Shuichiro Yasuno

Ube, Japan

Last Updated: 09/26/2026

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Found 10 publications

A homozygous loss-of-function variant in the MPO gene is associated with generalized pustular psoriasis.

A homozygous loss-of-function variant in the MPO gene is associated with generalized pustular psoriasis.

Journal: The Journal of dermatology

Published: September 30, 2022

Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.

Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.

Journal: The Journal of dermatology

Published: August 15, 2022

Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.

Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.

Journal: The Journal of dermatology

Published: May 27, 2022

Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.

Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.

Journal: The Journal of dermatology

Published: January 24, 2021

Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I.

Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I.

Journal: The Journal of dermatology

Published: December 16, 2020

Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.

Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.

Journal: The Journal of dermatology

Published: April 15, 2019

Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals.

Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals.

Journal: The Journal of dermatology

Published: August 21, 2018

Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 gene.

Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 gene.

Journal: Clinical and experimental dermatology

Published: July 19, 2018

Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.

Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.

Journal: The Journal of dermatology

Published: July 06, 2018

Case of generalized pustular psoriasis that might have progressed from terbinafine-induced acute generalized exanthematous pustulosis.

Case of generalized pustular psoriasis that might have progressed from terbinafine-induced acute generalized exanthematous pustulosis.

Journal: The Journal of dermatology

Published: May 17, 2018

Showing 1-10 of 10

Last Updated: 09/26/2026