Detalhe da pesquisa
1.
Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.
Hum Mol Genet
; 32(2): 304-318, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981076
2.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
J Am Soc Nephrol
; 34(2): 273-290, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414417
3.
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
PLoS Genet
; 14(5): e1007370, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29734338
4.
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Genet Med
; 21(8): 1832-1841, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675029
5.
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Clin Genet
; 96(1): 85-90, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31044419
6.
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
Neurogenetics
; 19(3): 151-156, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808465
7.
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
Hum Mol Genet
; 22(8): 1643-53, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335589
8.
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Am J Med Genet A
; 167A(9): 2085-97, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914166
9.
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.
Hum Mutat
; 35(11): 1372-81, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25178484
10.
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.
Hum Mol Genet
; 21(2): 268-86, 2012 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21989057
11.
Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons.
Eur J Neurosci
; 37(9): 1404-12, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23406282
12.
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Am J Hum Genet
; 87(4): 465-79, 2010 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20887964
13.
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.
Hum Mol Genet
; 19(5): 790-802, 2010 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19995790
14.
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.
Am J Med Genet A
; 158A(9): 2106-18, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821884
15.
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
Eur J Hum Genet
; 30(9): 1088-1093, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764878
16.
The focal adhesion protein ß-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load.
Curr Biol
; 32(14): 3033-3047.e9, 2022 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35688156
17.
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
Sci Rep
; 12(1): 4489, 2022 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35296718
18.
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Am J Hum Genet
; 83(4): 511-9, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18834967
19.
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
Eur J Hum Genet
; 28(11): 1548-1554, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499600
20.
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
J Neurol
; 267(9): 2533-2545, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367296