(PDF) 102 Proteins Causing Autosomal Congenital Recessive

102 Proteins Causing Autosomal Congenital Recessive Ichthyosis (ARCI) Colocalize in Differentiated Primary Keratinocytes and the Interactions Are Altered in Cells From Patients With TGM1 Mutations

Journal of Investigative Dermatology - United Kingdom

doi 10.1016/j.jid.2017.07.412

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October 1, 2017

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Elsevier BV

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Amanote Research

102 Proteins Causing Autosomal Congenital Recessive Ichthyosis (ARCI) Colocalize in Differentiated Primary Keratinocytes and the Interactions Are Altered in Cells From Patients With TGM1 Mutations

Journal of Investigative Dermatology - United Kingdom

doi 10.1016/j.jid.2017.07.412

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

379 KB105: An HSV-based Gene Therapy Vector Engineered to Deliver Functional TGM1 to Autosomal Recessive Congenital Ichthyosis (ARCI) Keratinocytes

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Patients With Congenital Ichthyosis and TGM1 Mutations Overexpress Other ARCI Genes in the Skin: Part of a Barrier Repair Response?

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA

Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts