Associated Papers
Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
Ali FM et al.
Bmc Pediatrics, 2024
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D et al.
Plos One, 2023
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT et al.
Orphanet Journal of Rare Diseases, 2022
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.
Wang R et al.
Frontiers of Medicine, 2022
Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Hong SA et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2022
Generation of a recessive dystrophic epidermolysis bullosa mouse model with patient-derived compound heterozygous mutations.
Takaki S et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022
A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa.
Cheng P et al.
Postepy Dermatologii I Alergologii, 2022
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Y et al.
Acta Dermato-venereologica, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen F et al.
Clinical Genetics, 2020
A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.
Jin L et al.
Journal of Cosmetic Dermatology, 2020
A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.
Hamidi AK et al.
Iranian Journal of Basic Medical Sciences, 2016
Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with recessive dystrophic epidermolysis bullosa (RDEB) carrying two compound heterozygous mutations in the COL7A1 gene.
Itoh M et al.
Stem Cell Research, 2016
Dystrophic epidermolysis bullosa: a review.
Shinkuma S
Clinical, Cosmetic and Investigational Dermatology, 2015
Long-term follow-up of cultured epidermal autograft in a patient with recessive dystrophic epidermolysis bullosa.
Shinkuma S et al.
Acta Dermato-venereologica, 2014
Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
Koshida S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2013
Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.
Makino E et al.
Journal of Dermatological Science, 2012
The course of pregnancy and childbirth in three mothers with recessive dystrophic epidermolysis bullosa.
Hanafusa T et al.
Clinical and Experimental Dermatology, 2012
Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient.
Cho JW et al.
Journal of Korean Medical Science, 2009
Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.
Saito M et al.
Journal of Dermatological Science, 2008
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Significance of sentinel node biopsy in the management of squamous cell carcinoma arising from recessive dystrophic epidermolysis bullosa.
Rokunohe A et al.
The Journal of Dermatology, 2008
Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings.
Hamada T et al.
Journal of Dermatological Science, 2008
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
Oh SW et al.
The British Journal of Dermatology, 2007
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R et al.
Journal of Medical Genetics, 2007
Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.
Yonei N et al.
The Journal of Dermatology, 2006
A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.
Suzuki S et al.
The British Journal of Dermatology, 2006
Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype.
Shibusawa Y et al.
International Journal of Dermatology, 2006
High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
Csikós M et al.
The British Journal of Dermatology, 2005
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.
Sawamura D et al.
Journal of Human Genetics, 2005
Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
Ishiko A et al.
Experimental Dermatology, 2004
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
Murata T et al.
Archives of Dermatological Research, 2004
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Gardella R et al.
The Journal of Investigative Dermatology, 2002
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.
Tamai K et al.
The Journal of Investigative Dermatology, 1999
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A et al.
Human Mutation, 1997
Successful Use of Upadacitinib in Treating a Child With Epidermolysis Bullosa Pruriginosa: A Case Report and Literature Review.
Wu X et al.
Pediatric Dermatology, 0