Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines
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منابع مشابه
Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.
Noonan syndrome with multiple lentigines (NSML) is primarily caused by mutations in the nonreceptor protein tyrosine phosphatase SHP2 and associated with congenital heart disease in the form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Our goal was to elucidate the cellular mechanisms underlying the development of HCM caused by the Q510E mutation in SHP2. NSML patients car...
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Noonan Syndrome with Multiple Lentigines (NSML, formerly LEOPARD syndrome) is an autosomal dominant "RASopathy" disorder manifesting in congenital heart disease. Most cases of NSML are caused by catalytically inactivating mutations in the protein tyrosine phosphatase (PTP), non-receptor type 11 (PTPN11), encoding the SH2 domain-containing PTP-2 (SHP2) protein. We previously generated knock-in m...
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From the Department of Neurology, MacKay Memorial Hospital. Received February 26, 2015. Revised March 4, 2015. Accepted March 6, 2015. Correspondence to: Lu-An, Chen, MD. Department of Neurology, MacKay Memorial Hospital, No. 47, Minquan Rd., Tamsui Dist., New Taipei City 251, Taiwan. E-mail: [email protected] Figure 1. Magnetic resonance image (MRI) of the brain, postgadolinium T1-weighted ima...
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ژورنال
عنوان ژورنال: American Journal of Physiology-Heart and Circulatory Physiology
سال: 2015
ISSN: 0363-6135,1522-1539
DOI: 10.1152/ajpheart.00501.2014