Complete Paternal Uniparental Isodisomy of Chromosome 1: A Novel Mechanism for Herlitz Junctional Epidermolysis Bullosa

Yasuko Takizawa, Leena Pulkkinen, Sheau‐Chiou Chao, +4

Journal of Investigative Dermatology

ChromatinNovel MechanismChromosome DynamicsCytogeneticsGenetics +7

Novel ITGB4 Mutations in a Patient with Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome and Altered Basement Membrane Zone Immunofluorescence for the α6β4 Integrin

Yasuko Takizawa, Hiroshi Shimizu, Takeji Nishikawa, +3

Journal of Investigative Dermatology

Signal TransductionNovel Itgb4 MutationsPathologyα6β4 IntegrinDermatology +3

Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa

Yasuko Takizawa, Leena Pulkkinen, Hiroshi Shimizu, +4

Journal of Investigative Dermatology

TheriogenologyDevelopmental BiologyCytogeneticsGeneticsChromosome Biology +10

Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests

Yasuko Takizawa, Hiroshi Shimizu, Takeji Nishikawa, +5

Journal of Investigative Dermatology

MedicineGeneticsPathologyMolecular GeneticsDisease Gene Identification +4

Novel Mutations in the LAMB3 Gene Shared by Two Japanese Unrelated Families with Herlitz Junctional Epidermolysis Bullosa, and Their Application for Prenatal Testing

Yasuko Takizawa, Hiroshi Shimizu, Leena Pulkkinen, +6

Journal of Investigative Dermatology

Genetic DisorderGeneticsNovel MutationsPathologyJapanese Unrelated Families +4

The 97 kDa Linear IgA Bullous Dermatosis Antigen is not Expressed in a Patient with Generalized Atrophic Benign Epidermolysis Bullosa with a Novel Homozygous G258X Mutation in COL17A1

Hiroshi Shimizu, Yasuko Takizawa, Leena Pulkkinen, +5

Journal of Investigative Dermatology

Autoimmune DiseasePathologyClinical DermatologyAutoimmunityDermatology +2

DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings

Y. Tsuji-Abe, Masashi Akiyama, Hideki Nakamura, +5

Journal of the American Academy of Dermatology

Developmental BiologyGeneticsMaternal HealthPrenatal DiagnosisMaternal-fetal Medicine +7

Pyloric atresia‐junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin β4 gene (ITGB4)

Takuji Masunaga, Akira Ishiko, Yasuko Takizawa, +4

Experimental Dermatology

A Novel Asparagine→Aspartic Acid Mutation in the Rod 1A Domain in Keratin 2e in a Japanese Family with Ichthyosis Bullosa of Siemens

Yasuko Takizawa, Hiroshi Shimizu, Masashi Akiyama, +1

Journal of Investigative Dermatology

BiologyIchthyosis BullosaRod 1AJapanese FamilyGenetics +5

Compound Heterozygosity for a Point Mutation and a Deletion Located at Splice Acceptor Sites in the LAMB3 Gene Leads to Generalized Atrophic Benign Epidermolysis Bullosa

Yasuko Takizawa, Yoshiki Hiraoka, H. Takahashi, +6

Journal of Investigative Dermatology

Genetic DisorderGeneticsPathologyPoint MutationMolecular Genetics +6