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Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
We report here that individuals with Noonan syndrome and juvenile myelomonocytic leukemia (JMML) have germline mutations in PTPN11 and that somatic mutations in PTPN11 account for 34% ofExpand
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
TLDR
It is shown that missense mutations in PTPN11—a gene encoding the nonreceptor protein tyrosine phosphatase SHP-2, which contains two Src homology 2 (SH2) domains—cause Noonan syndrome and account for more than 50% of the cases that were examined. Expand
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
TLDR
The spectrum and distribution of PTPN11 mutations in a large, well-characterized cohort with NS revealed that pulmonic stenosis was more prevalent among the group of subjects with NS who had PTP N11 mutations than it was in the group without them, andotype-phenotype analysis revealed that hypertrophic cardiomyopathy was less prevalent among those with PTPn11 mutations. Expand
Business Advertising Appeals as a Mirror of Cultural Dimensions: A Study of Eleven Countries
Abstract Across cultures, do systematic differences in advertising content mirror predictable differences in the cultures themselves? The authors designed a study to shed light on that question,Expand
Genetics of congenital heart disease: the glass half empty.
TLDR
How the advent of contemporary genomic technologies including single nucleotide polymorphism arrays, next-generation sequencing, and copy number variant platforms are accelerating the discovery of genetic causes of CHD is explored. Expand
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
TLDR
The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings. Expand
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in
TLDR
It is anticipated that this summary will update a wide range of medical personnel about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenitals heart disease. Expand
De novo mutations in histone modifying genes in congenital heart disease
TLDR
Comparing the incidence of de novo mutations in severe CHD cases and controls by analysing exome sequencing of parent–offspring trios suggests that several hundreds of genes collectively contribute to approximately 10% of severeCHD. Expand
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
TLDR
Ectopically expressed RAF1 mutants from the two HCM hotspots had increased kinase activity and enhanced ERK activation, whereas non–HCM-associated mutants were kinase impaired, which implicate increased RAS signaling in pathological cardiomyocyte hypertrophy. Expand
Matching Advertising Appeals to Culture: The Influence of Products' Use Conditions
Abstract In an empirical study, the authors investigated the effects of different advertising appeals used in the United States and China. The study focused on the match between values expressed inExpand
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