Results 41 to 50 of about 1,191 (166)

Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center [PDF]

Archives of Endocrinology and Metabolism
Objective: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and ...
Carolina Paniago Lopes, Gentil Ferreira Gonçalves Neto, Maria Fernanda Vanti Macedo Paulino, Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Elizabeth João Pavin, Ikaro Soares Santos Breder, Mariana Zorron Mei Hsia Pu, Sofia Helena Valente de Lemos-Marini, Gil Guerra Junior   +9 more
doaj   +1 more source

The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs

BMC Genetics, 2020
Background Although the molecular function of wolframin remains unclear, the lack of this protein is known to cause stress in the endoplasmic reticulum.
Dora Koller, Eniko Kubinyi, Zsuzsanna Elek, Helga Nemeth, Adam Miklosi, Maria Sasvari-Szekely, Zsolt Ronai   +6 more
doaj   +1 more source

Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus. [PDF]

PLoS ONE, 2015
The absolute or relative lack of insulin is the key factor in the pathogenesis of diabetes mellitus. Although the connection between loss of function mutations of the WFS1 gene and DIDMOAD-syndrome including diabetes mellitus underpins the significance ...
Zsuzsanna Elek, Nóra Németh, Géza Nagy, Helga Németh, Anikó Somogyi, Nóra Hosszufalusi, Mária Sasvári-Székely, Zsolt Rónai   +7 more
doaj   +1 more source

Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome

Jornal de Pediatria, 2002
Objetivos: relatar o caso de um paciente com diagnóstico de síndrome de Wolfram (SW) e braquidactilia do tipo E. A síndrome de Wolfram é caracterizada pela presença de diabetes melito, diabetes insípido, atrofia do nervo óptico, alterações do trato ...
Paulo R.G. Zen, Louise L.C. Pinto, Ida V.D. Schwartz, Timothy G. Barrett, Giorgio Paskulin   +4 more
doaj   +1 more source

Navigating the Genetic Risk of Chemotherapy-Induced Hearing Loss in the Stria Vascularis. [PDF]

Clin Pharmacol Ther
Cisplatin is a chemotherapy drug that causes permanent hearing loss by damaging a critical tissue lining the inner ear, called the stria vascularis (SV). Currently, the molecular mechanisms of SV damage are largely unknown and the incidence of ototoxicity in patients cannot be reliably predicted.
Lazetic T, Miao DNR, Drögemöller BI, Dabdoub A, Abitbol JM.   +4 more
europepmc   +2 more sources

Identification and Characterization of Wolframin, the Product of the Wolfram Syndrome Gene (WFS1), as a Novel Calmodulin-Binding Protein

, 2016
To search for calmodulin (CaM) targets, we performed affinity chromatography purification of a rat brain extract using CaM fused with GST as the affinity ligand. Proteomic analysis was then carried out to identify CaM-binding proteins.
Naoya Hatano (2166427), Tsutomu Masaki (121136), Ryoji Kobayashi (2166424), Saki Yurimoto (2166421), Tomohito Fujimoto (1576618), Mitsumasa Tsuchiya (2375983), Kiyohito Kato (2375980), Hiroshi Tokumitsu (1576615)   +7 more
core   +2 more sources

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin [PDF]

Neurology Genetics, 2021
To describe the WFS1 c.1672C>T; p.R558C missense variant, found in 1.34% of Ashkenazi Jews, that has a relatively mild phenotype and to use computational normal mode analysis (NMA) to explain the genotype-phenotype relationship.The clinical, laboratory, and genetic features of 8 homozygotes were collected.
Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou, Lior Greenbaum, Hadas Stiebel-Kalish, Felix Benninger, Yael Goldberg   +13 more
openaire   +2 more sources

Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene [PDF]

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2013
AbstractRare mutations in the WFS1 gene lead to Wolfram syndrome, a severe multisystem disorder with progressive neurodegeneration and diabetes mellitus causing life‐threatening complications and premature death. Only a few association studies using small clinical samples tested the possible effects of common WFS1 gene variants on mood disorders and ...
Kovács-Nagy Réka, Elek Zsuzsanna, Székely Anna, Nánási Tibor, Sasvári-Székely Mária, Rónai Zsolt   +5 more
openaire   +3 more sources

An investigation on wolframin function in health and disease

, 2021
Wolfram syndrome (WS) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes and psychiatric traits are the most prominent. WFS1 encodes for the ER-resident transmembrane protein wolframin (WFS1), whose structure and functions are only partially understood ...
openaire   +2 more sources

Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach. [PDF]

Pediatr Diabetes
Objective: Wolfram Syndrome Type 1 (WS1) is a rare neurodegenerative disorder characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and deafness (D) due to biallelic mutations in the WFS1 gene. As the cardinal symptoms of DI, polyuria and polydipsia, overlap with those of DM, DI might be underdiagnosed or delayed in the ...
Gundogdu Ogutlu OB, Cayır A, Donmez AS, Koca SB, Yarali O, Demirbilek H.   +5 more
europepmc   +2 more sources