Results 1 to 10 of about 7,783 (160)

Anterior lenticular opacities in Costello Syndrome [PDF]

American Journal of Ophthalmology Case Reports, 2021
Purpose: A case of anterior lenticular opacities in a patient of Costello Syndrome is reported. Observations: Bilateral anterior capsular plaque along with anterior lens opacities (Anterior Segment Optical Coherence Tomography) has been demonstrated in a
Anchal Thakur, Vishal Thakur, Tripti Choudhary, Rahul Mahajan, Ashish Kulshrestha, Amit Gupta   +5 more
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Fatal leukodystrophy in Costello syndrome: a case report [PDF]

BMC Pediatrics, 2023
Background Costello syndrome (CS) is a rare genetic condition characterized by dysregulation of the signaling pathway, phenotypic alteration due to fetal macrosomia or growth retardation, facial abnormalities, loose skin, cardiovascular abnormalities ...
Virgilio E. Failoc-Rojas, Piero A. Quiroz Ugaz, Dante A. Loconi León, Sandra Zeña-Ñañez   +3 more
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Multidisciplinary Management of Costello Syndrome: Current Perspectives [PDF]

Journal of Multidisciplinary Healthcare, 2022
Chiara Leoni,1 Germana Viscogliosi,1 Marco Tartaglia,2 Yoko Aoki,3 Giuseppe Zampino1,4 1Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario “A.
Leoni C, Viscogliosi G, Tartaglia M, Aoki Y, Zampino G   +4 more
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Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model [PDF]

Frontiers in Cell and Developmental Biology, 2022
RAS GTPases are ubiquitous GDP/GTP-binding proteins that function as molecular switches in cellular signalling and control numerous signalling pathways and biological processes.
Sayantan Nandi, Saravanakkumar Chennappan, Yannik Andrasch, Miray Fidan, Melanie Engler, Mubashir Ahmad, Jan P. Tuckermann, Martin Zenker, Ion Cristian Cirstea   +8 more
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Dysplastic Mitral Valve in Costello Syndrome [PDF]

JACC: Case Reports
Costello syndrome is an autosomal dominant condition caused by variants in the HRAS gene. Cardiac presentation includes valvular disease (usually valvar pulmonary stenosis), arrhythmias, and hypertrophic cardiomyopathy.
Tamara Naneishvili, MBBS, Mengshi Yuan, MBBS, Mohamed Mansour, MBBS, William E. Moody, PhD, Richard P. Steeds, MA, MD   +4 more
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Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome [PDF]

Brain Sciences, 2020
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 ...
Domenico M. Romeo, Alessandro Specchia, Alfonso Fasano, Chiara Leoni, Roberta Onesimo, Claudia Brogna, Stefania Veltri, Giuseppe Zampino   +7 more
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MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model [PDF]

Disease Models & Mechanisms, 2022
Costello syndrome (CS) is a congenital disorder caused by heterozygous activating germline HRAS mutations in the canonical Ras/mitogen-activated protein kinase (Ras/MAPK) pathway.
William E. Tidyman, Alice F. Goodwin, Yoshiko Maeda, Ophir D. Klein, Katherine A. Rauen   +4 more
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Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Costello syndrome (CS, OMIM 218040) is a rare congenital disorder caused by mutations in HRAS. Previous studies reported that approximately 80% of patients with CS share the same pathogenic variant in HRAS gene in c.34G> A (p.G12S).
Wen Qian, Meijie Zhang, Hequn Huang, Yihe Chen, Gajin Park, Ni Zeng, Yueyue Li, Qian Lu, Dan Luo   +8 more
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Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome [PDF]

Children, 2022
Costello syndrome (CS) is a type of RASopathy caused mainly by de-novo heterozygous pathogenic variants in the HRAS gene located on chromosome 11p15.5.
Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin   +8 more
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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies.
Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino   +11 more
doaj   +2 more sources