congenital ichthyosis

نتایج جستجو برای: congenital ichthyosis

تعداد نتایج: 121782 فیلتر نتایج به سال:

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

Journal: :Human molecular genetics 2004

Caroline Lefèvre Bakar Bouadjar Aysen Karaduman Florence Jobard Safa Saker Meral Ozguc Mark Lathrop Jean-François Prud'homme Judith Fischer

We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ichthyosiform erythroderma with fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. A few patients presen...

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Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes

2014

Ya-Wen Chen Jehng-Kang Wang Fen-Pai Chou Bai-Yao Wu Hui-Chung Hsiao Han Chiu Zhonghong Xu Adrienne NH Baksh Galen Shi Malvika Kaul Robert Barndt Victoria K. Shanmugam Michael D. Johnson Chen-Yong Lin

Genetic defects in matriptase are linked to two congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (IFAH, OMIM 602400). Mouse models with matriptase deficiency indicate an involvement of matriptase in suprabasal keratinocytes in the maintenance of the epidermal barrier. In contrast...

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Functional study ofTGM1missense mutations in autosomal recessive congenital ichthyosis

Journal: :Experimental Dermatology 2016

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In this Issue: Rapid Categorization of Mild Types of Autosomal Recessive Congenital Ichthyosis Undergoing a Phenotypic Shift: Should it be Called “Pleomorphic Ichthyosis” or “Congenital Ichthyosis with Mild Scaling (CIMS)”?

Journal: :Acta Dermato Venereologica 2010

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes

Vitamin D: A New Promising Therapy for Congenital Ichthyosis

Novel mutations in the genesTGM1andALOXE3underlying autosomal recessive congenital ichthyosis

" Bilateral Ectropion in Lamellar Ichthyosis: A Rare Congenital Condition"

Successful experimental treatment of congenital ichthyosis in an infant

Congenital Recessive Ichthyosis Unlinked to Loci for Epidermal Transglutaminases

Mechanics of fish skin: A computational approach for bio-inspired flexible composites

Functional study ofTGM1missense mutations in autosomal recessive congenital ichthyosis

In this Issue: Rapid Categorization of Mild Types of Autosomal Recessive Congenital Ichthyosis Undergoing a Phenotypic Shift: Should it be Called “Pleomorphic Ichthyosis” or “Congenital Ichthyosis with Mild Scaling (CIMS)”?