Results 1 to 10 of about 41,374 (252)

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, Srilakshmi Srinivasan, Jyotsna Batra   +2 more
doaj   +7 more sources

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, Melda Ekici Avcı, Diana Üçkardeş, Emre Keleşoğlu, Kübra Tekkuş Ermiş, Cengiz Candan   +5 more
doaj   +4 more sources

A renal hyperechogenicity study: From the phenotype to the genotype in the mutation of hepatocyte nuclear factor-1 beta gene

Anales de Pediatría (English Edition), 2019
Pilar Ribes Hernández, Adoración Granados Molina, Alicia García Pérez, Saoud Tahsin Swafiri, Esther Pérez Carbajo   +4 more
doaj   +4 more sources

Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study [PDF]

Frontiers in Endocrinology
Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes caused by functional loss of the transcription factor, hepatocyte nuclear factor-1 beta (HNF1B).
Chisato Umeda, Chisato Umeda, Eri Imagawa, Sayaka Hokazono, Tsuyoshi Konuma, Toshiki Tsunogai, Daishi Hirano, Kimihiko Oishi   +7 more
doaj   +2 more sources

Immunohistochemical expression of hepatocyte nuclear factor 1.BETA. in endometrial clear cell adenocarcinoma-Comparison of expression in endometrioid adenocarcinoma-

The Journal of the Japanese Society of Clinical Cytology, 2008
目的 : 子宮体部明細胞腺癌 (以下, 明細胞腺癌) および類内膜腺癌の hepatocyte nuclear factor-1 beta (以下, HNF-1β) 発現について酵素抗体法を用いた検討を行った.方法 : 組織, 細胞学的に子宮体部腺癌と診断された 38 例 (明細胞腺癌 : 6 例, 類内膜腺癌 G1 : 15 例, G2 : 12 例, G3 : 5 例) を用いた. 判定に際しては, 腫瘍細胞の核に発現を示すものを陽性とし, 半定量的に評価した (− : 陰性, 1+ : 30%以下, 2+ : 30∼70%, 3+ : 70%以上).成績 : 明細胞腺癌における HNF-1β発現は, 細胞, 組織標本のいずれも全例に種々の程度で認められた.
Hiroshi Kajiwara, Kanako Wakui, Hitoshi Itoh   +2 more
exaly   +3 more sources

Primary Yolk Sac Tumor of the Endometrium: A Case Report and Comprehensive Literature Review [PDF]

Case Reports in Pathology
Yolk sac tumor (YST) of the endometrium is very rare, with fewer than 40 cases reported in the English literature. We here describe a case of primary endometrial YST and discuss the clinicopathological features with a literature review.
Hao Cheng, Yan Song, Su-sheng Shi
doaj   +2 more sources

Immunocytochemical hepatocyte nuclear factor-1.BETA. expression in effusions

The Journal of the Japanese Society of Clinical Cytology, 2010
Hiroshi Kajiwara, Hitoshi Itoh, Yoshiyuki Osamura   +2 more
exaly   +2 more sources

FP054PHENOTYPIC ANALYSIS OF A COHORT OF PATIENTS WITH HEPATOCYTE NUCLEAR FACTOR 1 BETA (HNF1b) MUTATIONS [PDF]

Nephrology Dialysis Transplantation, 2015
John Sayer, Sayer John A
exaly   +2 more sources

Maturity‐onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case

Journal of Diabetes Investigation, 2022
A 34‐year‐old man visited our Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, because of dry mouth and weight loss.
Akiko Hayakawa‐Iwamoto, Daisuke Aotani, Yuki Shimizu, Shota Kakoi, Chie Hasegawa, Shunsuke Itoh, Asami Fujii, Katsushi Takeda, Takashi Yagi, Hiroyuki Koyama, Kenro Imaeda, Kandai Nozu, China Nagano, Hiromi Kataoka, Tomohiro Tanaka   +14 more
doaj   +1 more source

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.
L W, Harries, S, Ellard, R W A, Jones, A T, Hattersley, C, Bingham   +4 more
openaire   +2 more sources