Digenic inheritance in epidermolysis bullosa simplex.

Padalon-Brauch G; Ben Amitai D; Vodo D; Harel A; Sarig O; Sprecher E; Mashiah J

doi:10.1038/jid.2012.229

Digenic inheritance in epidermolysis bullosa simplex.

Vodo D ,

The Journal of Investigative Dermatology, 26 Jul 2012, 132(12):2852-2854
https://doi.org/10.1038/jid.2012.229 PMID: 22832485

Abstract

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References

Articles referenced by this article (26)

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
Abu Sa'd J, Indelman M, Pfendner E, Falik-Zaccai TC, Mizrachi-Koren M, Shalev S, Ben Amitai D, Raas-Rothshild A, Adir-Shani A, Borochowitz ZU, Gershoni-Baruch R, Khayat M, Landau D, Richard G, Bergman R, Uitto J, Kanaan M, Sprecher E
J Invest Dermatol, (4):777-781 2006
MED: 16439963
Beyond Mendel: an evolving view of human genetic disease transmission.
Badano JL, Katsanis N
Nat Rev Genet, (10):779-789 2002
MED: 12360236
The cornified envelope: a model of cell death in the skin.
Candi E, Schmidt R, Melino G
Nat Rev Mol Cell Biol, (4):328-340 2005
MED: 15803139
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.
Chamcheu JC, Virtanen M, Navsaria H, Bowden PE, Vahlquist A, Torma H
Br J Dermatol, (5):980-989 2010
MED: 20128788
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E
Arch Dermatol, (4):498-505 2003
MED: 12707098
Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.
Coulombe PA, Kerns ML, Fuchs E
J Clin Invest, (7):1784-1793 2009
MED: 19587453
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
Floeth M, Bruckner-Tuderman L
Am J Hum Genet, (6):1530-1537 1999
MED: 10577906
Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.
Glasz-Bona A, Medvecz M, Sajo R, Lepesi-Benko R, Tulassay Z, Katona M, Hatvani Z, Blazsek A, Karpati S
J Invest Dermatol, (1):229-231 2008
MED: 18704110
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA
J Invest Dermatol, (6):1551-1557 2010
MED: 20164846
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.
Gu LH, Kim SC, Ichiki Y, Park J, Nagai M, Kitajima Y
J Invest Dermatol, (3):482-485 2003
MED: 12925204

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PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family.
Riahi K, Ghanbari Mardasi F, Talebi F, Jasemi F, Mohammadi Asl J
Cell J, 23(5):598-602, 30 Oct 2021
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Gene editing in dermatology: Harnessing CRISPR for the treatment of cutaneous disease.
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Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J
Hum Mutat, 39(10):1349-1354, 03 Aug 2018
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Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.
Kim E, Harris A, Hyland V, Murrell DF
Br J Dermatol, 177(1):262-264, 07 Jun 2017
Cited by: 2 articles | PMID: 27611893
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.
Eytan O, Fuchs-Telem D, Mevorach B, Indelman M, Bergman R, Sarig O, Goldberg I, Adir N, Sprecher E
J Invest Dermatol, 134(6):1752-1754, 24 Jan 2014
Cited by: 28 articles | PMID: 24463422

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Proteins in UniProt (Showing 5 of 6)

Keratin, type II cytoskeletal 5(UniProt - B4E1T1)
Keratin(UniProt - Q9UEK9)
Keratin, type II cytoskeletal 5(UniProt - P13647)
IF rod domain-containing protein(UniProt - Q13092)
IF rod domain-containing protein(UniProt - B4DL32)

Go to all (6) records in UniProt

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Digenic inheritance in epidermolysis bullosa simplex.

Abstract

Full text links

References

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

Beyond Mendel: an evolving view of human genetic disease transmission.

The cornified envelope: a model of cell death in the skin.

Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.

Citations & impact

Impact metrics

Citations of article over time

Alternative metrics

Smart citations by scite.ai
Explore citation contexts and check if this article has been supported or disputed.
https://scite.ai/reports/10.1038/jid.2012.229

Article citations

PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family.

Gene editing in dermatology: Harnessing CRISPR for the treatment of cutaneous disease.

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

Data

Data that cites the article

Proteins in UniProt (Showing 5 of 6)

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