Results 31 to 40 of about 1,298,739 (158)

A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom

Orphanet Journal of Rare Diseases, 2019
Background Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness.
Sana Eljamel, Wrik Ghosh, Sachin De Stone, Annabel Griffiths, Timothy Barrett, Richard Thompson   +5 more
doaj   +1 more source

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome

BMC Endocrine Disorders, 2021
Background Wolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose main cause is mutations in the WFS1 and CISD2 genes. Its characteristic clinical manifestations are diabetes insipidus, diabetes mellitus, optic atrophy and deafness ...
Ziyu Ren, Jixiu Yi, Min Zhong, Yunting Wang, Qicong Liu, Xuan Wang, Dongfang Liu, Wei Ren   +7 more
doaj   +1 more source

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters

American Journal of Ophthalmology Case Reports, 2022
Purpose: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. Observations: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence.
Tryfon Rotsos, Evangelia Papakonstantinou, Chrysanthos Symeonidis, Augoustinos Krassas, Smaragda Kamakari   +4 more
doaj   +1 more source

Wolfram syndrome: Case report [PDF]

, 2015
Wolfram syndrome is a rare neurodegenerative genetic disease, its prevalence is 1/700 000 cases. There are three known types. The first type is due to the mutation of WFS1 (4p16.1) gene.
Atipo-Tsiba, PW, Odzili, FAI
core   +1 more source

TREATMENT OF WOLFRAM SYNDROME-RELATED NEURODEGENERATION [PDF]

, 2014
Provided is a method of treating and/or preventing Wolfram Syndrome (WS)-related neurodegeneration (i.e. of Wolfram Syndrome-Associated Neuronal Degeneration), by increasing the expression and/or functional activity of p21.
Nagy, Zsuzsanna; id_orcid, Barrett, Timothy; id_orcid   +1 more
core   +2 more sources

Diabetes and Neurodegeneration in Wolfram Syndrome

, 2011
OBJECTIVE To describe the diabetes phenotype in Wolfram syndrome compared with type 1 diabetes, to investigate the effect of glycemic control on the neurodegenerative process, and to assess the genotype-phenotype ...
Thomas Meissner, Min Ae Lee-Kirsch, Christian Ehlers, Konrad Oexle, Edith Schober, Bärbel Wiedemann, Julia Rohayem, Olga Kordonouri, Giuseppina Salzano, Angela Huebner, null null, Walter Burger, Reinhard Holl, Wiedemann, B, SALZANO, Giuseppina, Oexle, K, Schober, E, Rohayem, J, Ehlers, C, The, Wolfram Syndrome Diabetes Writing Group, Meissner, T, Holl, R, Burger, W, Kordonouri, O, Huebner, A, Lee Kirsch, Ma   +25 more
core   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Nano Borophene as a Programmable 2D Scaffold for Organized DNA Assembly and Long‐Range Energy Transfer

Advanced Functional Materials, EarlyView.
Borophene is introduced as a programmable 2D bio‐interface that organizes DNA through dual boron–sulfur and nucleobase interactions. This molecular architecture enables efficient long‐range nanosurface energy transfer, establishing new design principles for functional nano–bio interfaces and amplification‐free optical biosensing.
Teresa Aditya, Pranay Saha, John M. Sansalone, Shraddha Krishnakumar, Matthew Molinaro, André J. van der Vlies, Nada Maher, Adrienne Griffiths, Zakhro Zakirova, Ketan Dighe, Narayana R. Aluru, Dipanjan Pan   +11 more
wiley   +1 more source

Evidence of retinal degeneration in Wolfram syndrome [PDF]

, 2018
Purpose: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype.
Peachey, Neal, Scaramuzzi, Matteo, Traboulsi, Elias I, Kumar, Priyanka, Nucci, Paolo   +4 more
core   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 more
wiley   +1 more source