Results 41 to 50 of about 434 (146)
International Journal of Genomics, Volume 2020, Issue 1, 2020., 2020 RNA editing is a posttranscriptional nucleotide modification in humans. Of the various types of RNA editing, the adenosine to inosine substitution is the most widespread in higher eukaryotes, which is mediated by the ADAR family enzymes. Inosine is recognized by the biological machinery as guanosine; therefore, editing could have substantial functional
Javad Behroozi +4 more
wiley +1 more source
Reticulate Pigmentary Disorders: a review
Pigment International, 2019 Reticulate pigmentary disorders include presentations with “net-like,” “sieve-like,” or “chicken wire” configuration of the skin lesions. Various congenital and acquired dermatoses, as well as few systemic diseases, are present with this pattern of skin ...
Surabhi Sinha, Anita Kulhari
doaj +1 more source
Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome. [PDF]
Pediatr Dermatol, 2023 AbstractA 6‐year‐old female with a history of Aicardi–Goutières syndrome (AGS) presented to dermatology clinic with hypopigmented and hyperpigmented macules and patches consistent with dyschromatosis symmetrica hereditaria (DSH). Previous genetic workup demonstrated a de novo, heterozygous mutation in the adenosine deaminase acting on RNA 1 (ADAR) gene.
Ahmed F, Do N, Vanderver AL, Treat JR.
europepmc +3 more sources
, 2021 [[abstract]]Psoriasis is a common and important inflammatory dermatosis with more than 80 susceptibility genes identified but rarely associated with pigmentary genodermatosis.
Weng, HY;Wu, RW;Chen, YT;Lin, YF;Liu, YM;Tsai, SF;Chang, CH
core +1 more source
Dyschromatosis universalis hereditaria: A rare case report
Journal of Mahatma Gandhi Institute of Medical Sciences, 2013 Dyschromatosis universalis hereditaria is an autosomal dominant disorder but may be recessive or sporadically inherited disorder, infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled ...
Esha Bisne, Sonia Jain, V B Shivkumar
doaj +1 more source
, 2023 BackgroundDyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic
Qian Ma (69668) +7 more
core +1 more source
Role of epigenetics and alterations in RNA metabolism in leukodystrophies
WIREs RNA, Volume 15, Issue 3, May/June 2024.Leukodystrophies are rare brain disorders affecting white matter, with a clinical diversity still to be explained. Beyond genetics, epigenetic factors like histone modifications, DNA methylation, and non‐coding RNA dysregulation, as well as aberrant RNA maturation, are emerging as crucial contributors to these disorders.
Federica Rey +8 more
wiley +1 more source
, 2006 Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that
Kono, Michihiro +23 more
core +1 more source
Dowling-Degos Disease: Case Report and Review of the Literature [PDF]
, 2010 Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Batycka-Baran, Aleksandra +3 more
core +1 more source
, 2023 BackgroundDyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic
Qian Ma (69668) +3 more
core +1 more source