Hepatocyte nuclear factor 1 beta: A perspective in cancer [PDF]
Cancer Medicine, 2021 Hepatocyte nuclear factor 1 beta (HNF1 β/B) exists as a homeobox transcription factor having a vital role in the embryonic development of organs mainly liver, kidney and pancreas. Initially described as a gene causing maturity‐onset diabetes of the young
Shubhra Chandra +2 more
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Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation [PDF]
Medeniyet Medical Journal, 2021 Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome.
Nilüfer Göknar +5 more
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Hepatocyte nuclear factor-1 beta protects endometriotic cells against apoptotic cell death by up-regulating the expression of antiapoptotic genes† [PDF]
Biology of Reproduction, 2019 AbstractThe overexpression of hepatocyte nuclear factor-1 beta (HNF1β) in endometriotic lesion has been demonstrated. However, the role of HNF1β in endometriosis remains largely unknown. Human endometriotic 12Z cells showed higher level of HNF1β when compared with normal endometrial HES cells. In human endometriotic 12Z cells, HNF1β knockdown increased
Umma Hafsa Preya +3 more
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The European Research Journal, 2022 Objectives: Testicular tumors are common solid malignancies in young fertile men, and most are germ cell tumors. In general, they originate from a single germ cell and transform into different tumor types or present with the coexistence of different morphological patterns.
Remzi Arslan
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Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome [PDF]
Diabetologia, 2004 Mutations in the hepatocyte nuclear factor-1 beta ( HNF-1 beta) gene result in disorders of renal development, typically involving renal cysts and early-onset diabetes (the RCAD syndrome/ MODY5). Sixteen mutations have been reported, including three splicing mutations of the intron 2 splice donor site.
Andrew T. Hattersley +4 more
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Delineating the role of Hepatocyte Nuclear Factor 1 Beta (HNF1B) transcript variants in prostate cancer [PDF]
, 2020 Genome Wide Association Studies (GWAS) has identified HNF1B located at chromosome 17q12 as foremost risk gene for prostate cancer susceptibility in multi-ethnic populations. This thesis characterises the HNF1B transcript variants along with defining their expression pattern and functional attributes in prostate cancer.
Shubhra Chandra
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Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward [PDF]
BMC Endocrine Disorders, 2012 Background Mutations in the transcription factor hepatocyte nuclear factor-1-alpha (HNF1A) result in the commonest type of maturity onset diabetes of the young (MODY).
Bacon Siobhan +7 more
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Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland. [PDF]
Am J Case Rep, 2021 BACKGROUND Maturity onset diabetes of the young (MODY) usually presents in patients under the age of 25 years and is an autosomal dominant condition associated with mutations in the hepatocyte nuclear factor 1 alpha gene, glucokinase gene, or hepatocyte nuclear factor 4 alpha gene.
Motyka R +5 more
europepmc +5 more sources
An interesting unfolding of the diagnosis of hepatocyte nuclear factor‐1 beta (HNF1β) monogenic diabetes [PDF]
Practical Diabetes, 2017 AbstractThe HNF1B gene plays an important role in endodermal development, and mutations of HNF1B are associated with the renal cysts and diabetes (RCAD) syndrome. Other than renal cystic malformations and monogenic diabetes, various other abnormalities have been described depending on HNF1β expression.
Pallavi Hegde +4 more
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