Literature DB >> 28940199

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

S K Bublitz1, B Alhaddad2, M Synofzik3, V Kuhl4, A Lindner4, C Freiberg5, H Schmidt6, T M Strom7, T B Haack2, M Deschauer1.   

Abstract

Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration).
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28940199     DOI： 10.1111/cge.13069

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Quantitative Proteomics and Weighted Correlation Network Analysis of Tear Samples in Adults and Children With Diabetes and Dry Eye.

Authors:  Xinrong Zou; Shanshan Wang; Pei Zhang; Lina Lu; Haidong Zou
Journal:  Transl Vis Sci Technol       Date:  2020-12-04       Impact factor: 3.283

2.  Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy.

Authors:  Saud Alwatban; Haifa Alfaraidi; Abdulaziz Alosaimi; Iram Alluhaydan; Majid Alfadhel; Michel Polak; Angham Almutair
Journal:  Front Endocrinol (Lausanne)       Date:  2021-09-24       Impact factor: 5.555

Review 3.  Lipid Dyshomeostasis and Inherited Cerebellar Ataxia.

Authors:  Jin Zhao; Huan Zhang; Xueyu Fan; Xue Yu; Jisen Huai
Journal:  Mol Neurobiol       Date:  2022-04-14       Impact factor: 5.682

4.  Reduced DNAJC3 Expression Affects Protein Translocation across the ER Membrane and Attenuates the Down-Modulating Effect of the Translocation Inhibitor Cyclotriazadisulfonamide.

Authors:  Eva Pauwels; Becky Provinciael; Anita Camps; Enno Hartmann; Kurt Vermeire
Journal:  Int J Mol Sci       Date:  2022-01-06       Impact factor: 5.923

5.  Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3.

Authors:  Matthew J Jennings; Denisa Hathazi; Chi D L Nguyen; Benjamin Munro; Ute Münchberg; Robert Ahrends; Annette Schenck; Ilse Eidhof; Erik Freier; Matthis Synofzik; Rita Horvath; Andreas Roos
Journal:  Front Cell Dev Biol       Date:  2021-10-06

6.  Monogenic and syndromic diabetes due to endoplasmic reticulum stress.

Authors:  Stephen I Stone; Damien Abreu; Janet B McGill; Fumihiko Urano
Journal:  J Diabetes Complications       Date:  2020-05-08       Impact factor: 2.852
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.