Literature DB >> 27283507

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.

Hassan Vahidnezhad1, Leila Youssefian2, Amir Hossein Saeidian2, Nikoo Mozafari3, Mohammadreza Barzegar3, Soheila Sotoudeh4, Maryam Daneshpazhooh5, Anna Isaian6, Sirous Zeinali7, Jouni Uitto8.   

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Year:  2016        PMID： 27283507     DOI： 10.1016/j.jid.2016.05.106

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  4 in total

1.  Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Authors:  Leila Youssefian; Hassan Vahidnezhad; Amir Hossein Saeidian; Soheila Sotoudeh; Hamidreza Mahmoudi; Maryam Daneshpazhooh; Nessa Aghazadeh; Rebecca Adams; Alireza Ghanadan; Sirous Zeinali; Paolo Fortina; Jouni Uitto
Journal:  Eur J Hum Genet       Date:  2017-09-06       Impact factor: 4.246

Review 2.  Cell-Cell Junctions Organize Structural and Signaling Networks.

Authors:  Miguel A Garcia; W James Nelson; Natalie Chavez
Journal:  Cold Spring Harb Perspect Biol       Date:  2018-04-02       Impact factor: 10.005

Review 3.  Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Authors:  Monica-Cristina Pânzaru; Lavinia Caba; Laura Florea; Elena Emanuela Braha; Eusebiu Vlad Gorduza
Journal:  Diagnostics (Basel)       Date:  2022-05-27

Review 4.  Keratin Biomaterials in Skin Wound Healing, an Old Player in Modern Medicine: A Mini Review.

Authors:  Marek Konop; Mateusz Rybka; Adrian Drapała
Journal:  Pharmaceutics       Date:  2021-11-28       Impact factor: 6.321
  4 in total

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