Results 101 to 110 of about 2,517,817 (182)

Common variants in WFS1 confer risk of type 2 diabetes

We studied genes involved in pancreatic β cell function and survival, identifying associations between SNPs in WFS1 and diabetes risk in UK populations that we replicated in an Ashkenazi population and in additional UK studies.
McCarthy MI, Tavendale R, Palmer CNA, Walker M, Barroso I, Hitman G, Blech I, Pharoah PD, Permutt MA, Fawcett KA, Neumann RJ, Weedon MN, Morris AD, Sandhu MS, Hattersley AT, Lango H, Daly A, Kimber C, Glaser B, Wareham NJ, Wasson J, Frayling TM, Debenham SL, Sherva R   +23 more
core   +5 more sources

Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches. [PDF]

Sci Rep, 2023
Zhao J, Zhang S, Jiang Y, Liu Y, Zhu Q.
europepmc   +1 more source

Wolfram Syndrome Type I Case Report and Review—Focus on Early Diagnosis and Genetic Variants

Medicina
Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children.
Alexandru Daniel Jurca, Larisa Bianca Galea-Holhos, Aurora Alexandra Jurca, Diter Atasie, Codruta Diana Petchesi, Emilia Severin, Claudia Maria Jurca   +6 more
doaj   +1 more source

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4. [PDF]

Int J Mol Sci, 2021
Delvecchio M, Ortolani F, Palumbo O, Aloi C, Salina A, Susca FC, Palumbo P, Carella M, Resta N, Piccinno E.   +9 more
europepmc   +1 more source

Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1) [PDF]

Diabetologia, 1999
openaire   +2 more sources

Molecular characterization of WFS1 in patients with Wolfram syndrome.

, 2003
Item does not contain fulltextWolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy ...
Maassen, J.A., Van Camp, G, Dikkeschei, L.D., Van den Ouweland, JMW, Camp, G. van, Walraven, Inge, Cryns, Kim, Lindhout, Dick, Lindhout, D, Alexander B. Arntzenius, Veldhuijzen, Bernard F.E., Janssen, G.M., Janssen, GMC, Cremers, C.W.R.J., Inge Walraven, Lindhout, D., van den Ouweland, Johannes M.W., Cryns, K., Lambert D. Dikkeschei, Cryns, K, Veldhuijzen, B.F., Johannes M.W. Van Den Ouweland, Pennings, R.J.E., Ouweland, J.M.W. van den, Bernard F.E. Veldhuijzen, Maassen, J. Antonie, Dick Lindhout, Cremers, Cor W.R.J., Dikkeschei, Lambert D., J. Antonie Maassen, Walraven, I., Walraven, [No Value], Arntzenius, AB, Pennings, Ronald J.E., Arntzenius, Alexander B., Kim Cryns, Dikkeschei, LD, George M.C. Janssen, Arntzenius, A.B., Ronald J.E. Pennings, Veldhuijzen, BFE, Janssen, George M.C., Cor W.R.J. Cremers, Pennings, RJE, Maassen, JA, Van Camp, Guy, Guy Van Camp, Cremers, CWRJ   +47 more
core   +1 more source

RNASeq highlights ATF6 pathway regulators for CHO cell engineering with different impacts of ATF6β and WFS1 knockdown on fed-batch production of IgG1

Scientific Reports
Secretion levels required of industrial Chinese hamster ovary (CHO) cell lines can challenge endoplasmic reticulum (ER) homeostasis, and ER stress caused by accumulation of misfolded proteins can be a bottleneck in biomanufacturing.
Dyllan Rives, Caroline Peak, Mark A. Blenner   +2 more
doaj   +1 more source

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

, 2001
Wolfram syndrome (WS) is the inherited association of juvenile-onset insulin-dependant diabetes mellitus and progressive bilateral optic atrophy. A nuclear gene, WFS1/wolframin, was identified that segregated with disease status and demonstrated an ...
Khanim, Farhat, Jeremy Kirk, Farida Latif, Timothy G. Barrett, Barrett, Timothy; id_orcid, Kirk, Jeremy, Latif, Farida, Farhat Khanim   +7 more
core   +1 more source

PPARG, TMEM163, UBE2E2, and WFS1 Gene Polymorphisms Are Not Significant Risk Factors for Gestational Diabetes in the Polish Population. [PDF]

J Pers Med, 2022
Ustianowski P, Malinowski D, Safranow K, Dziedziejko V, Tarnowski M, Pawlik A.   +5 more
europepmc   +1 more source

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity). [PDF]

J Clin Lab Anal, 2020
Torkamandi S, Rezaei S, Mirfakhraie R, Bayat S, Piltan S, Gholami M.   +5 more
europepmc   +1 more source