Results 11 to 20 of about 42,925 (253)

Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young [PDF]

Diabetologia, 2002
Mutations in the HNF-1 alpha gene result in maturity-onset diabetes of the young (MODY); an early-onset, dominantly inherited form of diabetes caused by pancreatic beta-cell dysfunction. Splice site mutations represent approximately 10% of reported HNF-1 alpha mutations.
M P, Bulman, L W, Harries, T, Hansen, M, Shepherd, W F, Kelly, A T, Hattersley, S, Ellard   +6 more
openaire   +2 more sources

A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family

Frontiers in Pediatrics, 2020
Maturity-onset diabetes of the young (MODY) classically describes dominantly inherited forms of monogenic diabetes diagnosed before 25 years of age due to pancreatic β-cell dysfunction.
Suresh Chandran, Suresh Chandran, Suresh Chandran, Suresh Chandran, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Wai Han Hoi, Sarah E. Flanagan, Khalid Hussain, Fabian Yap, Fabian Yap, Fabian Yap   +13 more
doaj   +1 more source

Hepatocyte Nuclear Factor-1α Gene Mutations and Diabetes in Norway [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2003
Mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene cause maturity-onset diabetes of the young (MODY), type 3. To estimate the prevalence of MODY3 in Norwegian diabetic pedigrees, we screened a total of 130 families for HNF-1 alpha mutations; 42 families with clinical MODY, 75 with suspected MODY, and 13 pedigrees with multiplex type 1 ...
Lise, Bjørkhaug, Jørn V, Sagen, Per, Thorsby, Oddmund, Søvik, Anders, Molven, Pål R, Njølstad   +5 more
openaire   +2 more sources

Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case–control study in the Tunisian population and a meta-analysis

Diabetology & Metabolic Syndrome, 2022
Background Variants in the Hepatocyte Nuclear Factor 1 Alpha gene (HNF1A) are associated with lipoproteins levels and type 2 diabetes. In this study, we aimed to assess the association of HNF1A gene and haplotypes with the metabolic syndrome (MetS) and ...
Hamza Dallali, Meriem Hechmi, Imane Morjane, Sahar Elouej, Haifa Jmel, Yosra Ben Halima, Abdelmajid Abid, Afef Bahlous, Abdelhamid Barakat, Henda Jamoussi, Sonia Abdelhak, Rym Kefi   +11 more
doaj   +1 more source

The Protective Effect and Mechanism of a Phytochemical Extract from the Wild Vegetable Shutou (Crateva unilocularis Buch.) against Acetaminophen-Induced Liver Injury in Mice

Foods, 2023
Acetaminophen (APAP) abuse is a common public health problem which can cause severe liver damage. However, strategies for dealing with this situation safely and effectively are very limited. The goal of the current work was to evaluate the protection and
Meimei Shan, Qian Ma, Yilin Sun, Fengyi Gao, Shengbao Cai   +4 more
doaj   +1 more source

The Use of Cell-penetrating Peptide for Delivery of Recombinant Transcription Factor DNA into Primary Human Fibroblast

MCBS (Molecular and Cellular Biomedical Sciences), 2023
Background: Reprogrammed cell therapy has not been applied for clinical purposes due to the malignancy issue. The aim of this study was to design the recombinant vector of the transcription factors and analyze the effectiveness of cell-penetrating ...
Melinda Remelia, Budiman Bela, Silvia Tri Widyaningtyas, Radiana Dhewayani Antarianto, Nuzli Fahdia Mazfufah, Jeanne Adiwinata Pawitan   +5 more
doaj   +1 more source

Mutations in transcription factor as rare causes of diabetes in pregnancy

Сахарный диабет, 2019
MODY1 and MODY3 represent rare causes of diabetes in pregnancy. Establishing a molecular diagnosis of MODY1 or MODY3 during pregnancy may be important for minimizing risk of perinatal complications and for improving glycemic control after pregnancy.
Natalia A. Zubkova, Fatima F. Burumkulova, Vasily A. Petrukhin, Margarita A. Plechanova, Anton E. Panov, Evgeny V. Vasilyev, Vasily M. Petrov, Nina A. Makretskaya, Anatoliy N. Tyulpakov   +8 more
doaj   +1 more source

Malignant Transformation of an HNF1a-Inactivated Hepatocellular Adenoma to Hepatocellular Carcinoma

Case Reports in Gastroenterology, 2020
Hepatocellular adenomas (HCA) are rare benign tumors of the liver, occurring predominantly in females using oral contraceptives. Our case describes a 66-year-old woman presenting with a palpable mass in her upper abdomen.
Joris T. Hepkema, Floris B. Poelmann, Annette S.H. Gouw, Robbert J. de Haas, Evelien W. Duiker, Hans Blokzijl, Joost M. Klaase   +6 more
doaj   +1 more source

Metabolomic analysis of the Hepatocyte Nuclear Factor 1 Alpha knockout mouse

The FASEB Journal, 2010
Genomic mutations in the transcription factor hepatocyte nuclear factor 1 alpha ( HNF1α ) result in maturity‐onset diabetes of the young type 3 (MODY3), a form of non‐insulin dependent diabetes mellitus (NIDDM). In addition, Hnf1α was identified
Jessica A Bonzo, Andrew D Patterson, Kristopher W Krausz, Frank J Gonzalez   +3 more
openaire   +1 more source

Repression of hepatocyte nuclear factor 4 alpha by AP-1 underlies dyslipidemia associated with retinoic acid[S]

Journal of Lipid Research, 2019
All-trans retinoic acid (atRA) is used to treat certain cancers and dermatologic diseases. A common adverse effect of atRA is hypercholesterolemia; cytochrome P450 (CYP) 7A repression is suggested as a driver. However, the underlying molecular mechanisms
Kyoung-Jae Won, Joo-Seop Park, Hyunyoung Jeong   +2 more
doaj   +1 more source