Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac188
Abstract: Heterozygous germline missense variants in the HRAS gene underlie Costello syndrome (CS). The molecular basis for cutaneous manifestations in CS is largely unknown. We used an immortalized human cell line, HaCaT keratinocytes, stably expressing wild-type… read more here.
Keywords: manifestations costello; integrin; syndrome hras; costello syndrome ... See more keywords
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000165
Abstract: Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is… read more here.
Keywords: patients costello; pathogenic variant; polish patients; novel pathogenic ... See more keywords
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12980
Abstract: Costello syndrome (CS) is caused by heterozygous germline HRAS mutations. Most patients share the HRAS mutation c.34G>A (p.Gly12Ser) associated with the typical, relatively homogeneous phenotype. Rarer mutations occurred in individuals with an attenuated phenotype. Although… read more here.
Keywords: mutation; mutation 179g; attenuated phenotype; hras mutation ... See more keywords
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making
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DOI: 10.1111/cge.14111
Abstract: Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in HRAS proto‐oncogene. Somatic HRAS mutations drive bladder carcinogenesis. The aim of this study was to… read more here.
Keywords: bladder; costello syndrome; prevalence bladder; bladder cancer ... See more keywords
Vascular malformation rupture in a patient affected by Costello syndrome
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DOI: 10.1136/bcr-2022-250948
Abstract: Costello syndrome (CS) is a rare genetic syndrome affecting multiple organs, generally caused by mutations of the HRAS gene, belonging to the RAS/MAPK genes family. A male patient with CS developed a painful pulsatile mass… read more here.
Keywords: costello syndrome; patient; rupture; vascular malformation ... See more keywords
Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.1000575
Abstract: RAS GTPases are ubiquitous GDP/GTP-binding proteins that function as molecular switches in cellular signalling and control numerous signalling pathways and biological processes. Pathogenic mutations in RAS genes severely affect cellular homeostasis, leading to cancer when… read more here.
Keywords: hras g12v; costello syndrome; bone loss; increased osteoclastogenesis ... See more keywords
Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome
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DOI: 10.3390/brainsci10070450
Abstract: Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to… read more here.
Keywords: treatment dystonia; dystonia using; dystonia; costello syndrome ... See more keywords