Results 31 to 40 of about 434 (146)

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene. [PDF]

BMC Med Genet, 2016
Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene.
Zhang G, Shao M, Li Z, Gu Y, Du X, Wang X, Li M.   +6 more
europepmc   +2 more sources

Acropigmentation of DohiA Rare Presentation [PDF]

Journal of Clinical and Diagnostic Research, 2021
Reticulate Acropigmentation of Dohi or Dyschromatosis symmetrica hereditaria, is an autosomal dominant genodermatosis, with very few reported autosomal recessive traits mostly seen in the Japanese population.
SAMIKSHA DEEPAK CHAVHAN, SUGAT JAWADE, BHUSHAN MADKE, ADARSHLATA SINGH   +3 more
doaj   +1 more source

Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. [PDF]

Am J Hum Genet, 2003
Dyschromatosis symmetrica hereditaria (DSH) (also called “reticulate acropigmentation of Dohi”) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the ...
Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y.   +6 more
europepmc   +2 more sources

Inherited Reticulate Pigmentary Disorders. [PDF]

Genes (Basel), 2023
Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules.
Lin MH, Chou PC, Lee IC, Yang SF, Yu HS, Yu S.   +5 more
europepmc   +2 more sources

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria

Journal of Clinical Laboratory Analysis, Volume 35, Issue 6, June 2021., 2021
Genetic screening revealed a heterozygous SASH1 c.1547G>A (p.Ser516Asn) mutation for patients in family 1, and SASH1 c.1547G>T (p.Ser516Ile) for family 2. Both such de novo mutations are located in a highly conserved SLY domain in SASH1, have not been previously reported in any publication, and were not detected in any control databases.
Jia‐Wei Liu, Xiaerbati Habulieti, Rong‐rong Wang, Dong‐Lai Ma, Xue Zhang   +4 more
wiley   +1 more source

The emerging and diverse roles of the SLy/SASH1‐protein family in health and disease—Overview of three multifunctional proteins

The FASEB Journal, Volume 35, Issue 4, April 2021., 2021
Abstract Intracellular adaptor proteins are indispensable for the transduction of receptor‐derived signals, as they recruit and connect essential downstream effectors. The SLy/SASH1‐adaptor family comprises three highly homologous proteins, all of them sharing conserved structural motifs. The initial characterization of the first member SLy1/SASH3 (SH3
Jennifer Jaufmann, Fabian Christoph Franke, Andreas Sperlich, Carolin Blumendeller, Isabel Kloos, Barbara Schneider, Daisuke Sasaki, Klaus‐Peter Janssen, Sandra Beer‐Hammer   +8 more
wiley   +1 more source

Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders

Journal of Ophthalmology, Volume 2021, Issue 1, 2021., 2021
Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and adaptive immune system present an avenue to study more common inflammatory disorders and host‐pathogen interactions. Many of these Mendelian disorders have ophthalmic manifestations.
Jasmine Y. Serpen, Stephen T. Armenti, Lev Prasov, Biju B. Thomas   +3 more
wiley   +1 more source

A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. [PDF]

Am J Hum Genet, 2003
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on extremities and face.
Xing QH, Wang MT, Chen XD, Feng GY, Ji HY, Yang JD, Gao JJ, Qin W, Qian XQ, Wu SN, He L.   +10 more
europepmc   +2 more sources

Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. [PDF]

BMC Med Genet, 2014
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNA-specific adenosine deaminase. The purpose of this study was to investigate the potential mutations in ADAR1 in seven Chinese families with DSH.All the coding exons including ...
Liu Q, Wang Z, Wu Y, Cao L, Tang Q, Xing X, Ma H, Zhang S, Luo Y.   +8 more
europepmc   +4 more sources

Dermatopathia pigmentosa reticularis: through the eye of dermoscope

Pigment International, 2023
Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia characterized by a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 22-year-old male with characteristic features of
Aditi Bansal, Navneet Kaur, Aminder Singh, Sukhjot Kaur   +3 more
doaj   +1 more source