Pathogenic <i>DST</i> sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI)-Reference-Cited by-同舟云学术

Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI)

Published:2022-03-19 Issue:6 Volume:31 Page:949-955
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Experimental Dermatology

Author:

Khalesi Raziyeh¹,Harvey Nailah²³,Garshasbi Masoud⁴,Kalamati Elnaz⁵,Youssefian Leila²⁶,Vahidnezhad Hassan²⁶,Uitto Jouni²⁶^ORCID

Affiliation:

1. Department of Medical Genetics DeNA Laboratory Tehran Iran

2. Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University Philadelphia Pennsylvania USA

3. Philadelphia College of Osteopathic Medicine Philadelphia Pennsylvania USA

4. Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran

5. Obstetrics and Gynecology Department Imam Zaman Hospital Mashhad University of Medical Science Mashhad Iran

6. Jefferson Institute of Molecular Medicine Thomas Jefferson University Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/exd.14562

Reference18 articles.

1. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

2. Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

3. Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

4. Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

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1. Sensory-motor circuit is a therapeutic target for dystonia musculorum mice, a model of hereditary sensory and autonomic neuropathy 6;Science Advances;2024-07-26

2. The DST gene in neurobiology;Journal of Neurogenetics;2023-10-02

3. Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues;Anatomical Science International;2023-08-21

4. Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia;Cureus;2023-08-09

5. DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy;Clinical Genetics;2023-07-11