Associated Papers
Artificial intelligence and the analysis of cryo-EM data provide structural insight into the molecular mechanisms underlying LN-lamininopathies.
Kulczyk AW
Scientific Reports, 2023
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
Zevallos-Morales A et al.
Dermatology Online Journal, 2022
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
Gene Replacement Therapies for Genodermatoses: A Status Quo.
Koller U et al.
Frontiers in Genetics, 2021
Laminin Polymerization and Inherited Disease: Lessons From Genetics.
Shaw L et al.
Frontiers in Genetics, 2021
Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.
De Rosa L et al.
Frontiers in Genetics, 2021
Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa.
Mittwollen R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Splicing of the cake can affect the severity of epidermolysis bullosa.
Murrell DF et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.
Fortugno P et al.
International Journal of Molecular Sciences, 2020
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
Montaudié H et al.
Orphanet Journal of Rare Diseases, 2016
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.
Jiménez-Barrón LT et al.
Cold Spring Harbor Molecular Case Studies, 2015
Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.
Tenedini E et al.
The British Journal of Dermatology, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Successful therapeutic transplantation of revertant skin in epidermolysis bullosa.
Gostyński A et al.
Journal of the American Academy of Dermatology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
Pasmooij AM et al.
Discovery Medicine, 2012
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature.
Yuen WY et al.
Journal of the American Academy of Dermatology, 2011
Revertant mosaicism in skin: natural gene therapy.
Lai-Cheong JE et al.
Trends in Molecular Medicine, 2011
Molecular therapies for heritable blistering diseases.
Tamai K et al.
Trends in Molecular Medicine, 2009
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.
Castori M et al.
The British Journal of Dermatology, 2008
Biological function of laminin-5 and pathogenic impact of its deficiency.
Schneider H et al.
European Journal of Cell Biology, 2007
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.
Pasmooij AM et al.
The Journal of Clinical Investigation, 2007
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.
Mavilio F et al.
Nature Medicine, 2006
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Mühle C et al.
Human Genetics, 2005
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
Posteraro P et al.
The Journal of Investigative Dermatology, 2004
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Nakano A et al.
Human Genetics, 2002
Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency.
Guerriero C et al.
Dermatology (basel, Switzerland), 2001
Laminins and human disease.
McGowan KA et al.
Microscopy Research and Technique, 2000
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston MD et al.
American Journal of Human Genetics, 2000
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
Mellerio JE et al.
The British Journal of Dermatology, 1998
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.
Pulkkinen L et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 1998
Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.
Matsui C et al.
The Journal of Experimental Medicine, 1998
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.
Posteraro P et al.
Biochemical and Biophysical Research Communications, 1998
Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
McGarth JA et al.
The Journal of Investigative Dermatology, 1996
Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
Christiano AM et al.
The Journal of Investigative Dermatology, 1996
[Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families].
Ayoub N et al.
Annales De Dermatologie Et De Venereologie, 0
Laminin 332 in junctional epidermolysis bullosa.
Kiritsi D et al.
Cell Adhesion & Migration, 0