Identification of a founder mutation in KRT 14 associated with Naegeli–Franceschetti–Jadassohn syndrome-Reference-Cited by-同舟云学术

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Identification of a founder mutation in KRT 14 associated with Naegeli–Franceschetti–Jadassohn syndrome

Published:2020-05-26 Issue:4 Volume:183 Page:756-757
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br. J. Dermatol.

Author:

Ralser D.J.¹,Kumar S.¹,Borisov O.²,Sarig O.³,Richard G.⁴,Wolf S.¹,Krawitz P.M.²,Sprecher E.³⁵,Kreiß M.¹,Betz R.C.¹^ORCID

Affiliation:

1. Institute of Human Genetics University of Bonn, Faculty of Medicine and University Hospital Bonn Bonn Germany

2. Institute for Genomic Statistics and Bioinformatics University of Bonn Faculty of Medicine and University Hospital Bonn Bonn Germany

3. Department of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel

4. GeneDx Gaithersburg MD USA

5. Department of Human Molecular Genetics and Biochemistry Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.19123

Reference8 articles.

1. Naegeli–Franceschetti–Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT 14 frameshift variant

2. Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

3. KRT14 Haploinsufficiency Results in Increased Susceptibility of Keratinocytes to TNF-α-Induced Apoptosis and Causes Naegeli–Franceschetti–Jadassohn Syndrome

4. Inherited defects in keratins

5. A New Case of Keratin 14 Functional Knockout Causes Severe Recessive EBS and Questions the Haploinsufficiency Model of Naegeli–Franceschetti–Jadassohn Syndrome

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inherited Reticulate Pigmentary Disorders;Genes;2023-06-20

2. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex;International Journal of Molecular Sciences;2021-11-18

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