Results 21 to 30 of about 1,212,597 (189)

The Neuroradiologic Spectrum of Wolfram Syndrome. [PDF]

Ann Indian Acad Neurol
Lam M, Trikamji B.
europepmc   +4 more sources

Wolfram-like Syndrome: Shedding Light on a Variant of Wolfram Syndrome. [PDF]

AACE Endocrinol Diabetes
Wolfram-like syndrome is an autosomal dominant disorder related to classical autosomal recessive Wolfram syndrome. It is characterized by diabetes mellitus, optic atrophy, and sensorineural hearing loss, but typically presents with milder or incomplete features.
Matzer M, Caravantes RA, Schieber López KM, González-Salaices M, Eimil M, Oyanguren B, Gomez P, Alcántara P, Prieto C, Urtiaga S, Portela S, Casanova I.   +11 more
europepmc   +3 more sources

Hearing impairment in genotyped Wolfram syndrome patients [PDF]

, 2008
OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).
Plantinga, RF, Lombardo, F, Cremers, CW, Paquis-Fluklinger, V, Bruno, R, Vialettes, B, Barrett, Timothy; id_orcid, Pennings, RJ, Eller, P, Huygen, PL   +9 more
core   +8 more sources

A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023
Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancreatic islets ...
Ayca Kocaaga, Sevgi Yimenicioglu, Murat Bayav   +2 more
doaj   +1 more source

Psychiatric Diagnoses and Medications in Wolfram Syndrome [PDF]

, 2022
BACKGROUND: Wolfram Syndrome is a rare genetic disorder usually resulting from pathogenic variation in the WFS1 gene, which leads to an exaggerated endoplasmic reticulum (ER) stress response. The disorder is typically characterized by diabetes insipidus,
Sinkre, Richa A., Reiersen, Angela M, Hershey, Tamara, Jacob S. Noel, Tasha Doty, Narayanan, Anagha, Noel, Jacob S., Doty, Tasha, Richa A. Sinkre, Reiersen, Angela M., Tamara Hershey, Angela M. Reiersen, Noel, Jacob S, Sinkre, Richa A, Anagha Narayanan   +14 more
core   +1 more source

Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells

Frontiers in Endocrinology, 2022
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration.
Shuntaro Morikawa, Shuntaro Morikawa, Lindsey Blacher, Chinyere Onwumere, Fumihiko Urano, Fumihiko Urano   +5 more
doaj   +1 more source

Taste and smell function in Wolfram syndrome

Orphanet Journal of Rare Diseases, 2020
Background Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration.
Raul Alfaro, Tasha Doty, Anagha Narayanan, Heather Lugar, Tamara Hershey, M. Yanina Pepino   +5 more
doaj   +1 more source

Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome

JCI Insight, 2022
Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.
Rie Asada Kitamura, Kristina G. Maxwell, Wenjuan Ye, Kelly Kries, Cris M. Brown, Punn Augsornworawat, Yoel Hirsch, Martin M. Johansson, Tzvi Weiden, Joseph Ekstein, Joshua Cohen, Justin Klee, Kent Leslie, Anton Simeonov, Mark J. Henderson, Jeffrey R. Millman, Fumihiko Urano   +16 more
doaj   +1 more source

Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects

Journal of Ophthalmic & Vision Research, 2021
Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three
Mehraban Mirrahimi, Sare Safi, Maryam Mohammadzadeh, Azadeh Doozandeh, Fatemeh Suri   +4 more
doaj   +1 more source

Mutation analysis of wolfram syndrome patients and functional study of the Wolframin protein [PDF]

, 2013
Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterised by juvenile-onset nonautoimmune diabetes mellitus and optic atrophy.
Prince, Samantha
core   +7 more sources