Missense Mutations in the
            <i>PTPN11</i>
            as a Cause of Cardiac Defects Associated with Noonan Syndrome

Kamisago, Mitsuhiro; Hirayama‐Yamada, Kayoko; Kato, Taichi; Imamura, Shinichiro; Joo, Kunitaka; Ando, Masahiko; Akiyama, Takayuki; Momma, Kazuo; Nakazawa, Makoto; Matsuoka, Rumiko

doi:10.1002/9780470988664.ch66

Cited by 3 publications

(1 citation statement)

References 9 publications

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“… Noonan syndrome ( PTPN11 ): 19 Tartaglia et al [2002], 20 Sarkozy et al [2003], 21 Zenker et al [2004], 22 Jongmans et al [2005], 23 Kamisago et al [2005], and 24 Sznajer et al [2007]. …”

Section: Resultsmentioning

confidence: 99%

Antimicrobial activity of some new 4‐arylazo‐3‐methylthiophene disperse dyes on polyester fabrics

Gafer

Abdel‐Latif

2011

J of Applied Polymer Sci

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A series of novel 4-arylazo-3-methylthiophenes was synthesized by the heterocyclization of 2-arylhydrazono-2-acetyl thioacetanilide derivatives with a variety of a-halogenated reagents, such as chloroacetone, phenacyl bromide, ethyl chloroacetate, and chloroacetonitrile. The structures of the synthesized thiophene derivatives were confirmed by ultraviolet-visible, IR, and 1 H-NMR spectroscopic techniques and elemental analysis.The synthesized dyes were applied to polyester fabrics as disperse dyes, and their fastness properties were evaluated. The dyed polyester fabrics displayed antibacterial efficacy against Gram-positive (Staphylococcus aureus) and Gram-negative (Escherichia coli) bacteria. V C 2011 Wiley Periodicals, Inc. J Appl Polym Sci 122: [83][84][85][86][87][88][89] 2011

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“… Noonan syndrome ( PTPN11 ): 19 Tartaglia et al [2002], 20 Sarkozy et al [2003], 21 Zenker et al [2004], 22 Jongmans et al [2005], 23 Kamisago et al [2005], and 24 Sznajer et al [2007]. …”

Section: Resultsmentioning

confidence: 99%

Antimicrobial activity of some new 4‐arylazo‐3‐methylthiophene disperse dyes on polyester fabrics

Gafer

Abdel‐Latif

2011

J of Applied Polymer Sci

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Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

Lin

Alexander

Colan

et al. 2011

American J of Med Genetics Pt A

108

106

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Cardiovascular abnormalities are important features of Costello syndrome and other Ras/MAPK pathway syndromes (“RASopathies”). We conducted clinical, pathological and molecular analyses of 146 patients with an HRAS mutation including 61 enrolled in an ongoing longitudinal study and 85 from the literature. In our study, the most common (84%) HRAS mutation was p.G12S. A congenital heart defect (CHD) was present in 27 of 61 patients (44%), usually non‐progressive valvar pulmonary stenosis. Hypertrophic cardiomyopathy (HCM), typically subaortic septal hypertrophy, was noted in 37 (61%), and 5 also had a CHD (14% of those with HCM). HCM was chronic or progressive in 14 (37%), stabilized in 10 (27%), and resolved in 5 (15%) patients with HCM; follow‐up data was not available in 8 (22%). Atrial tachycardia occurred in 29 (48%). Valvar pulmonary stenosis rarely progressed and atrial septal defect was uncommon. Among those with HCM, the likelihood of progressing or remaining stable was similar (37%, 41% respectively). The observation of myocardial fiber disarray in 7 of 10 (70%) genotyped specimens with Costello syndrome is consistent with sarcomeric dysfunction. Multifocal atrial tachycardia may be distinctive for Costello syndrome. Potentially serious atrial tachycardia may present in the fetus, and may continue or worsen in about one‐fourth of those with arrhythmia, but is generally self‐limited in the remaining three‐fourths of patients. Physicians should be aware of the potential for rapid development of severe HCM in infants with Costello syndrome, and the need for cardiovascular surveillance into adulthood as the natural history continues to be delineated. © 2011 Wiley‐Liss, Inc.

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The Heart in Ras-MAPK Pathway Disorders

Digilio

Marino

Sárközy

et al. 2008

Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling

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Missense Mutations in the PTPN11 as a Cause of Cardiac Defects Associated with Noonan Syndrome

Cited by 3 publications

References 9 publications

Antimicrobial activity of some new 4‐arylazo‐3‐methylthiophene disperse dyes on polyester fabrics

Antimicrobial activity of some new 4‐arylazo‐3‐methylthiophene disperse dyes on polyester fabrics

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

The Heart in Ras-MAPK Pathway Disorders

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