Results 111 to 120 of about 1,575 (156)

Restoring the 14-3-3/CRAF regulatory interaction in Noonan syndrome using molecular glues. [PDF]

Proc Natl Acad Sci U S A
Virta JM, Vickery HR, Konstantinidou M, Crawford MC, Pennings MAM, Ottmann C, Brunsveld L, Arkin MR.   +7 more
europepmc   +1 more source

Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic Cardiomyopathy. [PDF]

JACC Case Rep
Feidakis A, Nies R, Kural M, Pennig L, Winnerling N, Erger F, Pfister R, Seuthe K.   +7 more
europepmc   +1 more source

Right-Left Differential Cyanosis in a Newborn With a Circumflex Retroesophageal Left Aortic Arch. [PDF]

JACC Case Rep
Galindo-Hayashi JM, López-Guillén JL, Kirsch R, Bitterman Y, Howell A, Yoo SJ.   +5 more
europepmc   +1 more source

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models. [PDF]

J Clin Invest
Kang M, Choi J, Han J, Araki T, Kim SW, Ryu HH, Kim MG, Kim S, Jang H, Kim SY, Hwang KD, Kim S, Yoo M, Lee J, Kim K, Park P, Choi JE, Han DH, Kim Y, Kim J, Chang S, Kaang BK, Ko JM, Cheon KA, An JY, Kim SJ, Park H, Neel BG, Kim CH, Lee YS.   +29 more
europepmc   +1 more source

Costello Syndrome Complicated by Midventricular Obstruction With an Apical Aneurysm. [PDF]

Circ Rep
Tanabe J, Yasuda K, Yamaguchi K, Okada T, Yoshitomi H, Endo A, Tanabe K.   +6 more
europepmc   +1 more source

The road to therapy for myeloid sarcoma: navigating the complexities of subclonal MAPK/ERK mutations and clonal evolution. [PDF]

J Pathol Clin Res
Yang D, Yang J, Wang G.
europepmc   +1 more source

M-Ras distinct activation scenarios: A mechanistic outlook and targeting. [PDF]

Comput Struct Biotechnol J
Xu L, Liu Y, Jang H, Nussinov R.
europepmc   +1 more source

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

Front Genet
Chretien M, Osouf J, Abel C, Afenjar A, Attie-Bitach T, Brischoux-Boucher E, Burglen L, Calmels N, Chassaing N, Courtin T, Delanne J, Doco-Fenzy M, Dubourg C, Durand B, Chehadeh SE, Faivre L, Garde A, Ginglinger E, Haushalter V, Haye D, Heide S, Heidet L, Heron D, Jacquin C, Lambert L, Lamouche JB, Laugel V, Bechec AL, Lehalle D, Michel-Calemard L, Ramirez EM, Muller J, Odent S, Patat O, Piard J, Poirsier C, Putoux A, Quelin C, Racine C, Sananes N, Schalk A, Scheidecker S, Thauvin-Robinet C, Valence S, Weingertner AS, Wourms J, Dollfus H, Gerard B, Schluth-Bolard C, Schaefer E.   +49 more
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RASopathies

Clinics in Dermatology, 2020
RASopathies are a group of disorders characterized by mutations in the RAS-MAPK pathway. RAS-MAP signaling plays a critical role in cell differentiation, proliferation, and survival. Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1.
Mustufa, Jafry, Robert, Sidbury
openaire   +2 more sources

Endocrinological manifestations in RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022
AbstractThe evaluation of endocrine involvement in RASopathies is important for the care and follow‐up of patients affected by these conditions. Short stature is a cardinal feature of RASopathies and correlates with multiple factors. Growth hormone treatment is a therapeutic possibility to improve height and quality of life.
Federica Tamburrino, Emanuela Scarano, Concetta Schiavariello, Annamaria Perri, Andrea Pession, Laura Mazzanti   +5 more
openaire   +2 more sources