Zobrazeno 1 - 10
of 856
pro vyhledávání: '"Wfs1"'
Autor:
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Rulai Han, Lei Ye, Yifei Zhang, Jie Hong, Weiqing Wang, Guang Ning, Weiqiong Gu
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as di
Externí odkaz:
https://doaj.org/article/ce5c793a14e54f4d9c3dc7a832237736
Akademický článek
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Autor:
Danyang Du, Aihemaitijiang Tuhuti, Yanrong Ma, Munila Abuduniyimu, Suli Li, Guoying Ma, Jazyra Zynat, Yanying Guo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main feature
Externí odkaz:
https://doaj.org/article/409f2af6c2624686b6e701cc8648f312
Publikováno v:
Guoji Yanke Zazhi, Vol 23, Iss 11, Pp 1930-1934 (2023)
AIM: To investigate the clinical features and genetic background of autosomal recessive Wolfram syndrome caused by WFS1 gene mutation.METHODS: A pedigree with autosomal recessive Wolfram syndrome was studied by clinical examination, gene analysis and
Externí odkaz:
https://doaj.org/article/b63f8a17a25c4e1a8397e8459297e5f9
Publikováno v:
Genes, Vol 15, Iss 8, p 984 (2024)
Wolfram syndrome 1 (WS1) is an uncommon autosomal recessive neurological disorder that is characterized by diabetes insipidus, early-onset non-autoimmune diabetes mellitus, optic atrophy, and deafness (DIDMOAD). Other clinical manifestations are neur
Externí odkaz:
https://doaj.org/article/4a8cd8e946d540a18743af17fa462529
Autor:
Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani
Publikováno v:
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023)
Abstract Background Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Sympt
Externí odkaz:
https://doaj.org/article/cd5ca4b1105145bfab11db6f3f87770a
Publikováno v:
FEBS Open Bio, Vol 13, Iss 8, Pp 1405-1414 (2023)
Wolfram syndrome is a monogenic disease mainly caused by mutations in the WFS1 gene. Mutations in the WFS1 gene give rise to diabetes. Here, we characterized mutant WFS1 proteins by studying the stability of full‐length wild‐type (WT) WFS1, a mis
Externí odkaz:
https://doaj.org/article/50d1e9465cc64119b0b5f9c148a15311
Akademický článek
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Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 62, Iss 3, Pp 440-443 (2023)
Objective: Wolfram Syndrome (WS) is a rare autosomal recessive neurodegenerative disorder caused by mutations in WFS1 or CISD2 (WFS2). We present a rare case report of pregnancy with WFS1 spectrum disorder (WFS1-SD) in our hospital and reviewed liter
Externí odkaz:
https://doaj.org/article/ed7a854d48b9426d8444de80058f68fc
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-16 (2023)
Abstract Background Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndro
Externí odkaz:
https://doaj.org/article/8a790b9fabc94646ba6638964b516729