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33 matching publication(s)

Publication	Journal	Year	Score	Verdict
Clinical and pathological characteristics of familial melanoma with germline <scp>TERT</scp> promoter variants PMID 35912549	—	2022	—	L1 No computation
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome. PMID 35764878	—	2022	—	L1 No computation
The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load. PMID 35688156	—	2022	—	L1 No computation
TFEB deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality PMID 33516944	Molecular Metabolism 47:101173	2021	—	L1 No computation
Brown adipose tissue lipoprotein and glucose disposal is not determined by thermogenesis in uncoupling protein 1-deficient mice PMID 32769145	—	2020	—	L1 No computation
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. PMID 32499600	—	2020	—	L1 No computation
PID1 regulates insulin-dependent glucose uptake by controlling intracellular sorting of GLUT4-storage vesicles PMID 30904610	—	2019	—	L1 No computation
Effects of Pharmacological Thermogenic Adipocyte Activation on Metabolism and Atherosclerotic Plaque Regression PMID 30813320	—	2019	—	L1 No computation
Intact innervation is essential for diet-induced recruitment of brown adipose tissue PMID 30576247	—	2018	—	L1 No computation
Lipolysis Triggers a Systemic Insulin Response Essential for Efficient Energy Replenishment of Activated Brown Adipose Tissue in Mice PMID 30033199	—	2018	—	L1 No computation
Course of HEV viremia and anti-HEV IgM/IgG response in asymptomatic blood donors PMID 29860111	—	2018	—	L1 No computation
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1. PMID 29734338	PLoS Genetics 14(5):e1007370	2018	—	L1 No computation
Thermogenic adipocytes promote HDL turnover and reverse cholesterol transport PMID 28422089	Nature Communications	2017	—	L1 No computation
The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. PMID 27843325	—	2016	—	L1 No computation
Implications of thermogenic adipose tissues for metabolic health PMID 27697210	—	2016	—	L1 No computation
FGF21 Lowers Plasma Triglycerides by Accelerating Lipoprotein Catabolism in White and Brown Adipose Tissues PMID 26853749	—	2016	—	L1 No computation
Genetic Dissection of Tissue-Specific Apolipoprotein E Function for Hypercholesterolemia and Diet-Induced Obesity PMID 26695075	PLoS ONE	2015	—	L1 No computation
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor. PMID 26177020	—	2015	—	L1 No computation
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. PMID 25914166	—	2015	—	L1 No computation
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
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
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
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