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221 matching publication(s)

Publication	Journal	Year	Score	Verdict
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. PMID 24781758	—	2015	83	L1 83/100
Brown fat activation reduces hypercholesterolaemia and protects from atherosclerosis development PMID 25754609	—	2015	—	L1 No computation
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR. PMID 25178484	—	2014	—	L1 No computation
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm. PMID 24193348	European Journal of Human Genetics	2014	83	L1 83/100
Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant PMID 24529129	—	2014	—	L1 No computation
Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons. PMID 23406282	—	2013	—	L1 No computation
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. PMID 20890276	—	2010	96	96/100
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development. PMID 22821884	—	2012	88	L1 88/100
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome. PMID 23335589	—	2013	—	L1 No computation
Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits. PMID 21989057	—	2012	—	L1 No computation
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. PMID 20887964	—	2010	—	L1 No computation
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. PMID 17033964	—	2006	75	L1 75/100
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. PMID 18834967	—	2008	70	L1 70/100
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome. PMID 19035362	—	2009	—	L1 No computation
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. PMID 19995790	—	2010	—	L1 No computation
AlphaPIX and betaPIX and their role in focal adhesion formation. PMID 16337026	—	2006	—	L1 No computation
AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading. PMID 15611136	—	2005	—	L1 No computation
Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin. PMID 16122393	—	2005	—	L1 No computation
Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling. PMID 12499396	—	2003	—	L1 No computation
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci. PMID 23350639	Clinical genetics	2013	—	L1 No computation
nf-core/mag: a best-practice pipeline for metagenome hybrid assembly and binning. PMID 35118380	NAR Genom Bioinform	2022	100	L1 100/100