Associated Papers
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.
Pilz R et al.
Human Molecular Genetics, 2022
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D et al.
Nature Communications, 2021
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK et al.
Haematologica, 2019
The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.
Bursztejn AC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
Takeichi T et al.
The Journal of Investigative Dermatology, 2017
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
Boyden LM et al.
American Journal of Human Genetics, 2017
Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma.
Duan Y et al.
Indian Dermatology Online Journal, 0
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