Mingyang Lee

Beijing Key Laboratory Of Molecular Diagnosis On Dermatoses
Beijing, 100034, China

Last Updated: 09/26/2026

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Found 15 publications

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.

Journal: The British journal of dermatology

Published: August 19, 2022

A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation.

A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: April 17, 2022

A stepwise approach for the management of primary erythromelalgia: A prospective single-arm study.

A stepwise approach for the management of primary erythromelalgia: A prospective single-arm study.

Journal: Journal of the American Academy of Dermatology

Published: January 16, 2022

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.

Journal: The Journal of investigative dermatology

Published: December 23, 2021

Epidermolysis Bullosa Pruriginosa Treated With Baricitinib.

Epidermolysis Bullosa Pruriginosa Treated With Baricitinib.

Journal: JAMA dermatology

Published: September 01, 2021

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

Journal: American journal of human genetics

Published: January 22, 2020

Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.

Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.

Journal: The Journal of investigative dermatology

Published: November 04, 2019

Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.

Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.

Journal: Journal of dermatological science

Published: October 24, 2019

Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.

Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.

Journal: The Journal of investigative dermatology

Published: June 12, 2018

Semidominant Inheritance in Olmsted Syndrome.

Semidominant Inheritance in Olmsted Syndrome.

Journal: The Journal of investigative dermatology

Published: January 11, 2016

Oral Acyclovir and Intralesional Interferon Injections for Treatment of Giant Pyogenic Granuloma-Like Lesions in an Immunocompromised Patient With Human Orf.

Oral Acyclovir and Intralesional Interferon Injections for Treatment of Giant Pyogenic Granuloma-Like Lesions in an Immunocompromised Patient With Human Orf.

Journal: JAMA dermatology

Published: May 07, 2015

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Journal: Human molecular genetics

Published: August 30, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026