Associated Papers
Novel eRF3a degrader enhances gentamicin-induced premature termination codon readthrough in epidermolysis bullosa.
Miao KL et al.
Molecular Therapy. Nucleic Acids, 2025
Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.
Buianova AA et al.
International Journal of Molecular Sciences, 2025
Alterations in the microenvironment of junctional epidermolysis bullosa keratinocytes: A gene expression study.
Wang Y et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.
Levian B et al.
Molecular Therapy. Nucleic Acids, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.
Tan EC et al.
The Australasian Journal of Dermatology, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.
Smith CEL et al.
Journal of Dental Research, 2019
Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa.
Wang H et al.
Medicine, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
Yenamandra VK et al.
Journal of Dermatological Science, 2017
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.
Hammersen J et al.
The Journal of Investigative Dermatology, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 2016
Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.
Gostyńska KB et al.
European Journal of Human Genetics : Ejhg, 2016
Lack of association between the single nucleotide polymorphism of ST18 and pemphigus in Chinese population.
Yue Z et al.
The Journal of Dermatology, 2014
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
Yuen WY et al.
The British Journal of Dermatology, 2011
A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa.
Kouno M et al.
Clinical and Experimental Dermatology, 2011
Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa.
Fassihi H et al.
The British Journal of Dermatology, 2010
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.
Renwick P et al.
Reproductive Biomedicine Online, 2010
Herlitz junctional epidermolysis bullosa.
Laimer M et al.
Dermatologic Clinics, 2010
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
Abu Sa'd J et al.
The Journal of Investigative Dermatology, 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
Progress in epidermolysis bullosa: genetic classification and clinical implications.
Uitto J et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2004
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Nakano A et al.
Journal of the American Academy of Dermatology, 2002
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Nakano A et al.
Human Genetics, 2002
Laminins and human disease.
McGowan KA et al.
Microscopy Research and Technique, 2000
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa.
Cserhalmi-Friedman PB et al.
Experimental Dermatology, 2000
LAMB3 gene transfection into SV40-transformed keratinocytes from patient with Herlitz junctional epidermolysis bullosa.
Masunaga T et al.
Archives of Dermatological Research, 2000
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
Floeth M et al.
American Journal of Human Genetics, 1999
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Rouan F et al.
The Journal of Investigative Dermatology, 1998
Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
Takizawa Y et al.
The Journal of Investigative Dermatology, 1998
Are His63Asp or Cys282Tyr HFE mutations associated with porphyria cutanea tarda? Data of patients from central and southern Italy.
D'Amato M et al.
The Journal of Investigative Dermatology, 1998
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
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.
Takizawa Y et al.
The Journal of Investigative Dermatology, 1998
Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.
Matsui C et al.
The Journal of Experimental Medicine, 1998
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
Takizawa Y et al.
The Journal of Investigative Dermatology, 1998
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
Pulkkinen L et al.
The Journal of Investigative Dermatology, 1997
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation.
McMillan JR et al.
The British Journal of Dermatology, 1997
Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa.
Cserhalmi PB et al.
Experimental Dermatology, 1997
Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa.
Shimizu H et al.
Archives of Dermatological Research, 1997