Literature DB >> 26743602

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Dharshini Sathishkumar1, Elizabeth Orrin2, Ana Terron-Kwiatkowski3, Fiona Browne4, Anna E Martinez5, Jemima E Mellerio2, Malobi Ogboli6, Susannah Hoey7, Linda Ozoemena8, Lu Liu8, David Baty3, John A McGrath9, Celia Moss6.   

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Year:  2015        PMID： 26743602     DOI： 10.1016/j.jid.2015.11.024

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


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  4 in total

1.  Spontaneous KRT5 Gene Mutation in Rhesus Macaques (Macaca mulatta): A Novel Nonhuman Primate Model of Epidermolysis Bullosa Simplex.

Authors:  Amanda L Johnson; Samuel M Peterson; Margaret M L Terry; Betsy Ferguson; Lois M Colgin; Anne D Lewis
Journal:  Vet Pathol       Date:  2020-02-25       Impact factor: 2.221

Review 2.  Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

Authors:  Nadezhda A Evtushenko; Arkadii K Beilin; Anastasiya V Kosykh; Ekaterina A Vorotelyak; Nadya G Gurskaya
Journal:  Int J Mol Sci       Date:  2021-11-18       Impact factor: 5.923

3.  Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.

Authors:  Pharuhad Pongmee; Sanchawan Wittayakornrerk; Ramrada Lekwuttikarn; Sasikarn Pakdeeto; Piangor Watcharakuldilok; Chatchay Prempunpong; Thipwimol Tim-Aroon; Chawintee Puttanapitak; Piyawan Wattanasoontornsakul; Thitiporn Junhasavasdikul; Parith Wongkittichote; Saisuda Noojarern; Duangrurdee Wattanasirichaigoon
Journal:  Front Genet       Date:  2022-04-01       Impact factor: 4.772

Review 4.  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
  4 in total

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