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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Am+J+Med+Genet+A
2010 ; 152A
(1
): 4-24
Nephropedia Template TP
gab.com Text
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Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside
to bench and back
#MMPMID20014119
Rauen KA
; Schoyer L
; McCormick F
; Lin AE
; Allanson JE
; Stevenson DA
; Gripp KW
; Neri G
; Carey JC
; Legius E
; Tartaglia M
; Schubbert S
; Roberts AE
; Gelb BD
; Shannon K
; Gutmann DH
; McMahon M
; Guerra C
; Fagin JA
; Yu B
; Aoki Y
; Neel BG
; Balmain A
; Drake RR
; Nolan GP
; Zenker M
; Bollag G
; Sebolt-Leopold J
; Gibbs JB
; Silva AJ
; Patton EE
; Viskochil DH
; Kieran MW
; Korf BR
; Hagerman RJ
; Packer RJ
; Melese T
Am J Med Genet A
2010[Jan]; 152A
(1
): 4-24
PMID20014119
show ga
The RASopathies are a group of genetic syndromes caused by germline mutations in
genes that encode components of the Ras/mitogen-activated protein kinase (MAPK)
pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome,
Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius
syndrome. Their common underlying pathogenetic mechanism brings about significant
overlap in phenotypic features and includes craniofacial dysmorphology, cardiac,
cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to
cancer. The proceedings from the symposium "Genetic Syndromes of the Ras/MAPK
Pathway: From Bedside to Bench and Back" chronicle the timely and typical
research symposium which brought together clinicians, basic scientists,
physician-scientists, advocate leaders, trainees, students and individuals with
Ras syndromes and their families. The goals, to discuss basic science and
clinical issues, to set forth a solid framework for future research, to direct
translational applications towards therapy and to set forth best practices for
individuals with RASopathies were successfully meet with a commitment to begin to
move towards clinical trials.