Results 141 to 150 of about 45,424 (315)
Topics of Interest in Women With Myeloproliferative Neoplasms
American Journal of Hematology, EarlyView.Women with MPN: life‐cycle phases, specific risks, and influencing factors. ABSTRACT Overview Sex and gender have emerged as central modifiers of disease biology, phenotype, and clinical outcomes in myeloproliferative neoplasms (MPNs). This review will uniquely highlight issues affecting women with MPN and articulate their relevant determinants ...
Natasha Szuber +2 more
wiley +1 more source
The molecular genetics of RASopathies: An update on novel disease genes and new disorders
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022 Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia +2 more
wiley +1 more source
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies [PDF]
, 1975 Hildegard Przyrembel +6 more
openalex +1 more source
Clinical overview on RASopathies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022 Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022 Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung +14 more
wiley +1 more source
Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain
Heliyon, 2019 Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona +8 more
doaj
Genetical theory and the "inborn errors of metabolism". [PDF]
, 1970 H. Harris
openalex +1 more source
C1r deficiency: an inborn error associated with cutaneous and renal disease [PDF]
, 1972 N K Day +6 more
openalex +1 more source
Frequency-Adaptive Pan-Sharpening with Mixture of Experts [PDF]
arXivPan-sharpening involves reconstructing missing high-frequency information in multi-spectral images with low spatial resolution, using a higher-resolution panchromatic image as guidance. Although the inborn connection with frequency domain, existing pan-sharpening research has not almost investigated the potential solution upon frequency domain. To this
arxiv
Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. [PDF]
, 1974 N. J. Brandt +3 more
openalex +1 more source