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An Unusual Presentation of Costello Syndrome in a Boy with Precocious Puberty and Chiari I Malformation: A Case Report.
Cureus
February 2025
Pediatric Endocrinology and Diabetology Unit, Pediatrics Department, Unidade Local de Saúde de Braga, Braga, PRT.
Costello syndrome is a rare genetic disorder associated with developmental delay, short stature, and pubertal delay. However, a few cases of precocious puberty have been reported, reflecting the complex regulation of the hypothalamic-pituitary-gonadal axis affected by Harvey rat sarcoma viral oncogene homolog (HRAS) gene mutations. We present a case of a boy with Costello syndrome, heterozygous for a mutation in the HRAS gene, first seen in a pediatric endocrinology consultation at the age of nine years and seven months with central precocious puberty and short stature (-0.
View Article and Find Full Text PDFImpaired MC3T3-E1 osteoblast differentiation triggered by oncogenic HRAS is rescued by the farnesyltransferase inhibitor Tipifarnib.
Sci Rep
February 2025
Institute of Comparative Molecular Endocrinology, Ulm University, Ulm, Germany.
HRAS is a ubiquitously expressed protein and functions as a central regulator of cellular homeostasis. In somatic cells, mutations in this gene cause cancer, while germline mutations trigger a developmental disorder known as Costello syndrome (CS). Among numerous pathologies, adult CS patients develop osteoporosis.
View Article and Find Full Text PDFGermline mutations that increase signaling through the Ras pathway can cause developmental disorders called RASopathies. The RASopathy Costello syndrome has been described to present with hallmarks that include short stature, intellectual disability, cardiac issues, and characteristic facial abnormalities and has been associated with gain-of-function mutations in HRas. The most common HRas mutations in Costello Syndrome occur at G12 and G13, but there are also other rare mutation sites such as K117 including HRas .
View Article and Find Full Text PDFInternational Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.
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The Schinzel-Giedion Syndrome Foundation, West Sussex, UK.
Schinzel-Giedion Syndrome (SGS) is an ultra-rare, multisystem, genetic developmental disorder caused by gain-of-function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
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