Zobrazeno 1 - 10
of 885
pro vyhledávání: '"Wfs1"'
Autor:
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. W
Externí odkaz:
https://doaj.org/article/0c0b6eba7aa84c6fa61212f9ff5202a8
Autor:
Mengting Gong, Yulin Fang, Kaijiang Yang, Fei Yuan, Rui Hu, Yajuan Su, Yiling Yang, Wenjun Xu, Qing Ma, Jiaxue Cha, Ru Zhang, Zhen‐Ning Zhang, Weida Li
Publikováno v:
Advanced Science, Vol 11, Iss 41, Pp n/a-n/a (2024)
Abstract Obesity, a growing global health concern, is closely linked to depression. However, the neural mechanism of association between obesity and depression remains poorly understood. In this study, neural‐specific WFS1 deficiency exacerbates th
Externí odkaz:
https://doaj.org/article/7f82db8142a3446586146e23f15dfeec
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundDiabetes is associated with the incidence and prognosis of various malignancies, most notably endometrial cancer (EC). This study investigated the connection between diabetes and EC, with a specific focus on elucidating the biological impli
Externí odkaz:
https://doaj.org/article/9ce679a1a23f428c8a42b54f00c1780c
Autor:
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
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 68 (2024)
ABSTRACT 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 s
Externí odkaz:
https://doaj.org/article/cbf3da5adedf4723adfdf888d2ce1a13
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
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
Akademický článek
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Akademický článek
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Autor:
Valerio Caruso, Luciana Rigoli
Publikováno v:
Biomolecules, Vol 14, Iss 11, p 1389 (2024)
The WFS1 gene was first identified in Wolfram Syndrome 1 (WS1), a rare autosomal recessive genetic disorder characterized by severe and progressive neurodegenerative changes. WFS1’s role in various cellular mechanisms, particularly in calcium homeo
Externí odkaz:
https://doaj.org/article/b2317c82db3840fa9e92ead7d50afc71