Literature DB >> 32700054

Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family.

Hongjun Deng1, Jiaoyue Zhang1, Feng Zhu2, Xiuling Deng1, Li Yuan3.   

Abstract

Entities:  

Year:  2020        PMID： 32700054     DOI： 10.1007/s00592-020-01572-y

Source DB:  PubMed          Journal:  Acta Diabetol        ISSN： 0940-5429            Impact factor:   4.280


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  5 in total

1.  Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.

Authors:  Laina Lusk; Emily Black; Jaime Vengoechea
Journal:  J Med Genet       Date:  2019-07-30       Impact factor: 6.318

Review 2.  The role of the carboxyl ester lipase (CEL) gene in pancreatic disease.

Authors:  Bente B Johansson; Karianne Fjeld; Khadija El Jellas; Anny Gravdal; Monica Dalva; Erling Tjora; Helge Ræder; Rohit N Kulkarni; Stefan Johansson; Pål R Njølstad; Anders Molven
Journal:  Pancreatology       Date:  2017-12-05       Impact factor: 3.996

Review 3.  Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Authors:  Kim Cryns; Theru A Sivakumaran; Jody M W Van den Ouweland; Ronald J E Pennings; Cor W R J Cremers; Kris Flothmann; Terry-Lynn Young; Richard J H Smith; Marci M Lesperance; Guy Van Camp
Journal:  Hum Mutat       Date:  2003-10       Impact factor: 4.878

4.  A soluble endoplasmic reticulum factor as regenerative therapy for Wolfram syndrome.

Authors:  Jana Mahadevan; Shuntaro Morikawa; Takuya Yagi; Damien Abreu; Simin Lu; Kohsuke Kanekura; Cris M Brown; Fumihiko Urano
Journal:  Lab Invest       Date:  2020-05-04       Impact factor: 5.662

5.  A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.

Authors:  Dagmar Prochazkova; Zuzana Hruba; Petra Konecna; Jarmila Skotakova; Lenka Fajkusova
Journal:  J Clin Res Pediatr Endocrinol       Date:  2016-05-23
  5 in total

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