Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis-Reference-Cited by-同舟云学术

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

Published:2015-08-22 Issue:5 Volume:173 Page:1291-1294
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Pohler E.¹,Cunningham F.²,Sandilands A.¹,Cole C.³,Digby S.⁴,McMillan J.R.⁵,Aristodemou S.⁵,McGrath J.A.⁶,Smith F.J.D.¹,McLean W.H.I.¹,Munro C.S.⁷,Zamiri M.²⁷

Affiliation:

1. Centre for Dermatology and Genetic Medicine; Colleges of Life Sciences and Medicine, Dentistry and Nursing; University of Dundee; U.K.

2. Department of Dermatology; University Hospital Crosshouse; Kilmarnock Road Kilmarnock KA2 0BE U.K.

3. Division of Computational Biology; College of Life Sciences; University of Dundee; U.K.

4. Department of Pathology; Southern General Hospital; Glasgow U.K.

5. EB Laboratory; Viapath LLP; St Thomas' Hospital; London Group; King's College London (Guy's Campus); London U.K.

6. Department of Cell Pathology; St John's Institute of Dermatology; St. Thomas' Hospital; London U.K.

7. Alan Lyell Centre for Dermatology; Southern General Hospital; Glasgow U.K.

Funder

Wellcome Trust Strategic Award

Wellcome Trust Programme

Pachyonychia Congenita Project

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.13895/fullpdf

Reference15 articles.

1. Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin;Camisa;Arch Dermatol,1984

2. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome;Maestrini;Nat Genet,1996

3. Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma;Ishida-Yamamoto;J Invest Dermatol.,2000

4. Collodion baby and loricrin keratoderma: a case report and mutation analysis;Yeh;Clin Exp Dermatol,2013

5. Two novel mutations in the LOR gene in three families with loricrin keratoderma;Hotz;Br J Dermatol,2014

Cited by 16 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. Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis);The Journal of Dermatology;2022-06-03

2. The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree;Journal of Dermatological Science;2022-04

3. Exploring Pseudoainhum in Camisa syndrome;Clinical Case Reports;2021-10

4. Ex Vivo Live Full-Thickness Porcine Skin Model as a Versatile In Vitro Testing Method for Skin Barrier Research;International Journal of Molecular Sciences;2021-01-11

5. Loricrin keratoderma: description of a novel mutation, systematic review and meta‐analysis between genotypic and phenotypic features;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2020-08-24