Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications-Reference-Cited by-同舟云学术

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

Published:2017-12 Issue:12 Volume:137 Page:2649-2652
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Vahidnezhad Hassan,Youssefian Leila,Saeidian Amir Hossein,Touati Andrew,Sotoudeh Soheila,Abiri Maryam,Barzegar Mohammadreza,Aghazadeh Nessa,Mahmoudi Hamidreza,Norouz-zadeh Sara,Hamid Mohammad,Zahabiyon Mahla,Bagherian Hamideh,Zeinali Sirous,Fortina Paolo,Uitto Jouni

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference13 articles.

1. Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa;Atanasova;J Invest Dermatol,2017

2. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

3. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema;Gu;J Invest Dermatol,2003

4. The “Kelch” Surprise: KLHL24, a new player in the pathogenesis of skin fragility;Has;J Invest Dermatol,2017

5. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility;He;Am J Hum Genet,2016

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2. Next-generation sequencing in dermatology;Frontiers in Medicine;2023-09-29

3. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients;Orphanet Journal of Rare Diseases;2022-12-28

4. Mutation update: The spectra of PLEC sequence variants and related plectinopathies;Human Mutation;2022-07-29

5. First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate;BMC Medical Genomics;2022-06-18