Cargando…

A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family

BACKGROUND: Maturity-onset diabetes of the young (MODY) is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. Eleven genes were related, including HNF4α, GCK, HNF1α, IPF1, and HNF-1β, and various mutations are being reported. METHODS: To help the overall u...

Descripción completa

Detalles Bibliográficos
Autores principales:	ZHOU, Peng, WEI, Ran, GUO, Zhenkui, ZHU, Haining, CAMPBELL, Desmond, LI, Qi, XU, Xiaoqun, WANG, Junfu, LUAN, Meng, CHEN, Xing, CHEN, Gang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Tehran University of Medical Sciences 2016
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841871/ https://www.ncbi.nlm.nih.gov/pubmed/27114981

Ejemplares similares

Maturity onset diabetes of the young due to HNF1A variants in Croatia
por: Pavić, Tamara, et al.
Publicado: (2018)

Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY)
por: Verma, Megha, et al.
Publicado: (2022)

Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center
por: Amaral, Sara, et al.
Publicado: (2023)

HNF1β Diabetes or Maturity-Onset Diabetes of the Young Type 5 With Rare HNF1β Mutation: A Case Report
por: Haynes, Autumn L., et al.
Publicado: (2019)

An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β function
por: Cujba, Ana-Maria, et al.
Publicado: (2022)

New HNF‐1α nonsense mutation causes maturity‐onset diabetes of the young type 3
por: Nogaroto, Viviane, et al.
Publicado: (2011)

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young
por: Berberich, Amanda J., et al.
Publicado: (2019)

Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report
por: Xu, Qian, et al.
Publicado: (2022)

Genetic testing for maturity-onset diabetes of the young resulting in an upgraded genetic classification of an HNF1A gene variant: a case report
por: Pollack-Schreiber, Naama, et al.
Publicado: (2023)

De novo HNF1A mutation of young maturity-onset diabetes 3 of a young girl—Case report
por: Peng, Haoran, et al.
Publicado: (2023)

HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response
por: Arya, V B, et al.
Publicado: (2014)

HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report
por: Plengvidhya, Nattachet, et al.
Publicado: (2019)

GAD‐65 antibodies in a case of HNF1A‐Maturity‐Onset Diabetes of the Young: Double diabetes?
por: Sjöholm, Åke
Publicado: (2021)

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)
por: Jo, Wakako, et al.
Publicado: (2012)

HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey
por: Beysel, Selvihan, et al.
Publicado: (2019)

Human iPSCs-Derived Endothelial Cells with Mutation in HNF1A as a Model of Maturity-Onset Diabetes of the Young
por: Kachamakova-Trojanowska, Neli, et al.
Publicado: (2019)

Identification and precision therapy for three maturity-onset diabetes of the young (MODY) families caused by mutations in the HNF4A gene
por: Zhang, Juan, et al.
Publicado: (2023)

Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3
por: Knebel, Birgit, et al.
Publicado: (2016)

Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy
por: Oba, Yuki, et al.
Publicado: (2020)

New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population
por: Ma, Yumin, et al.
Publicado: (2020)

Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations
por: Owen, Katharine R., et al.
Publicado: (2010)

Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)
por: Kim, Eun Ky, et al.
Publicado: (2014)

A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations
por: Ovsyannikova, A. K., et al.
Publicado: (2017)

A novel splice-site mutation of the HNF1B gene in a family with maturity onset diabetes of the young type 5 (MODY5)
por: Fujita, Yuki, et al.
Publicado: (2020)

Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young
por: Tang, Chaoyan, et al.
Publicado: (2021)

Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young
por: Li, Juyi, et al.
Publicado: (2021)

ASSOCIATION BETWEEN GENETIC VARIANTS IN THE HNF4A GENE AND CHILDHOOD-ONSET CROHN’S DISEASE
por: Marcil, Valerie, et al.
Publicado: (2012)

Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
por: Rafique, Ibrar, et al.
Publicado: (2021)

A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5)
por: Kato, Tomoko, et al.
Publicado: (2018)

Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review
por: Mateus, Juan Camilo, et al.
Publicado: (2020)

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
por: Mirshahi, Uyenlinh L, et al.
Publicado: (2022)

Precision therapy for three Chinese families with maturity-onset diabetes of the young (MODY12)
por: Li, Juyi, et al.
Publicado: (2022)

ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): A Report of a Chinese Family
por: Lin, Leweihua, et al.
Publicado: (2020)

Meta-analysis of the differentially expressed microRNA profiles in nasopharyngeal carcinoma
por: Luan, Junwen, et al.
Publicado: (2016)

The role of MMP-2 and MMP-9 in the metastasis and development of hypopharyngeal carcinoma
por: Song, Zhe, et al.
Publicado: (2019)

Impact of Nucleotide Mutations at the HNF3- and HNF4-Binding Sites in Enhancer 1 on Viral Replication in Patients with Chronic Hepatitis B Virus Infection
por: Cho, Eun-young, et al.
Publicado: (2013)

Recognition of maturity‐onset diabetes of the young in China
por: Liang, Hua, et al.
Publicado: (2020)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
por: Li, Xiuzhen, et al.
Publicado: (2018)

Variants influencing age at diagnosis of HNF1A-MODY
por: Ludwig-Słomczyńska, Agnieszka H., et al.
Publicado: (2022)

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes
por: Misra, Shivani, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_rkgrjso0mt2ejumej847u3uncm