Results 41 to 50 of about 737 (163)
Periventricular heterotopia in a male child with USP9X missense variant
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1350-1354, May 2023., 2023 Abstract The ubiquitin‐specific protease USP9X has been found to play a role in multiple aspects of neural development including processes of neuronal migrations. In males, hemizygous partial loss of function variants in USP9X lead to a clinical phenotype primarily characterized by intellectual disability, hypotonia, speech and language impairment ...
Arianna De Laurentiis +6 more
wiley +1 more source
Advanced Science, Volume 10, Issue 12, April 26, 2023., 2023 It is reported that a tRNA‐modifying methylthiotransferase CDKAL1 promotes cancer stem‐like cells (CSC)‐factor SALL2 synthesis by assembling the eIF4F translation initiation complex. CDKAL1 expression is upregulated in patients with worse prognoses and is essential for maintaining CSCs in rhabdomyosarcoma (RMS) and common cancers.
Rongsheng Huang +7 more
wiley +1 more source
IKAP: A heuristic framework for inference of kinase activities from Phosphoproteomics data [PDF]
Bioinformatics, 2015 Abstract Motivation: Phosphoproteomics measurements are widely applied in cellular biology to detect changes in signalling dynamics. However, due to the inherent complexity of phosphorylation patterns and the lack of knowledge on how phosphorylations are related to functions, it is often not possible to directly deduce protein activities
Marcel Mischnik +8 more
openaire +4 more sources
CDK6 activity in a recurring convergent kinase network motif
The FASEB Journal, Volume 37, Issue 4, April 2023., 2023 Gangemi et al. explored the complex relationships of human kinases and their substrates (top) using a combination of bioinformatics (bottom left) and cell‐based assays (bottom right). They focused on understanding convergent local network motifs in which more than one kinase phosphorylates the same substrate or the same site on a substrate.
Christina G Gangemi +2 more
wiley +1 more source
IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia [PDF]
Human Molecular Genetics, 2012 Hereditary sensory and autonomic neuropathies (HSANs) encompass a group of genetically inherited disorders characterized by sensory and autonomic dysfunctions. Familial dysautonomia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in the Ashkenazi Jewish population.
Paula, Dietrich +3 more
openaire +2 more sources
Immunological Reviews, Volume 314, Issue 1, Page 250-279, March 2023., 2023 Summary Research on tumor‐associated neutrophils (TAN) currently surges because of the well‐documented strong clinical relevance of tumor‐infiltrating neutrophils. This relevance is illustrated by strong correlations between high frequencies of intratumoral neutrophils and poor outcome in the majority of human cancers.
Benedict Boateng Antuamwine +6 more
wiley +1 more source
Computational Analysis of Phosphoproteomics Data in Multi‐Omics Cancer Studies
PROTEOMICS, Volume 21, Issue 3-4, February 2021., 2021 Abstract Multiple types of molecular data for the same set of clinical samples are increasingly available and may be analyzed jointly in an integrative analysis to maximize comprehensive biological insight. This analysis is important as separate analyses of individual omics data types usually do not fully explain disease phenotypes.
Giulia Mantini +3 more
wiley +1 more source
Medicinal Research Reviews, Volume 41, Issue 1, Page 586-615, January 2021., 2021 Abstract Since its discovery, alternative splicing has been recognized as a powerful way for a cell to amplify the genetic information and for a living organism to adapt, evolve, and survive. We now know that a very high number of genes are regulated by alternative splicing and that alterations of splicing have been observed in different types of human
Ilenia Pellarin +2 more
wiley +1 more source
The Plant Journal, Volume 104, Issue 2, Page 351-364, October 2020., 2020 SUMMARY The Elongator complex, which is conserved in eukaryotes, has multiple roles in diverse organisms. In Arabidopsis thaliana, Elongator is shown to be involved in development, hormone action and environmental responses. However, except for Arabidopsis, our knowledge of its function is poor in plants.
Hikari Matsumoto +10 more
wiley +1 more source
Stem Cell Research, 2021 Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator complex
Lior Dor +5 more
doaj +1 more source