HNF1B mutation is the leading cause of isolated hyperechogenic fetal kidneys with normal or moderately large size. Although most cases have normal amniotic fluid volume, some cases present with early oligohydramnios and renal failure associated with high perinatal mortality....
cysts at any age who develop cholestasis and/or exocrine pancreatic insufficiency should be tested for HNF1B variants as the true etiological factor of all disease components.Further observations are needed to confirm the potential reversibility of cholestasis in infancy in HNF1B mutation/deletion ...
MarkerChrNearest geneType of mutationAllele (effect/other)Odds ratio (95% CI)Discovery cohort rs10923931 1 NOTCH2 Intronic T/G 1.13 (1.08–1.17) Zeggini et al., 2008 rs340874 1 PROX1* 2 kb upstream C/T 1.07 (1.05–1.09) Dupuis et al., 2010 rs243021 2 BCL11A 99 kb downstream A...
Connecting enhancers with their target genes is a major challenge. In contrast to promoters that reside in the first 1–2 kb upstream of the TSS of a gene, enhancers can be found much far away from the genes they influence. InXenopus tropicalis, CNS1 is located 16.6 kb upstream of thehn...
【关键词】HNF-1β基因；背侧胰腺发育不全；MODY5【中图分类号】R587.1【文献标识码】A DOI:10.3969/j.issn.1009-3257.2023.05.001Clinical and HNF-1β Gene Variant Analysis in One Case with Agenesis of Dorsal Pancreas and MODY5 WU Xue 1, YANG Wei 1, CAO Bing-yan 2, CHEN Yong-xing...
tissue specific gene function, expression and development, and the development of the kidney in the fetus. The article reviewsthe HNF1 beta genetic relationship Ijetween abnormal fetal kidney in terms of the mechanism, the abnormal fetal kidney phenotype and amniotic fluid caused by gene mutation....
In the light of these facts we considered the possibility of a HNF1B mutation. The sequencing study of this gene confirmed a heterozygous mutation leading to a truncated and less functional protein. Genetic studies of his relatives were negative; consequently, it was classified as a de novo ...
(https://tcga-data.nci.nih.gov/tcgafiles/ftp_auth/distro_ftpusers/anonymous/tumour/ov/). Data generated with the following platforms were used: Affymetrix HT Human Genome U133 Array Plate Set; Agilent 244K Custom Gene Expression G4502A-07-3; Affymetrix Human Exon 1.0 ST Array; and Illumina...
A novel pL145Q mutation in the HNF1B gene in a case of maturity-onset diabetes of the young type 5 (MODY5)[J]. Internal Med, 2018,57(14):2035-2039. DOI: 10.2169/internalmedicine.9692-17 . 返回引文位置Google Scholar 百度学术 万方数据 [4] Horikawa Y , Enya M , Fushimi N ,et ...
Objective: In this study, we identified a novel HNF1B gene mutation (c.445C>A) in a young male MODY5 patient with and elevated serum creatinine levels and albuminuria.Method: We constructed the HNF1B wild type (HNF1B-WT) and the novel missense mutation (c.445C>A) Mutant (HNF1B-...