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PubMed 28507206 Real-World Data on Prognostic Factors for Overall Survival in EGFR Mutation-Positive Advanced Non-Small Cell Lung Cancer Patients Treated with First-Line Gefitinib. BACKGROUND: This study aimed to ide 2.53 KB 2019-09-23 21 7
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PubMed 28973643 Tacrolimus rescues the signaling and gene expression signature of endothelial ALK1 loss-of-function and improves HHT vascular pathology. Hereditary hemorrhagic telangiectasia (HHT) is a highly debilit 1.69 KB 2019-09-23 25 8
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PubMed 28464429 Short hairpin RNA is more effective than long hairpin RNA in eliciting pointed loss-of-function phenotypes in Drosophila. Pointed (Pnt) is a transcriptional activator that functions downstream of the 1.12 KB 2019-09-23 28 7
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PubMed 21175440 The combined impact of CYP2C19 and CYP2B6 pharmacogenetics on cyclophosphamide bioactivation. AIMS: The role of CYP pharmacogenetics in the bioactivation of cyclophosphamide is still controversial. Re 1.69 KB 2019-09-23 29 28
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PubMed 28758421 PCSK9 deficiency results in increased ectopic fat accumulation in experimental models and in humans. Background Proprotein convertase subtilisin kexin type 9 (PCSK9) regulates low-density lipoprotein 1.4 KB 2019-09-23 29 21
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PubMed 29621572 Identification of a unique loss-of-function mutation in IGF1R and a crosstalk between IGF1R and Wnt/β-catenin signaling pathways. IGF1R is a ubiquitous receptor tyrosine kinase that plays critical rol 1.69 KB 2019-09-23 27 11
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PubMed 30042232 The lateral meningocele syndrome mutation causes marked osteopenia in mice. Lateral meningocele syndrome (LMS) is a rare genetic disorder characterized by neurological complications and osteoporosis. 1.94 KB 2019-09-23 48 67
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PubMed 29240891 Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. Context: The etiology of primary ovarian insufficiency (POI) remains unknown in most cases. Object 1.82 KB 2019-09-23 28 18
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PubMed 30535219 Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. Importance: Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the population. Young indivi 2.58 KB 2019-09-23 27 18
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PubMed 29452565 Serum vitamin C levels modulate the lifespan and endoplasmic reticulum stress response pathways in mice synthesizing a nonfunctional mutant WRN protein. Werner syndrome (WS) is a premature aging disor 1.71 KB 2019-09-23 27 7
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