نتایج جستجو برای: genetic variants

تعداد نتایج: 690127  

2016
Beverly A Schaefer Jonathan M Flanagan Ofelia A Alvarez Stephen C Nelson Banu Aygun Kerri A Nottage Alex George Carla W Roberts Connie M Piccone Thad A Howard Barry R Davis Russell E Ware

Discovery and validation of genetic variants that influence disease severity in children with sickle cell anemia (SCA) could lead to early identification of high-risk patients, better screening strategies, and intervention with targeted and preventive therapy. We hypothesized that newly identified genetic risk factors for the general African American population could also impact laboratory biom...

2018
Alessia Russo Cornelia Di Gaetano Giovanni Cugliari Giuseppe Matullo

Worldwide, hypertension still represents a serious health burden with nine million people dying as a consequence of hypertension-related complications. Essential hypertension is a complex trait supported by multifactorial genetic inheritance together with environmental factors. The heritability of blood pressure (BP) is estimated to be 30-50%. A great effort was made to find genetic variants af...

2017
Katri Kantojärvi Johanna Liuhanen Outi Saarenpää-Heikkilä Anna-Liisa Satomaa Anneli Kylliäinen Pirjo Pölkki Julia Jaatela Auli Toivola Lili Milani Sari-Leena Himanen Tarja Porkka-Heiskanen Juulia Paavonen Tiina Paunio

Genetic variants in CACNA1C (calcium voltage-gated channel subunit alpha1 C) are associated with bipolar disorder and schizophrenia where sleep disturbances are common. In an experimental model, Cacna1c has been found to modulate the electrophysiological architecture of sleep. There are strong genetic influences for consolidation of sleep in infancy, but only a few studies have thus far researc...

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