Novel Mutations in the LAMC2 Gene in Non-Herlitz Junctional Epidermolysis Bullosa: Effects on Laminin-5 Assembly, Secretion, and Deposition-Reference-Cited by-同舟云学术

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Novel Mutations in the LAMC2 Gene in Non-Herlitz Junctional Epidermolysis Bullosa: Effects on Laminin-5 Assembly, Secretion, and Deposition

Published:2001-09 Issue:3 Volume:117 Page:731-739
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Castiglia Daniele,Posteraro Patrizia,Pinola Mari,Zambruno Giovanna,Spirito Flavia,Angelo Corrado,Puddu Pietro,Meneguzzi Guerrino

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference50 articles.

1. Herlitz's junctional epidermolysis bullosa is genetically linked to mutations in the nicein/kalinin (laminin-5) LAMC2 gene;Aberdam;Nat Genet,1994

2. Structure of the human laminin γ2 chain gene (LAMC2): alternative splicing with different tissue distribution of two transcripts;Airenne;Genomics,1996

3. Bone morphogenetic protein 1 (BMP-1) is an extracellular processing enzyme of the laminin-5 γ2 chain;Amano;J Biol Chem,2000

4. Stabilization of the α-helical coiled-coil domain in laminin by C-terminal disulfide bonds;Antonsson;J Mol Biol,1995

5. Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression;Baudoin;J Clin Invest,1994

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1. Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate;The American Journal of Dermatopathology;2024-04-23

2. Chromosome-level Dinobdella ferox genome provided a molecular model for its specific parasitism;Parasites & Vectors;2023-09-11

3. Junctional epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-01-27

4. A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops;Genes;2021-05-11

5. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa;European Journal of Dermatology;2021-04

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