MODY can result from mutations in any one of the six different genes, one of which encodes the glycolytic enzyme Glucokinase, associated with MO-DY2 and the other five encode transcription factors HNF4-alpha associated with MODY 1, HNF1-alpha associated with MODY 3, IPF with MODY 4, HNF1-Beta with MODY 5 and NeuroD1 with MO-DY6. (scirp.org)
Our study is focused on HNF1-alpha related to MODY 3, which is the most common one. (scirp.org)
Conclusions: Since maximum number of variations exists in exon 5 of the said gene, hence one can initially go for exon5 followed by other exons, while screening for pathogenic MODY 3 mutations in the responsible gene by PCR-SSCP method. (scirp.org)
1998).Linkage and molecular scaning analysis of MODY 3/hepatocyte nuclear factor 1-alpha gene in typical familial type 2 diabetes: Evidence for novel mutation in exon 8 and 10. (scirp.org)
MODY mutations have been found in many different ethnic groups, with glucokinase and HNF-1 alpha being the commonest types by far. (reliancebigpictures.com)
these people are said to have MODY X, and work is continuing to find the gene disorders responsible (3, 4). (reliancebigpictures.com)
Neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) account for a major proportion of monogenic diabetes, while syndromic diabetes constitutes a smaller proportion [ 3 , 4 ]. (pfmjournal.org)
Hepatic3
Biallelic mutation in the TCF-1 gene encoding the HNF-1alpha transcription factor causes this type of hepatic adenoma. (klarity.health)
The genetic mutations in hepatic adenoma are seen in inflammatory hepatic adenoma, HNF-1alpha inactivated mutations and beta-catenin activation. (klarity.health)
Thyroid-stimulating hormone regulates hepatic bile acid homeostasis via SREBP-2/HNF-4alpha/CYP7A1 axis[J]. J Hepatol, 2015, 62(5):1171-1179. (magtechjournal.com)
Mutations3
HNF1A mutations can cause maturity onset diabetes of the young type 3, one of the forms of "monogenic diabetes", as well as hepatocellular adenoma. (wikipedia.org)
For example, patients with maturity onset diabetes of the young owing to mutations in HNF1A (which accounts for ~3% of all diabetes mellitus cases diagnosed under the age of 30 years) are extremely sensitive to sulfonylurea treatment and can successfully transition off insulin treatment. (wikipedia.org)
HNF-1alpha inactivated mutations are the second most common subtype that constitutes 35-40% of liver adenomas. (klarity.health)
Adenomas1
Moreover, significantly lower levels of HNF-1α in pancreatic tumors and hepatocellular adenomas than in normal adjacent tissues was observed, suggesting that HNF-1α might play a possible tumor suppressor role. (wikipedia.org)
Gene9
The participation of HNF-1α in glucose metabolism and diabetes has been reported, including the involvement in GLUT1 and GLUT2 transporter expression in pancreatic β-cells and angiotensin-converting enzyme 2 gene expression in pancreatic islets. (wikipedia.org)
Result: It was observed that maximum number of variations exist in exon 5 of HNF1-alpha gene which may be referred to as "Mutational Hotspot" in our Eastern Indian population. (scirp.org)
Specific Aim 2 addresses the role of HNF-4 in mediating tissue-specific hypoxia induction of the Epo gene. (grantome.com)
As a complement to these studies of Epo gene transcription, we will, in Specific Aim 3, investigate in depth whether Epo expression is also regulated at the level of mRNA stability. (grantome.com)
The 3' untranslated region of Epo mRNA will be investigated by transfection experiments employing a marked Epo gene, along with gel shift experiments and cell free RNA stability assays. (grantome.com)
The presence of GTI, II and III are both sufficient and necessary to confer pancreatic-specific expression to a reporter gene in vitro or in vivo, using a transgenic mice approach (3,51). (justia.com)
The human GR protein is produced from 9 exons of the GR gene and is composed of 3 major subdomains, each of which has specific structural and functional properties. (brainimmune.com)
Thus, organisms cannot survive in the absence of glucocorticoid action, as observed in the mouse model in which the glucocorticoid receptor (GR) gene is genetically deleted [3]. (brainimmune.com)
HNF11
Objective: To investigate the mutation pattern in the different transcription factor genes with special reference to HNF1-alpha which are highly penetrant with 63% mutation carriers manifesting clinical diabetes by the age of 25 years. (scirp.org)
Subunit1
The activation of HIF-1 by hypoxia depends upon the selective protection of its alpha subunit from ubiquitin- dependent proteolysis. (grantome.com)
Regulates1
In addition, HNF-1α regulates the expression of acute phase proteins, such as fibrinogen, c-reactive protein, and interleukin 1 receptor, which are involved with inflammation. (wikipedia.org)
Bile acid1
HNF-1α is also involved in various metabolic pathways of other organs, such as being a transcriptional regulator of bile acid transporters in the intestine and kidneys. (wikipedia.org)
Glucokinase1
These genes are for the body's glucose sensor (glucokinase), and five transcription factors that control the way insulin is produced from the beta cells of the pancreas (HNF-1 alpha, HNF-1 beta, HNF-4alpha, IPF-1, and NEURO-D1). (reliancebigpictures.com)
Protein3
HNF-1 protein is present in ovarian clear-cell carcinoma. (wikipedia.org)
Polyclonal antibody raised in rabbit against CEBP Alpha (CCAAT/enhancer binding protein (C/EBP), alpha), using a KLH-conjugated synthetic peptide. (diagenode.com)
This article reviews the anti-inflammatory relative and anti-infectious effects of Evodia rutaecarpa and its major bioactive components and the involvement of the nitric oxide synthases, cyclooxygenase, NADPH oxidase, nuclear factor kappa B, hypoxia-inducible factor 1 alpha, reactive oxygen species, prostaglandins, tumor necrosis factor, LIGHT, amyloid protein and orexigenic neuropeptides. (biomedcentral.com)
Enhancer2
Several strategies will be used to ascertain the proteins that interact with HNF-4 on the Epo enhancer. (grantome.com)
This rat insulin promoter element 3 (RIPE3) is an important enhancer sequence sufficient to confer .beta. (justia.com)
This pharmacogenetic effect is consistent with models of HNF-1α deficiency, and the genetic basis of hyperglycemia may have implications for patient management. (wikipedia.org)
Proteins1
HNF-1α could promote the transcription of several proteins involved in the management of type II diabetes including dipeptidyl peptidase-IV (DPP-IV/CD26). (wikipedia.org)
Nuclear1
HNF-4 is an orphan nuclear receptor which is constitutively expressed in kidney and liver, and cooperates with HIF-1 to give maximal hypoxic induction. (grantome.com)
Tumor1
Progress in understanding epithelial carcinogenesis has been hindered in the past by a lack of models that faithfully recapitulate the 3-dimensional architecture of tumor-stroma co-evolution. (stanford.edu)
Maturity Onset Diabetes1
Patients with maturity-onset diabetes type 3 ( MODY3 ) and patients with adenomatosis have an increased risk of having HNF-1alpha-inactivated HCA. (klarity.health)
Insulin2
Diagnostic criteria include plasma glucose levels less than 3 mmol/L with detectable serum insulin and C-peptide, low serum ketone bodies, and low serum fatty acids. (medscape.com)
The beta cells produce insulin, alpha cells produce glucagon, delta cells produce somatostatin and the PP cells produce pancreatic polypeptide. (nurseinfo.in)
Patients1
thus, we should have expected fewer severe and severe and critical COVID-19 among pregnant wom- critical COVID-19 patients in periods 2 and 3, but we en and all women of reproductive age hospitalized observed the opposite. (cdc.gov)
Liver2
HNF-1alpha is involved in proliferation and liver development. (klarity.health)
Bile acids in drug induced liver injury:key players and surrogate markers[J]. Clin Res Hepatol Gastroenterol, 2016, 40(3):257-266. (magtechjournal.com)
Lower1
is set, then it is assumed that $M$ is already in lower left pseudo HNF. (oscar-system.org)
Biological1
In general, these epigenetic modifications work together and generate a code that ultimately determines the biological outcome [ 3 , 4 ]. (aging-us.com)
Response1
Circulating pro-MSP is proteolytically cleaved in response to tissue injury to yield biologically active disulfide linked heterodimers consisting of a 45 - 62 kDa alpha and a 25-35 kDa beta chain (4, 5). (bio-techne.com)
Human4
Description: A polyclonal antibody for detection of HNF-4Alpha Acetyl Lys106) from Human, Mouse, Rat. (cotinis.com)
The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from part region of human HNF-4? (cotinis.com)
The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the human HNF-3? (cotinis.com)
DONG Z, EKINS S, POLLI J E. Structure-activity relationship for FDA approved drugs as inhibitors of the human sodium taurocholate cotransporting polypeptide (NTCP)[J]. Mol Pharm, 2013, 10(3):1008-1019. (magtechjournal.com)
Region1
Important cis-regulatory sequences were identified within this promoter region including a functionally responsive PDX-1 element, a cyclic AMP responsive element, and three cis elements termed GTI, GTII and GTIII (3,36,53). (justia.com)
Delta3
1 ). A recent study warned about the possibility of cal COVID-19 among the 3 periods, we calculated more severe coronavirus disease (COVID-19) among the ratio of women of reproductive age (defined as pregnant persons infected with severe acute respira- 15-42 years) hospitalized with COVID-19 during tory syndrome coronavirus 2 (SARS-CoV-2) Delta the same period. (cdc.gov)
In France, the Delta variant became the 15, 2021, a total of 77 women of reproductive age predominant circulating SARS-CoV-2 variant in late were hospitalized for COVID-19 in our facility, in- June 2021 ( 3 ). (cdc.gov)
COVID-19 treatment progressive- gen support (1 Alpha variant, 4 Delta variant cases). (cdc.gov)
Responsible1
Meanwhile, the dimerization domain is responsible for the homo- and heterodimerization of HNF-1α. (wikipedia.org)
Variants1
We assessed COVID-19 disease severity against circulating severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants during 3 periods of interest based on predominance of circulating variants. (cdc.gov)
Activation1
Apart from endothelium dependence, alpha 1-adrenoceptor blockade, K + channel activation and Ca 2+ channel blockade were also involved in the vasorelaxant effect of DeHE [ 7 ]. (biomedcentral.com)
Critical1
The transition period (3 weeks before and after parturition) is a critical stage of life for dairy cows because of excessive adipose tissue lipolysis that develops with reduced feed intake and an increased energy requirement to support lactation [ 1 ]. (biomedcentral.com)