Results 41 to 50 of about 695 (177)
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 +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 +3 more
wiley +1 more source
A woman with hyperpigmented macules and papules
, 2021 JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 19, Issue 11, Page 1656-1660, November 2021.
Viktor Schnabel +5 more
wiley +1 more source
Eine Frau mit hyperpigmentierten Maculae und Papeln
, 2021 JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 19, Issue 11, Page 1655-1659, November 2021.
Viktor Schnabel +5 more
wiley +1 more source
Dyschromatosis universalis hereditaria: report of six cases from a family [PDF]
, 2016 Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary disorder characterized by the presence of mottled hyperpigmented and hypopigmented macules over the trunk, extremities, and face.
Das, Anupam +2 more
core +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
An inventory of lysosomal ABC transporters
FEBS Letters, Volume 594, Issue 23, Page 3965-3985, December 2020., 2020 ABC transporters fulfill diverse physiological functions in different cellular localizations ranging from the plasma membrane to intracellular membranous compartments. Several ABC transporters have been spotted in the endolysosomal system, which consists of endosomes, autophagosomes, lysosomes, and lysosome‐related organelles.
Gergely Szakacs, Rupert Abele
wiley +1 more source
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
A rare association of dyschromatosis universalis hereditaria and bilateral corneal ulcer
Indian Journal of Ophthalmology. Case Reports, 2022 Dyschromatosis universalis hereditaria (DUH) is a rare entity in the Indian subcontinent presenting with generalized pigmented macule all over the body.
Mamta Singh +2 more
doaj +1 more source
Thrombocytopenia in dyschromatosis universalis hereditaria
Ceylon Medical Journal, 2012 Dyschromatosis universalis hereditaria (DUH) is an extremely rare genodermatosis, characterised by hyperand hypo-pigmented macules forming a reticulate pattern. We describe a patient with features of DUH.
S, Pirasath +2 more
openaire +3 more sources