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PubMed 26637668 Recurrent MLK4 Loss-of-Function Mutations Suppress JNK Signaling to Promote Colon Tumorigenesis. MLK4 is a member of the mixed-lineage family of kinases that regulate the JNK, p38, and ERK kinase sign 1.47 KB 2019-09-23 33 33
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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 28838926 A comprehensive functional assessment of carboxylesterase 1 nonsynonymous polymorphisms. Carboxylesterase 1 (CES1) is the predominant human hepatic hydrolase responsible for the metabolism of many cli 1.88 KB 2019-09-23 28 41
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PubMed 28836768 A single active site mutation in the pikromycin thioesterase generates a more effective macrocyclization catalyst. Macrolactonization of natural product analogs presents a significant challenge to bot 1.39 KB 2019-09-23 37 9
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PubMed 28834165 A gain-of-function mutation in TNFRSF13B is a candidate for predisposition to familial or sporadic immune thrombocytopenia. BACKGROUND: Most immune thrombocytopenia (ITP) is sporadic but a positive fa 1.55 KB 2019-09-23 29 40
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PubMed 28833578 Loss-of-function mutations in filaggrin gene and malignant melanoma: a case control study. BACKGROUND: Loss-of-function mutations in filaggrin gene (FLG) have been suggested to increase the susceptibi 1.46 KB 2019-09-23 28 15
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PubMed 28826751 Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients. Genetic medici 1.75 KB 2019-09-23 28 7
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PubMed 28817352 ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions. Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth defect of complex etiology. Previous studies identified muta 1.97 KB 2019-09-23 30 30
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PubMed 28807867 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. Pitt-Hopkins syndrome is a neurodevel 2.1 KB 2019-09-23 28 30
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PubMed 28800850 Characterization of the autophagy-related gene BmATG8 in Bipolaris maydis. Autophagy is involved in cellular development and the maintenance of viability under nutrient deprivation in a wide range of 1.62 KB 2019-09-23 28 18
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