Results 21 to 30 of about 1,575 (156)

The heart in RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022
AbstractThe cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical ...
Angelica Bibiana Delogu, Giuseppe Limongelli, Paolo Versacci, Rachele Adorisio, Juan Pablo Kaski, Rita Blandino, Stella Maiolo, Emanuele Monda, Carolina Putotto, Gabriella De Rosa, Kathryn C. Chatfield, Bruce D. Gelb, Giulio Calcagni   +12 more
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Prenatal diagnosis of euploid increased nuchal translucency on fetal ultrasound (II): RASopathy disorders – Prenatal ultrasound findings and genotype–phenotype correlations

Journal of Medical Ultrasound, 2023
Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors, although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome.
Chih-Ping Chen
doaj   +1 more source

RASopathies: Dermatologists’ viewpoints

Indian Journal of Dermatology, Venereology and Leprology, 2021
Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation ...
Aparna, Palit, Arun C, Inamadar
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The RASopathies [PDF]

Annual Review of Genomics and Human Genetics, 2013
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation ...
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Autism traits in the RASopathies [PDF]

Journal of Medical Genetics, 2013
Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and
Adviento, Brigid, Corbin, Iris L, Widjaja, Felicia, Desachy, Guillaume, Enrique, Nicole, Rosser, Tena, Risi, Susan, Marco, Elysa J, Hendren, Robert L, Bearden, Carrie E, Rauen, Katherine A, Weiss, Lauren A   +11 more
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Recent advances in RASopathies [PDF]

Journal of Human Genetics, 2015
RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of phenotypically overlapping syndromes caused by germline mutations that encode components of the RAS/MAPK signaling pathway. These disorders include neurofibromatosis type I, Legius syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines (formerly called ...
Yoko, Aoki, Tetsuya, Niihori, Shin-ichi, Inoue, Yoichi, Matsubara   +3 more
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Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy

iScience, 2021
Summary: RASopathies represent a family of mostly autosomal dominant diseases that are caused by missense variants in the rat sarcoma viral oncogene/mitogen activated protein kinase (RAS/MAPK) pathway including KRAS, NRAS, BRAF, RAF1, and SHP2.
Tirtha K. Das, Jared Gatto, Rupa Mirmira, Ethan Hourizadeh, Dalia Kaufman, Bruce D. Gelb, Ross Cagan   +6 more
doaj   +1 more source

Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort

Orphanet Journal of Rare Diseases, 2019
Background The RASopathies are a class of developmental disorders caused by germline mutations in the RAS-mitogen-activated protein kinase (MAPK) pathway.
Hao Chen, Xin Li, Xiaoliang Liu, Jian Wang, Zhen Zhang, Jinjin Wu, Meirong Huang, Ying Guo, Fen Li, Xiumin Wang, Lijun Fu   +10 more
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Nevus anemicus and RASopathies [PDF]

JAAD Case Reports, 2018
Tadini and colleagues were the first to report the correlation between anemic nevi and RASopathies.1 A retrospective study in their genodermatosis center identified anemic nevi at different anatomic sites in a cohort of neurofibromatosis type 1 (NF1) (50/565).
Bulteel, Charlotte, Morren, Marie-Anne, De Haes, Petra, Denayer, Ellen, Legius, Eric, Brems, Hilde   +5 more
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RASopathy Syndrome: Do Not Overlook Mitral Valve Anomalies! [PDF]

JACC Case Rep
Calcagni G, Maiolo S, Marino B, Putotto C.   +3 more
europepmc   +2 more sources