LAMB3 gene mutations in a patient with herlitz junctional epidermolysis bullosa displaying immunoreactivity to laminin-5

1998 ◽  
Vol 16 ◽  
pp. S41
Author(s):  
P. Posteraro ◽  
M. El Hachem ◽  
S. Cicuzza ◽  
G. Meneguzzi ◽  
G. Zambruno ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Mutations ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease

2004 ◽  
Vol 116 (1-2) ◽  
pp. 33-42 ◽  
Author(s):  
Christiane M�hle ◽  
Qiu-Jie Jiang ◽  
Alexandra Charlesworth ◽  
Leena Bruckner-Tuderman ◽  
Guerrino Meneguzzi ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Molecular Basis ◽  
Clinical Course ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5 ◽  
Recurrent Mutations

A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

Genomics ◽  
1994 ◽  
Vol 24 (2) ◽  
pp. 357-360 ◽  
Author(s):  
Leena Pulkkinen ◽  
Angela M. Christiano ◽  
Donald Gerecke ◽  
D.Wolfe Wagman ◽  
Robert E. Burgeson ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Nonsense Mutation ◽  
Chain Gene ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5 ◽  
Homozygous Nonsense Mutation

A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa

2003 ◽  
Vol 309 (1) ◽  
pp. 96-103 ◽  
Author(s):  
Maria Scaturro ◽  
Patrizia Posteraro ◽  
Alessandro Mastrogiacomo ◽  
Maria Letizia Zaccaria ◽  
Naomi De Luca ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

2001 ◽  
Vol 110 (1) ◽  
pp. 41-51 ◽  
Author(s):  
Aoi Nakano ◽  
Sheau-Chiou Chao ◽  
Leena Pulkkinen ◽  
Dedee Murrell ◽  
Leena Bruckner-Tuderman ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Molecular Basis ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5

scholarly journals A method for Junctional Epidermolysis Bullosa diagnostication in draft horses

2008 ◽  
Vol 24 (1-2) ◽  
pp. 127-132 ◽  
Author(s):  
S. Georgescu ◽  
M. Manea ◽  
A. Dinischiotu ◽  
C. Tesio ◽  
M. Costache
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Polypeptide Chain ◽  
Genetic Test ◽  
Skin Lesions ◽  
Recessive Trait ◽  
Inherited Disease ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5 ◽  
Skin Loss

Junctional Epidermolysis Bullosa (JEB) is an inherited disease which causes skin lesions in newborn foals and results in large areas of skin loss. The mutation responsible for the disease is a cytosine insertion in the LAMC2 gene, which results in absent expression of the laminin ?2 polypeptide chain of laminin 5. JEB is inherited as an autosomal recessive trait (Spirito et al. 2002, Milenkovic et al. 2003, Spirito et al. 2002). Our objective was to develop an easy and efficient method for correctly identifying the normal homozygous and heterozygous carrier horses for the JEB trait. We analyzed a population of Romanian Draft Horses using a set of primers which amplify a fragment from the LAMC2 gene possibly containing the insertion. The number of allele peaks depends on whether the horse tested is a heterozygote (carrier) or homozygote (normal or JEB affected). Results suggest that the genetic test will be useful in identifying horses which are heterozygous for the JEB trait and foals with JEB.

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

2001 ◽  
Vol 117 (3) ◽  
pp. 731-739 ◽  
Author(s):  
Daniele Castiglia ◽  
Patrizia Posteraro ◽  
Mari Pinola ◽  
Giovanna Zambruno ◽  
Flavia Spirito ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutations ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5
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