Results 21 to 30 of about 1,362 (148)

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features. [PDF]

PLoS ONE, 2014
BACKGROUND: Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome.
Kimie Matsunaga, Katsuya Tanabe, Hiroshi Inoue, Shigeru Okuya, Yasuharu Ohta, Masaru Akiyama, Akihiko Taguchi, Yukari Kora, Naoko Okayama, Yuichiro Yamada, Yasuhiko Wada, Shin Amemiya, Shigetaka Sugihara, Yuzo Nakao, Yoshitomo Oka, Yukio Tanizawa   +15 more
doaj   +2 more sources

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

JCRPE, 2021
Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and ...
Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain   +13 more
doaj   +2 more sources

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

Case Reports in Endocrinology, 2018
Background. Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function.
N. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky, L. E. Donovan   +4 more
doaj   +2 more sources

Sakharnyy diabet pri ataksii Fridreykha

Сахарный диабет, 2000
Сочетание сахарного диабета (СД) с различными наследственными заболеваниями и синдромами считается одним из доказательств его генетической гетерогенности.
O S Shcheglova, G E Rudenskaya, Tamara Leonidovna Kuraeva, S A Klyushnikov   +3 more
doaj   +2 more sources

A case Report of Wolfram Syndrome

Journal of Rehabilitation, 2007
Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness).
Zahra Razavi, Mohammad Mehdi Taghdiri
doaj   +1 more source

The tale of Wolfram syndrome in a young child versus an adolescent: Two case reports

Indian Journal of Ophthalmology. Case Reports, 2023
Wolfram Syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus (DM) and optic atrophy (OA), known as DIDMOAD (diabetes insipidus [DI], diabetes mellitus, optic atrophy ...
Hirika Gosalia, Soveeta Rath, Virna M Shah, Suma Ganesh   +3 more
doaj   +1 more source

Wolfram Syndrome‐2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review

JPGN Reports, Volume 4, Issue 3, August 2023., 2023
Background: There are very few reports of Wolfram syndrome‐2 (WFS2) in the literature, and understanding of involvement of the gastrointestinal (GI) tract in the syndrome is limited. Objectives: This study aims to describe the clinical presentations of a large number of WFS2 patients with specific focus on their GI manifestations.
Rania Atieh, Thomas Ciecierega, Muttaz Abusamra, Motee Abuawwad, Abdulsalam Abu‐Libdeh, Mutaz Sultan   +5 more
wiley   +1 more source

A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low‐Frequency Sensorineural Hearing Loss

BioMed Research International, Volume 2022, Issue 1, 2022., 2022
Background. Nonsyndromic low‐frequency sensorineural hearing loss (LFSNHL) is an uncommon form of hearing loss (HL) that typically affects frequencies at 2000 Hz and below. Heterozygous variants in the WFS1 gene at the DFNA6/14/38 locus are considered a common cause of LFSNHL.
Jingyu Ma, Rongrong Wang, Li Zhang, Shanshan Wang, Shuqing Tong, Xiaohui Bai, Zhiming Lu, Jing He   +7 more
wiley   +1 more source

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype

BioMed Research International, Volume 2021, Issue 1, 2021., 2021
Objective. Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low‐frequency hearing loss (HL). This study is aimed at investigating the molecular basis of HL in an affected Chinese family and the genotype‐phenotype correlation of WFS1 variants. Methods.
Jinying Li, Hongen Xu, Jianfeng Sun, Yongan Tian, Danhua Liu, Yaping Qin, Huanfei Liu, Ruijun Li, Lingling Neng, Xiaohua Deng, Binbin Xue, Changyun Yu, Wenxue Tang, Burak Durmaz   +13 more
wiley   +1 more source

The challenge of pregnancy in the DIDMOAD syndrome

DIDMOAD syndrome includes diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Pregnancies in the DIDMOAD syndrome are rare, and successful pregnancies are extremely rare. Despite the full DIDMOAD syndrome including diabetes mellitus for 30
Gallagher A, Hutchison RS, Kelly WF
core   +5 more sources