Pcbd1 (GFP-tagged) - Mouse pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 (Pcbd1),, 10 µg.
A family of transcription factors (hepatocyte nuclear factors) enriched in liver. HNF1 is predominantly expressed in liver and kidney and selectively interacts with the control regions of several liver-specific genes. Heterozygous mutations in hepatocyte nuclear factor (HNF)-1α and HNF-1β result in maturity-onset diabetes of the young. ...
One form of maturity-onset diabetes of the young, MODY3, is characterized by a severe insulin secretory defect, compared with MODY2, a glucokinase-deflcient diabetes. It has recently been shown that mutations of the gene encoding the transcription factor hepatocyte nuclear factor (HNF)-1α cause MODY3. Because of the rapid progress to overt diabetes and the high prevalence of required insulin treatment in patients with MODY3, we screened the HNF-1α gene for mutations in Japanese subjects with IDDM. Ten exons and flanking introns of the HNF-1α gene in these subjects were amplified by polymerase chain reaction and direct sequencing of the products. Mutations were identified in three (5.5%) of the 55 unrelated subjects with IDDM. A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA binding domain of HNF-1α was found in a subject who developed IDDM 1 year after diagnosis of NIDDM at 8 years of age. A frameshift mutation of P291fsinsC (insertion of a C in a polyC tract ...
The transcription factor hepatocyte nuclear factor 4-alpha (HNF4-alpha) plays a key role in colon cancer and colitis. HNF4-alpha comes in two major isoforms, P1 and P2, but how these are distributed in the gut is not understood. Now UC Riverside researchers have determined the distribution of the P1 and P2 isoforms in the colon. They report that maintaining a balance of P1 and P2 is crucial for reducing risk of contracting colon cancer and colitis.
J:62595 Jacquemin P, Durviaux SM, Jensen J, Godfraind C, Gradwohl G, Guillemot F, Madsen OD, Carmeliet P, Dewerchin M, Collen D, Rousseau GG, Lemaigre FP, Transcription factor hepatocyte nuclear factor 6 regulates pancreatic endocrine cell differentiation and controls expression of the proendocrine gene ngn3. Mol Cell Biol. 2000 Jun;20(12):4445-54 ...
There are no specific protocols for Recombinant Human HNF4 gamma protein (ab116986). Please download our general protocols booklet
The nhr-64 encodes a conserved nuclear receptor that is a member of the NR2 subfamily of nuclear receptors that contains Drosophila and human HNF4 (mutations in human HNF4A are associated with Type I MODY (maturity-onset diabetes of the young)). By homology, NHR-64 is predicted to function as a transcription factor that may activate or repress transcription in response to a hormonal signal. However, as loss of nhr-64 activity via RNAi does not result in any obvious abnormalities, the precise role of NHR-64 in C. elegans development and/or behavior is not yet known. The nhr-64 is broadly expressed and detected in anterior and posterior neurons, the ventral nerve cord, the pharynx, gut, and hypodermis. Go to the official parts registry page for this part ...
MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 10, also known as mody10, is related to maturity-onset diabetes of the young, and has symptoms including maturity-onset diabetes of the young An important gene associated with Maturity-Onset Diabetes of the Young, Type 10 is INS (Insulin). The drugs Moxonidine and Pitavastatin have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and breast ...
What is Maturity Onset Diabetes of the Young (MODY)? - Find more information and articles related to Maturity Onset Diabetes of the Young (MODY) at onlymyhealth.com
This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1 ...
Data from the Pharmacogenomics and Risk of Cardiovascular Disease (PARC) study and the Cardiovascular Health Study (CHS) provide independent and confirmatory evidence for association between common polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha and plasma C-reactive prote …
Rat hepatoma-human fibroblast hybrids of two independent lineages containing only 8-11 human chromosomes show pleiotropic extinction of thirteen out of fifteen hepatic functions examined. Reexpression of the entire group of functions most often occurs in a block, and except for one discordant subclone, correlates with loss of human chromosome 2. The extinguished cells and their reexpressing derivatives have been examined for the expression of seven liver-enriched transcription factors. C/EBP, LAP, DBP, HNF3, and vHNF1 expression are not systematically extinguished in parallel with the hepatic functions. However, HNF1 and HNF4 show a perfect correlation with phenotype: these factors are expressed only in the cells showing pleiotropic reexpression. Since recent evidence indicates that HNF4 controls HNF1 expression, it can be proposed that the HNF4 gene is the primary target of the pleiotropic extinguisher. ...
Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant form of diabetes typically occurring before age 25 and caused by a primary insulin secretion defect. MODY is not a single entity but represents nine classifications with genetic, metabolic, and clinical heterogeneity. MODY is estimated to affect approximately 1-2% of people with diabetes, although this may be an underestimate since the genetic etiology of this type of diabetes often goes undiagnosed ...
Deficiency of Capn4 gene inhibits nuclear factor-κB (NF-κB) protein signaling/inflammation and reduces remodeling after myocardial infarction.: Calpain has been
Plasmid HNF4A_P2-135 from Dr. Gerhart Ryffels lab contains the insert HNF4A P2 promoter and is published in Hum Mol Genet. 2001 Sep 15. 10(19):2089-97. This plasmid is available through Addgene.
برينستون ــ لم يكن لهذه المهمة أن تصبح سهلة أبدا: فرض خسائر تبلغ 5,8 مليار يورو (7,5 مليار دولار أميركي) على المقرضين للحكومة القبرصية والمودعين لدى البنوك في البلاد. والآن دفع هذا الجهد بأوروبا إلى أحدث مآزقها.. ففي مفاوضات ماراثونية، وافقت الحكومة القبرصية تحت إشراف الترويكا (المفوضية الأوروبية، والبنك المركزي الأوروبي، وصندوق النقد الدولي) على فرض ضريبة لمرة واحدة على الودائع المصرفية. ولكن على الرغم من التعديل الوارد لإعفاء الحسابات التي لا تحتوي على أكثر من عشرين ألف يورو، فإن البرلمان القبرصي رفض الخطة بأغلبية ساحقة، الأمر الذي أدى إلى انزلاق ...
Prune belly syndrome university of maryland medical center. Definition. Prune stomach syndrome is a collection of delivery defects that involve three main troubles negative development of the stomach muscles, causing the pores and skin of the. Prune stomach syndrome question. Definition. Prune stomach syndrome is a collection of delivery abnormalities marked by means of 3 foremost findings lack of improvement of abdominal muscular tissues, causing the skin of the. Prune stomach syndrome health records. Targeted records on prune belly syndrome, which includes reasons, signs, diagnosis, and remedy. Prune belly syndrome webmd. Additionally strive. look for prune belly syndrome. Look up results on ask. Prune belly syndrome / eagle barrett syndrome / triad. Treatment for prune stomach syndrome includes antibiotics to save you urinary tract infections and surgical correction anywhere necessary.. Prune belly syndrome university of maryland. Jul 22, 2007 prunebelly syndrome, also called eaglebarrett ...
Developmental and Growth Hormone Regulation of the Expression of Liver-Enriched Transcription Factors in the Bovine Liver Satyanarayana Eleswarapu ABSTRACT Liver gene expression changes during development and is affected by growth hormone (GH). These changes in gene expression may be due to the differential expression of the liver-enriched transcription factors (LETFs). To study the potential involvement of LETFs in the regulation of gene expression in the bovine liver, we cloned the cDNA fragments of nine bovine LETFs, including hepatocyte nuclear factor (HNF)-1Æ Ã , 1Æ Ã , 3Æ Ã , 3Æ Ã , 3Æ Ã , 6, albumin D-element binding protein (DBP), and CCAAT/enhancer-binding proteins (C/EBP) -Æ Ã and Æ Ã , and compared the expression levels of them between adult and fetal bovine liver and between GH-treated and untreated adult bovine liver. The mRNA abundance of the LETFs was determined by ribonuclease protection assay (RPA). The cloned bovine LETF cDNA sequences showed high degrees of ...
The following is the personal account of my friend* Kurt Walkers lifelong journey with Eagle-Barrett Syndrome (more commonly known as Prune Belly Syndrome, or PBS). Kurt is a Pastor, teacher and preacher at Faith United Church of Christ in Indianapolis...
Vidant Health - Prune belly syndrome is identified by abnormalities including weakness of abdominal muscles, undescended testes and expanded bladder.
It is important to identify patients with Maturity-onset diabetes of the young (MODY) as a molecular diagnosis determines both treatment and prognosis. Genetic testing is currently expensive and many patients are therefore not assessed and are misclassified as having either type 1 or type 2 diabetes. Biomarkers could facilitate the prioritisation of patients for genetic testing. We hypothesised that patients with different underlying genetic aetiologies for their diabetes could have distinct metabolic profiles which may uncover novel biomarkers. The aim of this study was to perform metabolic profiling in urine from patients with MODY due to mutations in the genes encoding glucokinase (GCK) or hepatocyte nuclear factor 1 alpha (HNF1A), type 2 diabetes (T2D) and normoglycaemic control subjects. Urinary metabolic profiling by Nuclear Magnetic Resonance (NMR) and ultra performance liquid chromatography hyphenated to Q-TOF mass spectrometry (UPLC-MS) was performed in a Discovery set of subjects with HNF1A
Hepatocyte nuclear factor 4alpha (HNF4alpha) is a regulator of hepatocyte and pancreatic transcription. Hnf4alpha deletion in the mouse is embryonically lethal with severe defects in visceral endoderm formation. It has been concluded in the past that the role of Hnf4alpha in the developing colon was …
Zhang, Z., Chu, M., Hu, J., Yi, W., Wang, B., & Ma, X. (2017). P1-Hepatocyte Nuclear Factor 4α Expression Significantly Correlates with the Severity of Chronic Gastritis. International Journal of Clinical and Experimental Pathology, 10 (6). http://dx.doi.org/no doi ...
If you are interested in sponsoring a child attend an upcoming convention. We offer 4 levels of sponsorship Bronze $50 "Register a child" Silver $100 "Sponsor childs event" Gold $250 "Half Scholarship" Platinum $500 "Full Scholarship" ...
I posed this on another board but thought maybe someone might have advice on here. So currently I am 24 weeks pregnant (Monday will be 25) and...
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J:120667 Bouzin C, Clotman F, Renauld JC, Lemaigre FP, Rousseau GG, The onecut transcription factor hepatocyte nuclear factor-6 controls B lymphopoiesis in fetal liver. J Immunol. 2003 Aug 1;171(3):1297-303 ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
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Recombinant protein of human hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 5, 20 ug available for purchase from OriGene - Your Gene Company.
Recombinant protein of human hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 3, 20 ug available for purchase from OriGene - Your Gene Company.
Cited for: VARIANTS MODY2 GLU-16; ASN-19; PRO-20; TRP-36; SER-43; SER-44; 61-TYR--GLN-465 DEL; SER-61; LYS-70; ARG-72; PRO-77; GLU-78; ASP-80; ILE-82; HIS-108; PRO-116; LEU-182; 186-ARG--GLN-465 DEL; TYR-187; TRP-191; LEU-200; THR-202; MET-206; MET-209; SER-223; ARG-224; SER-227; MET-228; ARG-233; 234-TYR--GLN-465 DEL; GLY-252; ALA-255; LYS-256; ARG-261; LYS-265; LYS-298; TRP-308; HIS-377; VAL-379; LEU-383; 399-GLU--GLN-465 DEL; PHE-411; PRO-416; GLU-420 AND TRP-441; Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients. ...
HNF4 gamma antibody (hepatocyte nuclear factor 4, gamma) for IHC-P. Anti-HNF4 gamma pAb (GTX70879) is tested in Human samples. 100% Ab-Assurance.
Hepatocyte nuclear factors (HNFs) are a group of phylogenetically unrelated transcription factors that regulate the transcription of a diverse group of genes into proteins. These proteins include blood clotting factors and in addition, enzymes and transporters involved with glucose, cholesterol, and fatty acid transport and metabolism. As the name suggests, hepatocyte nuclear factors are expressed predominately in the liver. However HNFs are also expressed and play important roles in a number of other tissues so that the name hepatocyte nuclear factor is somewhat misleading. Nevertheless, the liver is the only tissue in which a significant number of different HNFs are expressed at the same time. In addition, there are a number of genes which contain multiple promoter and enhancer regions each regulated by a different HNF. Furthermore, efficient expression of these genes require synergistic activation by multiple HNFs. Hence hepatocyte nuclear factors function to ensure liver specific expression ...
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes responsible for approximately 1-2% of all cases of diabetes. The disease is clinically defined by: 1) autosomal dominant inheritance (diabetes for at least two consecutive generations), 2) non-insulin dependent diabetes at onset (or measurable serum C-peptide three years after onset), and 3) diagnosis in a young age (at least one family member with onset before the age of 25 years). Clinically, MODY-patients resemble patients with type 2 diabetes (T2DM) more than patients with type 1 diabetes mellitus (T1DM). MODY is genetically heterogeneous, with known mutations in eight different genes and mutations in either of these genes leads to specific forms of MODY. Based on a national epidemiological survey, we know that in Denmark, approximately 50% of patients who are diagnosed with MODY have mutations in the hepatocyte nuclear factor (HNF) 4 alpha (HNF4A) (MODY1), glucokinase (GCK) (MODY2), or HNF1A (MODY3) genes.. MODY3 is ...
Prune belly syndrome, also known as Eagle-Barrett syndrome, is a genetic disorder where some or all of the abdominal muscles are missing or weakened and the urinary tract is not formed in the normal fashion.
Prune belly syndrome is characterized by poor development of the abdominal muscles, undescended testicles and an abnormal, expanded bladder.
Prune Belly Syndrome is a registered 501(c)(3) nonprofit organization. All donations are tax deductible in full or in part.. ...
Read "The prune belly syndrome: report of a rare case and review of literature, European Journal of Plastic Surgery" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
TY - JOUR. T1 - Retinoic acid mediates down-regulation of the α-fetoprotein gene through decreased expression of hepatocyte nuclear factors. AU - Magee, Thomas R.. AU - Cai, Yan. AU - El-Houseini, Motawa E.. AU - Locker, Joseph. AU - Wan, Yu-Jui Yvonne. PY - 1998/11/6. Y1 - 1998/11/6. N2 - α-Fetoprotein (AFP), a protein highly induced during fetal liver development, is down-regulated by retinoids in the human hepatoma cell line Hep3B, in contrast to up-regulation observed in other cell types. Previously, we have documented that such up-regulation involves direct effects through cis-retinoid X receptor-binding sites in the AFP enhancer. In this report, we show a distinctive effect of all-trans-retinoic acid (RA) in Hep3B cells. RA caused a marked decrease in AFP transcripts. Deletion analysis of the upstream regulatory region of the AFP gene revealed that cis-acting sites required for down-regulation resided near the promoter. Gel mobility shift assays for factors binding to key elements in the ...
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Maturity-onset diabetes of the young type 3 (MODY3) is a non-ketotic form of diabetes associated with poor insulin secretion. Over the past years, several studies have reported the association of missense mutations in the Hepatocyte Nuclear Factor 1 Alpha (HNF1A) with MODY3. Missense mutations in the POU homeodomain (POUH) of HNF1A hinder binding to the DNA, thereby leading to a dysfunctional protein. Missense mutations of the HNF1A were retrieved from public databases and subjected to a three-step computational mutational analysis to identify the underlying mechanism. First, the pathogenicity and stability of the mutations were analyzed to determine whether they alter protein structure and function. Second, the sequence conservation and DNA-binding sites of the mutant positions were assessed; as HNF1A protein is a transcription factor. Finally, the biochemical properties of the biological system were validated using molecular dynamic simulations in Gromacs 4.6.3 package. Two arginine residues ...
Hepatic nuclear factor 4α (HNF4A) is a nuclear transcription factor that regulates the expression of many genes involved in drug disposition. To identify additional molecular mechanisms that regulate HNF4A, we identified microRNAs (miRNAs) that target HNF4A expression. In silico analyses suggested that HNF4A is targeted by many miRNAs. We conducted in vitro studies to validate several of these predictions. With use of an HNF4A 3-untranslated region (UTR) luciferase reporter assay, five of six miRNAs tested significantly down-regulated (∼20-40%) the luciferase activity. In HepG2 cells, miR-34a and miR-449a also down-regulated the expression of both the HNF4A protein and an HNF4A target gene, PXR (∼30-40%). This regulation appeared without reduction in HNF4A mRNA expression, suggesting that they must be blocking HNF4A translation. Using additional bioinformatic algorithms, we identified polymorphisms that are predicted to alter the miRNA targeting of HNF4A. Luciferase assays indicated that miR-34a
Diabetes mellitus is a chronic disease characterized by high blood glucose levels that requires long-term medical attention both to limit the development of its devastating complications and to manage them when they do occur. The pancreatic Beta-cell and its secretory [...]
To analyze gene function in mammalian cells tetracycline inducible expression of a gene-of-interest at a specific genomic location (Flp-In T-REx™) is most attractive. However, leakiness of basal transgene expression and artificially high expression level upon tetracycline addition may be disadvantageous. To solve these problems, we developed two different approaches to improve our pancreatic β-cell line INS-1 Flp-In T-REx™ expressing the tissue restricted transcription factor HNF4α under control of tetracycline. On the one hand we replaced the strong full length CMV promoter (CMV-Wt) with a weaker 5-deleted CMV promoter fragment of 138 nucleotides in length (CMV-138). On the other hand we extended our INS-1 Flp-In T-REx™ cell lines with a Shield-1 dependent conditional control system of protein stability. Therefore, we fused HNF4α to the destabilization domain (DD) deduced from human FKBP12 protein. As a result in both approaches basal transgene expression level was markedly reduced, but
Our son Carter was born on January 11, 2011 with OEIS and prune belly syndrome. Meant to Be tells the story of his medical adventures since birth, our special moments, and his sweet spirit. Piatt - Party of 3 is my personal blog about the adventures of being a superhero (aka: mom, wife, sister, daughter, employee, child of God). If you enjoy them, follow them ...
Urethral agenesis (or urethral atresia) refers to a situation where there is a congenital absence of the urethra. It can be a cause of fetal obstructive uropathy. Pathology Associations prune belly syndrome 5 bladder agenesis 2 Radiographic...
Animals. Ppargfl/fl, Akt2fl/fl, Ptenfl/fl, and Hnf1a-/- mouse lines have been previously described (12, 30, 59, 60). SR2595 was synthesized and purified as previously described (35). Animals were maintained in grouped cages in a temperature-controlled pathogen-free facility on a 12-hour/12-hour (8 am-8 pm) light/dark cycle and had free access to water and standard chow (Teklad global protein diet; 20% protein, 75% carbohydrate, 5% fat). Animals were sacrificed between 2 and 4 pm. For the in vivo pharmacological treatments with pioglitazone incorporated in chow food (200 mg/kg), mice had free access to food and were treated for 3 months, from the ages of 5 months to 8 months. For the in vivo pharmacological treatments, SR2595 was administered daily by oral gavage (20 mg/kg). In the pretumoral group, mice were treated daily by oral gavage for 1 month from the ages of 5 to 6 months. For the tumoral group, treatment was initiated at 11 months of age for 1 month. For 5-bromo-2′-deoxyuridine (BrdU) ...
This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008] ...
Pooch Belly Syndrome Why Your Belly Bulges And What To Do About It By David Grisaffi www.flattenyourabs.net QUESTION: Dear David, I am 1.57m, 53kgs, Asian, 45 years old, 2 kids both Caesarian (and I am wondering if this has anything .... Read More » ...