Results 261 to 270 of about 89,971 (313)

Deletion of Hepatocyte Nuclear Factor-1-Beta in an Infant with Prune Belly Syndrome

American Journal of Perinatology, 2010
Prune belly syndrome is a rare congenital disorder characterized by deficiency of abdominal wall muscles, cryptorchidism, and urinary tract anomalies. We have had the opportunity to study a baby with prune belly syndrome associated with an apparently de novo 1.3-megabase interstitial 17q12 microdeletion that includes the hepatocyte nuclear factor-1 ...
Sina Haeri, Patricia Devers, Kathleen Kaiser‐Rogers, Vincent Moylan, Beth A. Torchia, Amanda Horton, Honor M. Wolfe, Arthur S. Aylsworth   +7 more
semanticscholar   +5 more sources

Napsin A, Hepatocyte Nuclear Factor-1-Beta (HNF-1β), Estrogen and Progesterone Receptors Expression in Arias-Stella Reaction

American Journal of Surgical Pathology, 2019
Background: The Arias-Stella reaction (ASR) can mimic endometrial clear cell carcinoma (ECCC) in small biopsies, especially when drug or pregnancy history is unknown. A panel of immunohistochemical markers comprising napsin A, hepatocyte nuclear factor-1-beta (HNF-1β), estrogen and progesterone receptors (ER, PR) has been found
Philip P.C. Ip, Szu-Yen Wang, Oscar Gee‐Wan Wong, Kin-Long Chow, Horace H.Y. Lee, Any Cheung, Ka Yu Tse   +6 more
semanticscholar   +4 more sources

1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1β) POUS and POUHD

Biomolecular NMR Assignments
Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor that plays a key role in the development and function of the liver, pancreas, and kidney. HNF1β plays a key role in early vertebrate development and the morphogenesis of these organs. In humans, heterozygous mutations in the HNF1B gene can result in organ dysplasia, making it the most ...
Sayaka Hokazono, Eri Imagawa, Daishi Hirano, Takahisa Ikegami, Kimihiko Oishi, Tsuyoshi Konuma   +5 more
semanticscholar   +4 more sources

Comparative analysis of Napsin A, alpha-methylacyl-coenzyme A racemase (AMACR, P504S), and hepatocyte nuclear factor 1 beta as diagnostic markers of ovarian clear cell carcinoma: an immunohistochemical study of 279 ovarian tumours

Pathology, 2014
Napsin A and α-methylacyl-coenzyme A racemase (AMACR, P504S) have recently been described as being frequently expressed in clear cell carcinomas (CCC) of the gynecological tract. The present study was conducted to assess the test performance of these newer markers relative to the more traditional marker, hepatocyte nuclear factor 1β (HNF1β), in a large
Oluwole Fadare, Chengquan Zhao, Dineo Khabele, Vinita Parkash, Charles M. Quick, Katja Gwin, Mohamed Mokhtar Desouki   +6 more
semanticscholar   +4 more sources

The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay

Human Genetics, 2005
The nonsense-mediated decay (NMD) pathway is an mRNA surveillance mechanism that detects and degrades transcripts containing premature termination codons. The position of a truncating mutation can govern the resulting phenotype as mutations in the last exon evade NMD.
Lorna W. Harries, Coralie Bingham, Christine Bellanné‐Chantelot, Andrew T. Hattersley, Sian Ellard   +4 more
semanticscholar   +4 more sources

Urinary tract endometriosis masquerading as a renal mass in hepatocyte nuclear factor-1 beta gene mutation

International Urology and Nephrology, 2022
Tung Lin Lee, Henry Sun Sien Ho, Cynthia Ciwei Lim   +2 more
semanticscholar   +4 more sources

1658-P: A Novel Mutation in Hepatocyte Nuclear Factor-1 Beta (HNF1B) in Maturity-Onset Diabetes of the Young 5 (MODY5)

Diabetes, 2020
Maturity-onset diabetes of the young (MODY) is a group of dominantly inherited non-autoimmune diabetes characterized by early onset. Delayed diagnosis or misdiagnosis as type 1 or 2 diabetes is common, but early and correct diagnosis of MODY is important because it significantly alters the management of both the patient and his or her relatives.
Yuki Fujita, Takanori Hyo, Miho Matsubara, Yoshiyuki Hamamoto, Daisuke Tanaka, Yutaka Seino   +5 more
semanticscholar   +3 more sources

Hepatocyte nuclear factor‐1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF‐1β in human pancreatic development

Diabetic Medicine, 2006
AbstractAim  The transcription factor hepatocyte nuclear factor‐1beta (HNF‐1β) is expressed in rodent pancreatic progenitor cells, where it is an important member of the genetic hierarchy that regulates the generation of pancreatic endocrine and exocrine cells.
Emma L. Edghill, Coralie Bingham, A. S. Slingerland, Jayne A.L. Minton, C. Noordam, Sian Ellard, Andrew T. Hattersley   +6 more
semanticscholar   +4 more sources

Phenotypical variability in hepatocyte nuclear transcription factor 1 beta (HNF1[beta]) gene mutation - A five case report

Endocrine Abstracts, 2022
de Assuncao Guilherme, Liliana Fonseca, Catarina Inês Mendes, Sofía Teixeira, Oliveira Maria Joao, Jorge Dores, Teresa Borges, Helena Cardoso   +7 more
semanticscholar   +3 more sources