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A case report of CAT gene and HNF1β gene variations in a patient with early-onset diabetes

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Published/Copyright: April 6, 2022
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Open Life Sciences
From the journal Open Life Sciences Volume 17 Issue 1

Abstract

Complex forms of diabetes are the ultimate common pathway involving multiple genetic variations and multiple environmental factors. Type 2 diabetes (T2DM) is classified as complex diabetes. Varying degrees of insulin deficiency and tissue insulin resistance are two key links to T2DM. The islet β cell dysfunction plays a crucial role in the pathogenesis of T2DM. The decompensation of the islet β cell to insulin resistance is a common mechanism leading to the pathogenesis of T2DM. Available data show that genetic factors mainly affect cell function. At present, a number of susceptibility genes related to T2DM have been reported at home and abroad. In this study, the diabetes-related genes in the case of early-onset diabetes with a significant family history were examined, and our results showed the presence of the intron mutations of catalase (CAT) gene and hepatocyte nuclear factor 1β (HNF1β) gene. The patient enrolled in this study was observed and analyzed, thus, increasing further understanding of the genes associated with diabetes and exploring the pathogenesis of diabetes from the molecular level. This is significant for guiding the prevention, treatment, and prognosis evaluation of diabetes.

Keywords: diabetes; genetic mutations; catalase; hepatocyte nuclear factor; prognosis

1 Introduction

Diabetes mellitus has become a major disease, impacting greatly on the lives and health of patients. Moreover, diabetes is a common chronic disease in older patients. Worldwide, 425 million adults have diabetes, with the highest prevalence of diabetes among those aged 65–79 years [1]. Diabetes involves multiple genetic variants and environmental factors. These pathways involve insufficient insulin secretion or insulin resistance through pancreatic β-cell tissue. Type 2 diabetes (T2DM) is a complex form of diabetes and is reported to be related to some susceptible genes.

2 Case presentation

2.1 Introduction and medical history

The patient was a 28-year-old woman, an only child, delivered normally and spontaneously, and her parents’ marriage was nonconsanguineous. She was born with a weight of 3.5 kg, developed obesity in early childhood, and had normal intelligence. At the age of 18 years, the patient was admitted to a local hospital for “cellulitis of the right lower limb,” during which hyperglycemia was detected. Her fasting blood glucose was 10.5 mmol/L at the time, and she was diagnosed with “T2DM.” There was no diabetic ketoacidosis at the time of the diagnosis. All the antibodies of glutamic acid decarboxylase antibody (GADA), Islet cell antibody (ICA), and insulin autoantibody (IAA) were negative. In the early stage of the disease, she was treated with oral hypoglycemic drugs such as metformin and gliclazide irregularly, without strict lifestyle intervention, and her blood glucose control was poor, up to 32.9 mmol/L. At the age of 24 years, the patient repeatedly suffered from “diabetic ketoacidosis” and “diabetic ketosis” and began insulin treatment. The patient’s daily dose of insulin ranged from 40 to 50 units, and her blood glucose control was not ideal (16.0–20.0 mmol/L). Then, the patient developed peripheral neuropathy symptoms such as cooling, numbness, and needle-pricking pain. Meanwhile, clinical urine protein (5.0 g/24 h) was found in the patient at the age of 25 years. At this time, she was also diagnosed with diabetic kidney disease and dyslipidemia. One year later, there was a rise in her serum creatinine (108 µmol/L) and hypoalbuminemia with no evidence of autoimmune nephropathy or glomerulonephritis and normal levels of anti-nuclear antibody, anti-neutrophellol cytoplasmic antibody, Complement 3, Complement 4, rheumatoid factor, uric acid, C-reactive protein, and serum immunoglobulin. One year later, the patient had edema on both lower limbs and hypertension and began to take antihypertensive drugs (nifedipine controlled-release tablets, 30 mg oral qd).

  1. Informed consent: Informed consent has been obtained from all individuals included in this study.

  2. Ethical approval: The research related to human use has been complied with all the relevant national regulations, institutional policies, and in accordance with the tenets of the Helsinki Declaration, and has been approved by the authors’ institutional review board or equivalent committee.

2.2 Family history

Her grandfather, father, mother, and aunt had diabetes (Figure 1). Her father was diagnosed with diabetes in his 40s and died of lung cancer. Her mother was diagnosed with diabetes in her 30s–40s and died of renal failure. Her aunt, father, and mother were all obese. In the early years of the disease, their clinical manifestations were not prominent, and they were treated with oral hypoglycemic drugs. However, their management of diabetes was lax, which may have contributed to the early onset of complications. Except for the deceased grandfather, whose medical history could not be traced, all were diagnosed with T2DM in the local hospital. Unfortunately, however, examination and test data for their diagnosis are not available.

Figure 1 Genetic pedigree of the proband.
Figure 1

Genetic pedigree of the proband.

2.3 Physical examination

The patient had a clear mind, normal intelligence, normal development, a height of 161 cm, a bodyweight of 85 kg, a body mass index of 32.79 kg/m2, uniformity of obesity, mild facial edema, no obvious positive signs in cardio, pulmonary, or abdominal examinations, symmetrical moderate edema in both lower limbs, and symmetrical pulsation of the dorsal artery in the feet.

2.4 Laboratory examination

The patient’s biochemical indicators were tested, and an insulin and C-peptide release test was performed to evaluate the level of C-peptide secretion. Multiple laboratory findings were abnormal. The patient’s fasting blood glucose was 11.7 mmol/L (normal reference values 3.9–6.0 mmol/L), glycosylated hemoglobin was 9.1% (4.0–6.0%), creatinine was 307 µmol/L (44–97 µmol/L), glomerular filtration rate was 22.67 mL/min (80–120 mL/min), serum cystatin C was 3.0 mg/L (0.5–1.1 mg/L), hemoglobin was 111 g/L (120–150 g/L), albumin was 22.2 g/L (35–55 g/L), triglyceride was 4.47 mmol/L (0.23–1.69 mmol/L), total cholesterol was 6.83 mmol/L (2.86–5.98 mmol/L), low-density lipoprotein cholesterol was 4.04 mmol/L (0.90–3.10 mmol/L), urine ketone body was positive, and 24 h urine protein was 10.37 g/24 h (<0.15 g/24 h). GADA, ICA, and IAA were all negative. The patient’s insulin and C-peptide release test showed that there was a certain level of C-peptide secretion, but the peak disappeared, indicating that the function of the islet β cell was relatively damaged (Table 1).

Table 1

The level of blood glucose, insulin and C-P (steamed bread meal test)

Fasting 1 h 2 h
Blood glucose (mmol/L) 11.7 20.3 17.6
Insulin (uIU/mL) 10.10 (0.86–11.03) 46.63 (10.54–61.03) 40.22 (1.02–41.05)
C-peptide (ng/mL) 2.58 (0.52–4.38) 2.97 (3.58–13.27) 3.01 (1.20–11.36)

2.5 Imaging examination

Ultrasound: Fatty liver, no abnormality was found in either of the patient’s kidneys, her heart size was normal, her diastolic function decreased, and atherosclerosis was found in both lower extremities. Examination of the ocular fundus: diabetic retinopathy was found in both of the patient’s eyes (stage 3). The patient objected to renal biopsy, so the renal pathological results could not be obtained, and diabetic nephropathy could not be diagnosed definitely.

2.6 Diagnosis

1. Diabetes (T2DM, more likely); 1.1 Diabetic ketoses, 1.2 Diabetic peripheral neuropathy, 1.3 Diabetic kidney disease (stage V), and 1.4 Diabetic retinopathy (stage 3). 2. Hypertension level II (very high risk); 3. Dyslipidemia; 4. Hypoproteinemia.

2.7 Genetic detection methods

DNA was extracted from the patient’s peripheral blood by using the column method. Through sequencing technology, direct sequencing was performed on a variety of gene exon coding regions, which were compared with reference sequences to find possible gene mutations. The bioinformatics analysis method used included the analysis of missense mutations: PolyPhen2 (polymorphism type); sorting intolerant from tolerant, likelihood ratio test, mutation taster, mutation assessor, functional analysis through hidden Markov models; genomic evolutionary rate profiling; Phylop; and SiPhy and the analysis of splicing changes: NetGene2 Server, AUGUSTUS.

2.8 Genetic detection results

The detection results of the genes: a G to A substitution at the fifth position of intron 4 (a splicing mutation) was found in the catalase (CAT) gene, and a G to A substitution at the third position of intron 5 (a splicing mutation) was found in the HNF1β gene (Table 2 and Figures 2 and 3).

Table 2

The results of gene detection

Gene Chromosomal location Transcription Position cDNA level Protein level Variation
CAT 11p13 NM_001752.3 Intron4 c.480 + 5G > A p. Heterozygosis Suspicious of pathogenic
HNF1B 17q12 NM_000458.3 Intron5 c.1206 + 3G > A p. Heterozygosis Meaning is unknown
Figure 2 The results of gene detection (CAT).
Figure 2

The results of gene detection (CAT).

Figure 3 The results of gene detection (HNF-1β).
Figure 3

The results of gene detection (HNF-1β).

3 Discussion

3.1 The CAT gene and diabetes

CAT is one of the key enzymes in the biological antioxidation defense enzyme system. It can promote the decomposition of H2O2 into molecular oxygen and water and remove H2O2 from the body to protect the cells from the toxicity of H2O2. In addition to its recognized oxidant action, CAT can be used as a physiological signal transduction molecule [1]. CAT is expected to modulate the H2O2-dependent signal transduction pathway by affecting the cell level of hydrogen peroxide. To a certain extent, CAT content in tissues or plasma can reflect the state of oxidative stress and the antioxidant capacity of the organ. A growing number of studies have confirmed the correlation between oxidative stress and insulin resistance in obesity and T2DM [2,3,4,5,6]. Excessive free radical production or inadequate free radical scavenging for any reason can lead to the rise of free radicals, which, in turn, can lead to lipid peroxidation stress injury that is associated with the pathophysiological process of diabetes. Cellular antioxidant activity, including CAT, may be key to this process [7]. So far, there have been many studies on the correlation between single nucleotide polymorphisms (SNP) in the CAT gene and diseases, suggesting that genetic variations in CAT and its promoters are risk factors for a variety of cardiometabolic diseases [8], such as diabetes, hypertension, dyslipidemia, and arterial aging [9,10,11,12]. Decreased mRNA and protein expression of CAT may enhance reactive oxygen species-induced cell damage through the accumulation of H2O2 [13,14]. Several studies showed that the activity of CAT in patients with diabetes decreased significantly compared with healthy people and led to microvascular complications (e.g., diabetic retinopathy) in patients with diabetes [15,16,17,18,19].

In the present case, the CAT gene variations of the proband were splicing mutation. According to the preliminary analysis of cell function research and bioinformatics software, the mutation significantly affects mRNA splicing and is expected to cause changes in the splicing site, resulting in the disorder of the encoded protein and loss of its normal function. ESP6500siv2_ALL and 1000-thousand genome (1000g2015aug_ALL) database are not included, while the dbSNP147 database is included (rs761650208). In 1990, Wen et al. [20] detected the same mutation in a Japanese-type acatalasemia, and the same splicing site mutation was found in the genomic DNA of another individual from an unrelated family. The mutation was believed to be the most likely cause of Japanese-type acatalasemia. Acatalasemia is a rare genetic deficiency in humans that involves severe reductions in catalase activity and is usually an autosomal recessive inheritance. Acatalasemia in humans is considered an asymptomatic disease [21], and catalase-deficient mice are described as being phenotypically normal [22]. Nevertheless, more recent epidemiological studies show that human subjects with acatalasemia have an increased risk of developing numerous pathologies, including altered lipid and carbohydrate metabolism and T2DM [23,24,25].

Heit et al. [26] reported the CAT-knockout mice showed increased fasting insulin levels, abnormal glucose tolerance, and more enlarged islets of Langerhans. It was predicted that CAT deficiency would adversely affect lipid trafficking and glucose homeostasis by promoting the accumulation of hydrogen peroxide and thereby eliciting oxidant damage or amplified signal transduction pathways [26]. These results provide evidence for the CAT gene being involved in insulin resistance and the development of a pre-diabetic state.

The patient in this study and her parents were obese, and she suffered from peripheral neuropathy, retinopathy, renal injury, and hypertension. Her mother had early-onset diabetes complicated with severe renal injury and eventually died of renal failure. So, it is speculated that in addition to the impact of long-term hyperglycemia, increased oxidative stress and insulin resistance related to genetic variation might be an enabling factor in the development of diabetes and its complications. Altogether, we consider this variation as a suspicious pathogenic variation. Unfortunately, because the patient’s parents had died, it was not possible to test their genes.

3.2 The HNF1β gene and diabetes

HNF1β is a member of the transcription factor superfamily containing homologous domains, which plays an important role in tissue-specific regulation of gene expression in the liver, pancreas, kidney, intestines, reproductive tract, and other organs, and also participates in the embryonic development of these organs. Heterozygous mutations of the HNF1β gene can lead to abnormalities of these organs, manifesting as various renal and extrarenal phenotypes. Their clinical manifestations can be isolated or multisystem involvement, and the severity of clinical phenotypes varies greatly among affected patients in the same family [27,28,29].

It is also expressed in the pancreatic cells, and its main target genes are pyruvate kinase, glucose transporter glucose transport-2, and the insulin gene [30]. The HNF1β gene plays an important role in the primary pathophysiology of T2DM. It was involved in the loss of neurogenin-3 (Ngn3)-positive endocrine progenitor cells, pancreatic atrophy, and reduced insulin sensitivity to endogenous glucose production leading to the reduction of insulin secretion [31]. Previous studies have shown that HNF1β gene mutations may be involved in late-onset common T2DM in addition to maturity-onset diabetes in young patients 5 [32]. Some genome-wide association studies revealed that several tag SNPs in the HNF1β gene were associated with the susceptibility of T2DM and such associations were well replicated in many countries [33,34,35]. Rs4430796 (A > G) in intron 2 of HNF1β is the most frequent SNP in the Chinese population [36]. Huang et al. first reported that the rs11651052-A allele increased the risk of T2DM by 1.26-fold compared with the G allele. The study also provided evidence that age, gender, BMI, smoking, and drinking status have an interactive effect with these variants on T2DM susceptibility [37]. The research described HNF1β-related diabetes and associated phenotypes and assessed genotype/phenotype correlations at diagnosis and in the long term. The study showed that in a cohort of 201 adult patients with HNF1β defects, diabetes was present in 159 patients. At follow-up, 79% of patients were treated with insulin, 44% had chronic kidney disease stage 3–4 (CKD3–4), 21% had end-stage renal disease (ESRD), and 122 of 166 patients had renal cysts. By multivariate analysis, CKD3-4/ESRD at follow-up was associated with HNF1β mutation. Diabetes complications, cardiovascular risk factors, chronic CKD3-4, and ESRD are highly prevalent in patients with HNF1β syndrome [38]. Some researchers analyzed the genotype–phenotype correlations in 14 pediatric patients with HNF1β mutations. Genetic studies revealed that all patients had bilateral renal abnormalities, primarily multiple renal cysts. Twelve patients exhibited progressive renal functional deterioration, and diabetes developed in five patients (36%) [39].

The gene variation in the present case was splicing mutation, which is expected to cause changes in the splicing sites and result in the disorder of the encoded protein and loss of its normal function. However, no literature report was found on the HGMD database, and no data were included in ESP6500siv2_ALL, dbSNP147, and 1000g2015aug_ALL. The preliminary analysis by bioinformatics software showed that the variation did not affect mRNA splicing, but the predicted results were for reference only. Although this variation has not been reported in the literature, in view of the correlation between the HNF1β gene and diabetes and renal impairment, it cannot be ruled out that it may be an important factor in promoting early-onset diabetes and nephropathy. We examined the patient’s ultrasound but found no renal cysts. However, her kidney function is significantly impaired. In general, it is not clear that this variation is a pathogenic gene, and its clinical significance needs to be studied further. At diabetes diagnosis, the presence of morphological or functional kidney disease may help etiological diagnosis. Genotype/phenotype correlations may have implications for the care and prognosis of these patients.

4 Conclusion

At present, the incidence of diabetes is occurring at a younger age in patients, the proportion of early-onset diabetes is higher, the incidence of diabetic microvascular disease is higher, and familial aggregation is more common. Therefore, the detection and screening of diabetes-related genes in patients and relatives with a significant family history of diabetes and the exploration of the pathogenesis of diabetes from the molecular level have significance in guiding the prevention, treatment, and prognosis evaluation of such diseases. After genetic testing and comprehensive analysis were completed, we speculated that the CAT gene variation was likely to be a pathogenic gene and the significance of the HNF1β gene variation was debatable. From the perspective of mechanism and relevant evidence, the HNF1β gene variation is highly likely to be associated with the occurrence and development of T2DM and promote renal failure. This needs to be demonstrated by more studies in the future.

These authors contributed equally to this study.

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Acknowledgements

We would like to acknowledge the hard and dedicated work of all the staff that implemented the intervention and evaluation components of the study.

  1. Funding information: Authors state no funding involved.

  2. Author contributions: T.C. was involved in drafting the manuscript and revising it critically for important intellectual content; H.B.J. participated in supervision and data interpretation; P.F.L. made substantial contributions to conception and design of the work; Y.J.M. and F.X.Z. made substantial contributions to the acquisition, analysis, and interpretation of data for the work. All authors read and approved the final manuscript.

  3. Conflict of interest: Authors state no conflict of interest.

  4. Data availability statement: The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Received: 2021-04-26
Revised: 2021-11-16
Accepted: 2022-01-03
Published Online: 2022-04-06

© 2022 Tao Cui et al., published by De Gruyter

This work is licensed under the Creative Commons Attribution 4.0 International License.

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  22. Bmi-1 directly upregulates glucose transporter 1 in human gastric adenocarcinoma
  23. Lacunar infarction aggravates the cognitive deficit in the elderly with white matter lesion
  24. Hydroxysafflor yellow A improved retinopathy via Nrf2/HO-1 pathway in rats
  25. Comparison of axon extension: PTFE versus PLA formed by a 3D printer
  26. Elevated IL-35 level and iTr35 subset increase the bacterial burden and lung lesions in Mycobacterium tuberculosis-infected mice
  27. A case report of CAT gene and HNF1β gene variations in a patient with early-onset diabetes
  28. Study on the mechanism of inhibiting patulin production by fengycin
  29. SOX4 promotes high-glucose-induced inflammation and angiogenesis of retinal endothelial cells by activating NF-κB signaling pathway
  30. Relationship between blood clots and COVID-19 vaccines: A literature review
  31. Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype
  32. Bioinformatics network analyses of growth differentiation factor 11
  33. NR4A1 inhibits the epithelial–mesenchymal transition of hepatic stellate cells: Involvement of TGF-β–Smad2/3/4–ZEB signaling
  34. Expression of Zeb1 in the differentiation of mouse embryonic stem cell
  35. Study on the genetic damage caused by cadmium sulfide quantum dots in human lymphocytes
  36. Association between single-nucleotide polymorphisms of NKX2.5 and congenital heart disease in Chinese population: A meta-analysis
  37. Assessment of the anesthetic effect of modified pentothal sodium solution on Sprague-Dawley rats
  38. Genetic susceptibility to high myopia in Han Chinese population
  39. Potential biomarkers and molecular mechanisms in preeclampsia progression
  40. Silencing circular RNA-friend leukemia virus integration 1 restrained malignancy of CC cells and oxaliplatin resistance by disturbing dyskeratosis congenita 1
  41. Endostar plus pembrolizumab combined with a platinum-based dual chemotherapy regime for advanced pulmonary large-cell neuroendocrine carcinoma as a first-line treatment: A case report
  42. The significance of PAK4 in signaling and clinicopathology: A review
  43. Sorafenib inhibits ovarian cancer cell proliferation and mobility and induces radiosensitivity by targeting the tumor cell epithelial–mesenchymal transition
  44. Characterization of rabbit polyclonal antibody against camel recombinant nanobodies
  45. Active legumain promotes invasion and migration of neuroblastoma by regulating epithelial-mesenchymal transition
  46. Effect of cell receptors in the pathogenesis of osteoarthritis: Current insights
  47. MT-12 inhibits the proliferation of bladder cells in vitro and in vivo by enhancing autophagy through mitochondrial dysfunction
  48. Study of hsa_circRNA_000121 and hsa_circRNA_004183 in papillary thyroid microcarcinoma
  49. BuyangHuanwu Decoction attenuates cerebral vasospasm caused by subarachnoid hemorrhage in rats via PI3K/AKT/eNOS axis
  50. Effects of the interaction of Notch and TLR4 pathways on inflammation and heart function in septic heart
  51. Monosodium iodoacetate-induced subchondral bone microstructure and inflammatory changes in an animal model of osteoarthritis
  52. A rare presentation of type II Abernethy malformation and nephrotic syndrome: Case report and review
  53. Rapid death due to pulmonary epithelioid haemangioendothelioma in several weeks: A case report
  54. Hepatoprotective role of peroxisome proliferator-activated receptor-α in non-cancerous hepatic tissues following transcatheter arterial embolization
  55. Correlation between peripheral blood lymphocyte subpopulations and primary systemic lupus erythematosus
  56. A novel SLC8A1-ALK fusion in lung adenocarcinoma confers sensitivity to alectinib: A case report
  57. β-Hydroxybutyrate upregulates FGF21 expression through inhibition of histone deacetylases in hepatocytes
  58. Identification of metabolic genes for the prediction of prognosis and tumor microenvironment infiltration in early-stage non-small cell lung cancer
  59. BTBD10 inhibits glioma tumorigenesis by downregulating cyclin D1 and p-Akt
  60. Mucormycosis co-infection in COVID-19 patients: An update
  61. Metagenomic next-generation sequencing in diagnosing Pneumocystis jirovecii pneumonia: A case report
  62. Long non-coding RNA HOXB-AS1 is a prognostic marker and promotes hepatocellular carcinoma cells’ proliferation and invasion
  63. Preparation and evaluation of LA-PEG-SPION, a targeted MRI contrast agent for liver cancer
  64. Proteomic analysis of the liver regulating lipid metabolism in Chaohu ducks using two-dimensional electrophoresis
  65. Nasopharyngeal tuberculosis: A case report
  66. Characterization and evaluation of anti-Salmonella enteritidis activity of indigenous probiotic lactobacilli in mice
  67. Aberrant pulmonary immune response of obese mice to periodontal infection
  68. Bacteriospermia – A formidable player in male subfertility
  69. In silico and in vivo analysis of TIPE1 expression in diffuse large B cell lymphoma
  70. Effects of KCa channels on biological behavior of trophoblasts
  71. Interleukin-17A influences the vulnerability rather than the size of established atherosclerotic plaques in apolipoprotein E-deficient mice
  72. Multiple organ failure and death caused by Staphylococcus aureus hip infection: A case report
  73. Prognostic signature related to the immune environment of oral squamous cell carcinoma
  74. Primary and metastatic squamous cell carcinoma of the thyroid gland: Two case reports
  75. Neuroprotective effects of crocin and crocin-loaded niosomes against the paraquat-induced oxidative brain damage in rats
  76. Role of MMP-2 and CD147 in kidney fibrosis
  77. Geometric basis of action potential of skeletal muscle cells and neurons
  78. Babesia microti-induced fulminant sepsis in an immunocompromised host: A case report and the case-specific literature review
  79. Role of cerebellar cortex in associative learning and memory in guinea pigs
  80. Application of metagenomic next-generation sequencing technique for diagnosing a specific case of necrotizing meningoencephalitis caused by human herpesvirus 2
  81. Case report: Quadruple primary malignant neoplasms including esophageal, ureteral, and lung in an elderly male
  82. Long non-coding RNA NEAT1 promotes angiogenesis in hepatoma carcinoma via the miR-125a-5p/VEGF pathway
  83. Osteogenic differentiation of periodontal membrane stem cells in inflammatory environments
  84. Knockdown of SHMT2 enhances the sensitivity of gastric cancer cells to radiotherapy through the Wnt/β-catenin pathway
  85. Continuous renal replacement therapy combined with double filtration plasmapheresis in the treatment of severe lupus complicated by serious bacterial infections in children: A case report
  86. Simultaneous triple primary malignancies, including bladder cancer, lymphoma, and lung cancer, in an elderly male: A case report
  87. Preclinical immunogenicity assessment of a cell-based inactivated whole-virion H5N1 influenza vaccine
  88. One case of iodine-125 therapy – A new minimally invasive treatment of intrahepatic cholangiocarcinoma
  89. S1P promotes corneal trigeminal neuron differentiation and corneal nerve repair via upregulating nerve growth factor expression in a mouse model
  90. Early cancer detection by a targeted methylation assay of circulating tumor DNA in plasma
  91. Calcifying nanoparticles initiate the calcification process of mesenchymal stem cells in vitro through the activation of the TGF-β1/Smad signaling pathway and promote the decay of echinococcosis
  92. Evaluation of prognostic markers in patients infected with SARS-CoV-2
  93. N6-Methyladenosine-related alternative splicing events play a role in bladder cancer
  94. Characterization of the structural, oxidative, and immunological features of testis tissue from Zucker diabetic fatty rats
  95. Effects of glucose and osmotic pressure on the proliferation and cell cycle of human chorionic trophoblast cells
  96. Investigation of genotype diversity of 7,804 norovirus sequences in humans and animals of China
  97. Characteristics and karyotype analysis of a patient with turner syndrome complicated with multiple-site tumors: A case report
  98. Aggravated renal fibrosis is positively associated with the activation of HMGB1-TLR2/4 signaling in STZ-induced diabetic mice
  99. Distribution characteristics of SARS-CoV-2 IgM/IgG in false-positive results detected by chemiluminescent immunoassay
  100. SRPX2 attenuated oxygen–glucose deprivation and reperfusion-induced injury in cardiomyocytes via alleviating endoplasmic reticulum stress-induced apoptosis through targeting PI3K/Akt/mTOR axis
  101. Aquaporin-8 overexpression is involved in vascular structure and function changes in placentas of gestational diabetes mellitus patients
  102. Relationship between CRP gene polymorphisms and ischemic stroke risk: A systematic review and meta-analysis
  103. Effects of growth hormone on lipid metabolism and sexual development in pubertal obese male rats
  104. Cloning and identification of the CTLA-4IgV gene and functional application of vaccine in Xinjiang sheep
  105. Antitumor activity of RUNX3: Upregulation of E-cadherin and downregulation of the epithelial–mesenchymal transition in clear-cell renal cell carcinoma
  106. PHF8 promotes osteogenic differentiation of BMSCs in old rat with osteoporosis by regulating Wnt/β-catenin pathway
  107. A review of the current state of the computer-aided diagnosis (CAD) systems for breast cancer diagnosis
  108. Bilateral dacryoadenitis in adult-onset Still’s disease: A case report
  109. A novel association between Bmi-1 protein expression and the SUVmax obtained by 18F-FDG PET/CT in patients with gastric adenocarcinoma
  110. The role of erythrocytes and erythroid progenitor cells in tumors
  111. Relationship between platelet activation markers and spontaneous abortion: A meta-analysis
  112. Abnormal methylation caused by folic acid deficiency in neural tube defects
  113. Silencing TLR4 using an ultrasound-targeted microbubble destruction-based shRNA system reduces ischemia-induced seizures in hyperglycemic rats
  114. Plant Sciences
  115. Seasonal succession of bacterial communities in cultured Caulerpa lentillifera detected by high-throughput sequencing
  116. Cloning and prokaryotic expression of WRKY48 from Caragana intermedia
  117. Novel Brassica hybrids with different resistance to Leptosphaeria maculans reveal unbalanced rDNA signal patterns
  118. Application of exogenous auxin and gibberellin regulates the bolting of lettuce (Lactuca sativa L.)
  119. Phytoremediation of pollutants from wastewater: A concise review
  120. Genome-wide identification and characterization of NBS-encoding genes in the sweet potato wild ancestor Ipomoea trifida (H.B.K.)
  121. Alleviative effects of magnetic Fe3O4 nanoparticles on the physiological toxicity of 3-nitrophenol to rice (Oryza sativa L.) seedlings
  122. Selection and functional identification of Dof genes expressed in response to nitrogen in Populus simonii × Populus nigra
  123. Study on pecan seed germination influenced by seed endocarp
  124. Identification of active compounds in Ophiopogonis Radix from different geographical origins by UPLC-Q/TOF-MS combined with GC-MS approaches
  125. The entire chloroplast genome sequence of Asparagus cochinchinensis and genetic comparison to Asparagus species
  126. Genome-wide identification of MAPK family genes and their response to abiotic stresses in tea plant (Camellia sinensis)
  127. Selection and validation of reference genes for RT-qPCR analysis of different organs at various development stages in Caragana intermedia
  128. Cloning and expression analysis of SERK1 gene in Diospyros lotus
  129. Integrated metabolomic and transcriptomic profiling revealed coping mechanisms of the edible and medicinal homologous plant Plantago asiatica L. cadmium resistance
  130. A missense variant in NCF1 is associated with susceptibility to unexplained recurrent spontaneous abortion
  131. Assessment of drought tolerance indices in faba bean genotypes under different irrigation regimes
  132. The entire chloroplast genome sequence of Asparagus setaceus (Kunth) Jessop: Genome structure, gene composition, and phylogenetic analysis in Asparagaceae
  133. Food Science
  134. Dietary food additive monosodium glutamate with or without high-lipid diet induces spleen anomaly: A mechanistic approach on rat model
  135. Binge eating disorder during COVID-19
  136. Potential of honey against the onset of autoimmune diabetes and its associated nephropathy, pancreatitis, and retinopathy in type 1 diabetic animal model
  137. FTO gene expression in diet-induced obesity is downregulated by Solanum fruit supplementation
  138. Physical activity enhances fecal lactobacilli in rats chronically drinking sweetened cola beverage
  139. Supercritical CO2 extraction, chemical composition, and antioxidant effects of Coreopsis tinctoria Nutt. oleoresin
  140. Functional constituents of plant-based foods boost immunity against acute and chronic disorders
  141. Effect of selenium and methods of protein extraction on the proteomic profile of Saccharomyces yeast
  142. Microbial diversity of milk ghee in southern Gansu and its effect on the formation of ghee flavor compounds
  143. Ecology and Environmental Sciences
  144. Effects of heavy metals on bacterial community surrounding Bijiashan mining area located in northwest China
  145. Microorganism community composition analysis coupling with 15N tracer experiments reveals the nitrification rate and N2O emissions in low pH soils in Southern China
  146. Genetic diversity and population structure of Cinnamomum balansae Lecomte inferred by microsatellites
  147. Preliminary screening of microplastic contamination in different marine fish species of Taif market, Saudi Arabia
  148. Plant volatile organic compounds attractive to Lygus pratensis
  149. Effects of organic materials on soil bacterial community structure in long-term continuous cropping of tomato in greenhouse
  150. Effects of soil treated fungicide fluopimomide on tomato (Solanum lycopersicum L.) disease control and plant growth
  151. Prevalence of Yersinia pestis among rodents captured in a semi-arid tropical ecosystem of south-western Zimbabwe
  152. Effects of irrigation and nitrogen fertilization on mitigating salt-induced Na+ toxicity and sustaining sea rice growth
  153. Bioengineering and Biotechnology
  154. Poly-l-lysine-caused cell adhesion induces pyroptosis in THP-1 monocytes
  155. Development of alkaline phosphatase-scFv and its use for one-step enzyme-linked immunosorbent assay for His-tagged protein detection
  156. Development and validation of a predictive model for immune-related genes in patients with tongue squamous cell carcinoma
  157. Agriculture
  158. Effects of chemical-based fertilizer replacement with biochar-based fertilizer on albic soil nutrient content and maize yield
  159. Genome-wide identification and expression analysis of CPP-like gene family in Triticum aestivum L. under different hormone and stress conditions
  160. Agronomic and economic performance of mung bean (Vigna radiata L.) varieties in response to rates of blended NPS fertilizer in Kindo Koysha district, Southern Ethiopia
  161. Influence of furrow irrigation regime on the yield and water consumption indicators of winter wheat based on a multi-level fuzzy comprehensive evaluation
  162. Discovery of exercise-related genes and pathway analysis based on comparative genomes of Mongolian originated Abaga and Wushen horse
  163. Lessons from integrated seasonal forecast-crop modelling in Africa: A systematic review
  164. Evolution trend of soil fertility in tobacco-planting area of Chenzhou, Hunan Province, China
  165. Animal Sciences
  166. Morphological and molecular characterization of Tatera indica Hardwicke 1807 (Rodentia: Muridae) from Pothwar, Pakistan
  167. Research on meat quality of Qianhua Mutton Merino sheep and Small-tail Han sheep
  168. SI: A Scientific Memoir
  169. Suggestions on leading an academic research laboratory group
  170. My scientific genealogy and the Toronto ACDC Laboratory, 1988–2022
  171. Erratum
  172. Erratum to “Changes of immune cells in patients with hepatocellular carcinoma treated by radiofrequency ablation and hepatectomy, a pilot study”
  173. Erratum to “A two-microRNA signature predicts the progression of male thyroid cancer”
  174. Retraction
  175. Retraction of “Lidocaine has antitumor effect on hepatocellular carcinoma via the circ_DYNC1H1/miR-520a-3p/USP14 axis”
https://doi.org/10.1515/biol-2022-0026
Keywords for this article
diabetes; genetic mutations; catalase; hepatocyte nuclear factor; prognosis
Creative Commons
BY 4.0

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  20. Nutrition intervention in the management of novel coronavirus pneumonia patients
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  22. Bmi-1 directly upregulates glucose transporter 1 in human gastric adenocarcinoma
  23. Lacunar infarction aggravates the cognitive deficit in the elderly with white matter lesion
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  26. Elevated IL-35 level and iTr35 subset increase the bacterial burden and lung lesions in Mycobacterium tuberculosis-infected mice
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  30. Relationship between blood clots and COVID-19 vaccines: A literature review
  31. Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype
  32. Bioinformatics network analyses of growth differentiation factor 11
  33. NR4A1 inhibits the epithelial–mesenchymal transition of hepatic stellate cells: Involvement of TGF-β–Smad2/3/4–ZEB signaling
  34. Expression of Zeb1 in the differentiation of mouse embryonic stem cell
  35. Study on the genetic damage caused by cadmium sulfide quantum dots in human lymphocytes
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  37. Assessment of the anesthetic effect of modified pentothal sodium solution on Sprague-Dawley rats
  38. Genetic susceptibility to high myopia in Han Chinese population
  39. Potential biomarkers and molecular mechanisms in preeclampsia progression
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  45. Active legumain promotes invasion and migration of neuroblastoma by regulating epithelial-mesenchymal transition
  46. Effect of cell receptors in the pathogenesis of osteoarthritis: Current insights
  47. MT-12 inhibits the proliferation of bladder cells in vitro and in vivo by enhancing autophagy through mitochondrial dysfunction
  48. Study of hsa_circRNA_000121 and hsa_circRNA_004183 in papillary thyroid microcarcinoma
  49. BuyangHuanwu Decoction attenuates cerebral vasospasm caused by subarachnoid hemorrhage in rats via PI3K/AKT/eNOS axis
  50. Effects of the interaction of Notch and TLR4 pathways on inflammation and heart function in septic heart
  51. Monosodium iodoacetate-induced subchondral bone microstructure and inflammatory changes in an animal model of osteoarthritis
  52. A rare presentation of type II Abernethy malformation and nephrotic syndrome: Case report and review
  53. Rapid death due to pulmonary epithelioid haemangioendothelioma in several weeks: A case report
  54. Hepatoprotective role of peroxisome proliferator-activated receptor-α in non-cancerous hepatic tissues following transcatheter arterial embolization
  55. Correlation between peripheral blood lymphocyte subpopulations and primary systemic lupus erythematosus
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  57. β-Hydroxybutyrate upregulates FGF21 expression through inhibition of histone deacetylases in hepatocytes
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  59. BTBD10 inhibits glioma tumorigenesis by downregulating cyclin D1 and p-Akt
  60. Mucormycosis co-infection in COVID-19 patients: An update
  61. Metagenomic next-generation sequencing in diagnosing Pneumocystis jirovecii pneumonia: A case report
  62. Long non-coding RNA HOXB-AS1 is a prognostic marker and promotes hepatocellular carcinoma cells’ proliferation and invasion
  63. Preparation and evaluation of LA-PEG-SPION, a targeted MRI contrast agent for liver cancer
  64. Proteomic analysis of the liver regulating lipid metabolism in Chaohu ducks using two-dimensional electrophoresis
  65. Nasopharyngeal tuberculosis: A case report
  66. Characterization and evaluation of anti-Salmonella enteritidis activity of indigenous probiotic lactobacilli in mice
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  68. Bacteriospermia – A formidable player in male subfertility
  69. In silico and in vivo analysis of TIPE1 expression in diffuse large B cell lymphoma
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  71. Interleukin-17A influences the vulnerability rather than the size of established atherosclerotic plaques in apolipoprotein E-deficient mice
  72. Multiple organ failure and death caused by Staphylococcus aureus hip infection: A case report
  73. Prognostic signature related to the immune environment of oral squamous cell carcinoma
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  75. Neuroprotective effects of crocin and crocin-loaded niosomes against the paraquat-induced oxidative brain damage in rats
  76. Role of MMP-2 and CD147 in kidney fibrosis
  77. Geometric basis of action potential of skeletal muscle cells and neurons
  78. Babesia microti-induced fulminant sepsis in an immunocompromised host: A case report and the case-specific literature review
  79. Role of cerebellar cortex in associative learning and memory in guinea pigs
  80. Application of metagenomic next-generation sequencing technique for diagnosing a specific case of necrotizing meningoencephalitis caused by human herpesvirus 2
  81. Case report: Quadruple primary malignant neoplasms including esophageal, ureteral, and lung in an elderly male
  82. Long non-coding RNA NEAT1 promotes angiogenesis in hepatoma carcinoma via the miR-125a-5p/VEGF pathway
  83. Osteogenic differentiation of periodontal membrane stem cells in inflammatory environments
  84. Knockdown of SHMT2 enhances the sensitivity of gastric cancer cells to radiotherapy through the Wnt/β-catenin pathway
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  86. Simultaneous triple primary malignancies, including bladder cancer, lymphoma, and lung cancer, in an elderly male: A case report
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  90. Early cancer detection by a targeted methylation assay of circulating tumor DNA in plasma
  91. Calcifying nanoparticles initiate the calcification process of mesenchymal stem cells in vitro through the activation of the TGF-β1/Smad signaling pathway and promote the decay of echinococcosis
  92. Evaluation of prognostic markers in patients infected with SARS-CoV-2
  93. N6-Methyladenosine-related alternative splicing events play a role in bladder cancer
  94. Characterization of the structural, oxidative, and immunological features of testis tissue from Zucker diabetic fatty rats
  95. Effects of glucose and osmotic pressure on the proliferation and cell cycle of human chorionic trophoblast cells
  96. Investigation of genotype diversity of 7,804 norovirus sequences in humans and animals of China
  97. Characteristics and karyotype analysis of a patient with turner syndrome complicated with multiple-site tumors: A case report
  98. Aggravated renal fibrosis is positively associated with the activation of HMGB1-TLR2/4 signaling in STZ-induced diabetic mice
  99. Distribution characteristics of SARS-CoV-2 IgM/IgG in false-positive results detected by chemiluminescent immunoassay
  100. SRPX2 attenuated oxygen–glucose deprivation and reperfusion-induced injury in cardiomyocytes via alleviating endoplasmic reticulum stress-induced apoptosis through targeting PI3K/Akt/mTOR axis
  101. Aquaporin-8 overexpression is involved in vascular structure and function changes in placentas of gestational diabetes mellitus patients
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  103. Effects of growth hormone on lipid metabolism and sexual development in pubertal obese male rats
  104. Cloning and identification of the CTLA-4IgV gene and functional application of vaccine in Xinjiang sheep
  105. Antitumor activity of RUNX3: Upregulation of E-cadherin and downregulation of the epithelial–mesenchymal transition in clear-cell renal cell carcinoma
  106. PHF8 promotes osteogenic differentiation of BMSCs in old rat with osteoporosis by regulating Wnt/β-catenin pathway
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  109. A novel association between Bmi-1 protein expression and the SUVmax obtained by 18F-FDG PET/CT in patients with gastric adenocarcinoma
  110. The role of erythrocytes and erythroid progenitor cells in tumors
  111. Relationship between platelet activation markers and spontaneous abortion: A meta-analysis
  112. Abnormal methylation caused by folic acid deficiency in neural tube defects
  113. Silencing TLR4 using an ultrasound-targeted microbubble destruction-based shRNA system reduces ischemia-induced seizures in hyperglycemic rats
  114. Plant Sciences
  115. Seasonal succession of bacterial communities in cultured Caulerpa lentillifera detected by high-throughput sequencing
  116. Cloning and prokaryotic expression of WRKY48 from Caragana intermedia
  117. Novel Brassica hybrids with different resistance to Leptosphaeria maculans reveal unbalanced rDNA signal patterns
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  119. Phytoremediation of pollutants from wastewater: A concise review
  120. Genome-wide identification and characterization of NBS-encoding genes in the sweet potato wild ancestor Ipomoea trifida (H.B.K.)
  121. Alleviative effects of magnetic Fe3O4 nanoparticles on the physiological toxicity of 3-nitrophenol to rice (Oryza sativa L.) seedlings
  122. Selection and functional identification of Dof genes expressed in response to nitrogen in Populus simonii × Populus nigra
  123. Study on pecan seed germination influenced by seed endocarp
  124. Identification of active compounds in Ophiopogonis Radix from different geographical origins by UPLC-Q/TOF-MS combined with GC-MS approaches
  125. The entire chloroplast genome sequence of Asparagus cochinchinensis and genetic comparison to Asparagus species
  126. Genome-wide identification of MAPK family genes and their response to abiotic stresses in tea plant (Camellia sinensis)
  127. Selection and validation of reference genes for RT-qPCR analysis of different organs at various development stages in Caragana intermedia
  128. Cloning and expression analysis of SERK1 gene in Diospyros lotus
  129. Integrated metabolomic and transcriptomic profiling revealed coping mechanisms of the edible and medicinal homologous plant Plantago asiatica L. cadmium resistance
  130. A missense variant in NCF1 is associated with susceptibility to unexplained recurrent spontaneous abortion
  131. Assessment of drought tolerance indices in faba bean genotypes under different irrigation regimes
  132. The entire chloroplast genome sequence of Asparagus setaceus (Kunth) Jessop: Genome structure, gene composition, and phylogenetic analysis in Asparagaceae
  133. Food Science
  134. Dietary food additive monosodium glutamate with or without high-lipid diet induces spleen anomaly: A mechanistic approach on rat model
  135. Binge eating disorder during COVID-19
  136. Potential of honey against the onset of autoimmune diabetes and its associated nephropathy, pancreatitis, and retinopathy in type 1 diabetic animal model
  137. FTO gene expression in diet-induced obesity is downregulated by Solanum fruit supplementation
  138. Physical activity enhances fecal lactobacilli in rats chronically drinking sweetened cola beverage
  139. Supercritical CO2 extraction, chemical composition, and antioxidant effects of Coreopsis tinctoria Nutt. oleoresin
  140. Functional constituents of plant-based foods boost immunity against acute and chronic disorders
  141. Effect of selenium and methods of protein extraction on the proteomic profile of Saccharomyces yeast
  142. Microbial diversity of milk ghee in southern Gansu and its effect on the formation of ghee flavor compounds
  143. Ecology and Environmental Sciences
  144. Effects of heavy metals on bacterial community surrounding Bijiashan mining area located in northwest China
  145. Microorganism community composition analysis coupling with 15N tracer experiments reveals the nitrification rate and N2O emissions in low pH soils in Southern China
  146. Genetic diversity and population structure of Cinnamomum balansae Lecomte inferred by microsatellites
  147. Preliminary screening of microplastic contamination in different marine fish species of Taif market, Saudi Arabia
  148. Plant volatile organic compounds attractive to Lygus pratensis
  149. Effects of organic materials on soil bacterial community structure in long-term continuous cropping of tomato in greenhouse
  150. Effects of soil treated fungicide fluopimomide on tomato (Solanum lycopersicum L.) disease control and plant growth
  151. Prevalence of Yersinia pestis among rodents captured in a semi-arid tropical ecosystem of south-western Zimbabwe
  152. Effects of irrigation and nitrogen fertilization on mitigating salt-induced Na+ toxicity and sustaining sea rice growth
  153. Bioengineering and Biotechnology
  154. Poly-l-lysine-caused cell adhesion induces pyroptosis in THP-1 monocytes
  155. Development of alkaline phosphatase-scFv and its use for one-step enzyme-linked immunosorbent assay for His-tagged protein detection
  156. Development and validation of a predictive model for immune-related genes in patients with tongue squamous cell carcinoma
  157. Agriculture
  158. Effects of chemical-based fertilizer replacement with biochar-based fertilizer on albic soil nutrient content and maize yield
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  160. Agronomic and economic performance of mung bean (Vigna radiata L.) varieties in response to rates of blended NPS fertilizer in Kindo Koysha district, Southern Ethiopia
  161. Influence of furrow irrigation regime on the yield and water consumption indicators of winter wheat based on a multi-level fuzzy comprehensive evaluation
  162. Discovery of exercise-related genes and pathway analysis based on comparative genomes of Mongolian originated Abaga and Wushen horse
  163. Lessons from integrated seasonal forecast-crop modelling in Africa: A systematic review
  164. Evolution trend of soil fertility in tobacco-planting area of Chenzhou, Hunan Province, China
  165. Animal Sciences
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  167. Research on meat quality of Qianhua Mutton Merino sheep and Small-tail Han sheep
  168. SI: A Scientific Memoir
  169. Suggestions on leading an academic research laboratory group
  170. My scientific genealogy and the Toronto ACDC Laboratory, 1988–2022
  171. Erratum
  172. Erratum to “Changes of immune cells in patients with hepatocellular carcinoma treated by radiofrequency ablation and hepatectomy, a pilot study”
  173. Erratum to “A two-microRNA signature predicts the progression of male thyroid cancer”
  174. Retraction
  175. Retraction of “Lidocaine has antitumor effect on hepatocellular carcinoma via the circ_DYNC1H1/miR-520a-3p/USP14 axis”
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