Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

Monogenic human disorders have been used as paradigms for complex genetic disease and as tools for establishing important insights into mechanisms of gene regulation and transcriptional control. Maturity-onset diabetes of the young (MODY) is a monogenic dominantly inherited form of diabetes that is...

Detaylı Bibliyografya
Asıl Yazarlar:	Gloyn, A, Ellard, S, Shepherd, M, Howell, RT, Parry, E, Jefferson, A, Levy, E, Hattersley, A
Materyal Türü:	Journal article
Dil:	English
Baskı/Yayın Bilgisi:	2002

Benzer Materyaller

The role of the HNF4alpha enhancer in type 2 diabetes.
Yazar:: Mitchell, S, ve diğerleri
Baskı/Yayın Bilgisi: (2002)

The role of the HNF4α enhancer in type 2 diabetes variants of the HNF4α enhancer are not a common cause of susceptibility to type 2 diabetes
Yazar:: Mitchell, S, ve diğerleri
Baskı/Yayın Bilgisi: (2002)

Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.
Yazar:: Harries, L, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.
Yazar:: Lorna W Harries, ve diğerleri
Baskı/Yayın Bilgisi: (2009-11-01)

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
Yazar:: McDonald, T, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
Yazar:: McDonald, T, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

The role of hepatocyte nuclear factor 4α (HNF4α) in tumorigenesis
Yazar:: Lei Sang, ve diğerleri
Baskı/Yayın Bilgisi: (2022-09-01)

HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes
Yazar:: Natasha Hui Jin Ng, ve diğerleri
Baskı/Yayın Bilgisi: (2024-06-01)

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
Yazar:: Ewan R Pearson, ve diğerleri
Baskı/Yayın Bilgisi: (2007-04-01)

The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes
Yazar:: Laver, T, ve diğerleri
Baskı/Yayın Bilgisi: (2016)

Role of low frequency variants in HNF1A exons 8-10 encoding hepatocyte nuclear factor-1 alpha isoform A to susceptibility to Type 2 diabetes
Yazar:: Jafar-Mohammadi, B, ve diğerleri
Baskı/Yayın Bilgisi: (2010)

Hippo Signaling Influences HNF4A and FOXA2 Enhancer Switching during Hepatocyte Differentiation
Yazar:: Olivia Alder, ve diğerleri
Baskı/Yayın Bilgisi: (2014-10-01)

Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes.
Yazar:: McDonald, T, ve diğerleri
Baskı/Yayın Bilgisi: (2012)

HNF4α Acts as Upstream Functional Regulator of Intestinal Wnt3 and Paneth Cell FateSummary
Yazar:: Christine Jones, ve diğerleri
Baskı/Yayın Bilgisi: (2023-01-01)

Large-scale type 2 diabetes association analysis of low-frequency nonsynonymous coding variants in the HNF4A gene including up to 17,600 individuals
Yazar:: Mohammadi, B, ve diğerleri
Baskı/Yayın Bilgisi: (2008)

Modulation of Hepatocyte Nuclear Factor 4 Alpha (HNF4α): A Critical Mechanism of Disease Progression in Liver Cirrhosis
Yazar:: Udayan Apte
Baskı/Yayın Bilgisi: (2024-01-01)

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility
Yazar:: Jafar-Mohammadi, B, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.
Yazar:: Jafar-Mohammadi, B, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

Structural insights into the HNF4 biology
Yazar:: Brice Beinsteiner, ve diğerleri
Baskı/Yayın Bilgisi: (2023-06-01)

Response to Comment on: McDonald et al. High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes. Diabetes Care 2011;34:1860-1862.
Yazar:: McDonald, T, ve diğerleri
Baskı/Yayın Bilgisi: (2011)

Induction of highly functional hepatocytes from human umbilical cord mesenchymal stem cells by HNF4α transduction.
Yazar:: Hualian Hang, ve diğerleri
Baskı/Yayın Bilgisi: (2014-01-01)

Co-encapsulation of HNF4α overexpressing UMSCs and human primary hepatocytes ameliorates mouse acute liver failure
Yazar:: Defu Kong, ve diğerleri
Baskı/Yayın Bilgisi: (2020-10-01)

Complex interplay between the lipin 1 and the hepatocyte nuclear factor 4 α (HNF4α) pathways to regulate liver lipid metabolism.
Yazar:: Zhouji Chen, ve diğerleri
Baskı/Yayın Bilgisi: (2012-01-01)

An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY
Yazar:: Andrew J. Spiro, ve diğerleri
Baskı/Yayın Bilgisi: (2018-01-01)

Variants of the HNF4A and HNF1A genes in patients with impaired glucose metabolism and dyslipidemia
Yazar:: Dinara E. Ivanoshchuk, ve diğerleri
Baskı/Yayın Bilgisi: (2022-01-01)

LncRNA Hnf4αos exacerbates liver ischemia/reperfusion injury in mice via Hnf4αos/Hnf4α duplex-mediated PGC1α suppression
Yazar:: Chaoqun Wang, ve diğerleri
Baskı/Yayın Bilgisi: (2022-11-01)

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to Type 2 diabetes
Yazar:: Jafar-Mohammadi, B, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.
Yazar:: Jafar-Mohammadi, B, ve diğerleri
Baskı/Yayın Bilgisi: (2009)

Transcriptomically Revealed Oligo-Fucoidan Enhances the Immune System and Protects Hepatocytes via the ASGPR/STAT3/HNF4A Axis
Yazar:: Chun-Chia Cheng, ve diğerleri
Baskı/Yayın Bilgisi: (2020-06-01)

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Yazar:: Flanagan, SE, ve diğerleri
Baskı/Yayın Bilgisi: (2006)

Epistasis of transcriptomes reveals synergism between transcriptional activators Hnf1alpha and Hnf4alpha.
Yazar:: Sylvia F Boj, ve diğerleri
Baskı/Yayın Bilgisi: (2010-05-01)

Liver fat storage is controlled by HNF4α through induction of lipophagy and is reversed by a potent HNF4α agonist
Yazar:: Seung-Hee Lee, ve diğerleri
Baskı/Yayın Bilgisi: (2021-06-01)

TAF4, a subunit of transcription factor II D, directs promoter occupancy of nuclear receptor HNF4A during post-natal hepatocyte differentiation
Yazar:: Daniil Alpern, ve diğerleri
Baskı/Yayın Bilgisi: (2014-09-01)

Hepatocyte Nuclear Factor 4α (HNF4α) Is a Transcription Factor of Vertebrate Fatty Acyl Desaturase Gene as Identified in Marine Teleost Siganus canaliculatus.
Yazar:: Yewei Dong, ve diğerleri
Baskı/Yayın Bilgisi: (2016-01-01)

The protein architecture and allosteric landscape of HNF4α
Yazar:: Fraydoon Rastinejad
Baskı/Yayın Bilgisi: (2023-09-01)

Homozygous hypomorphic HNF1A alleles are a novel cause of young-onset diabetes and result in sulphonylurea sensitive diabetes
Yazar:: Misra, S, ve diğerleri
Baskı/Yayın Bilgisi: (2020)

LPS/Bcl3/YAP1 signaling promotes Sox9+HNF4α+ hepatocyte-mediated liver regeneration after hepatectomy
Yazar:: Changchun Shao, ve diğerleri
Baskı/Yayın Bilgisi: (2022-03-01)

A potent HNF4α agonist reveals that HNF4α controls genes important in inflammatory bowel disease and Paneth cells.
Yazar:: Seung-Hee Lee, ve diğerleri
Baskı/Yayın Bilgisi: (2022-01-01)

Assessment of the pathogenicity of the previously reported D526N Hepatocyte Nuclear factor-1 alpha (HNF1A) variant using a combined genetic, in silico and functional approach
Yazar:: Hassanali, N, ve diğerleri
Baskı/Yayın Bilgisi: (2013)

Management of pregnancy in women with monogenic diabetes due to mutations in GCK, HNF1A and HNF4A genes
Yazar:: M. T. Crowley, ve diğerleri
Baskı/Yayın Bilgisi: (2024-06-01)