A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

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第一作者： Asia,Parveen

第一单位： Institute of Molecular Biology and Biotechnology (IMBB), Centre for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore, Pakistan.;Faculty of Life Sciences, University of Central Punjab (UCP), Lahore, Pakistan.

作者： Asia,Parveen ^[1] ; Muhammad U,Mirza ^[2] ; Michiel,Vanmeert ^[2] ; Javed,Akhtar ^[3] ; Hina,Bashir ^[4] ; Saadullah,Khan ^[5] ; Saqib,Shehzad ^[6] ; Matheus,Froeyen ^[2] ; Wasim,Ahmed ^[7] ; Muhammad,Ansar ^[7] ; Naveed,Wasif ^[8]

作者单位： Institute of Molecular Biology and Biotechnology (IMBB), Centre for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore, Pakistan.;Faculty of Life Sciences, University of Central Punjab (UCP), Lahore, Pakistan. ^[1] Department of Pharmaceutical Sciences, REGA Institute for Medical Research, Medicinal Chemistry, University of Leuven, Leuven, Belgium. ^[2] Institute of Molecular Biology and Biotechnology (IMBB), Centre for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore, Pakistan. ^[3] Institute of Molecular Biology and Biotechnology (IMBB), Centre for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore, Pakistan.;Department of Biochemistry, Sharif Medical and Dental College, Lahore, Pakistan. ^[4] Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Pakistan. ^[5] Faculty of Life Sciences, University of Central Punjab (UCP), Lahore, Pakistan. ^[6] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. ^[7] Institute of Molecular Biology and Biotechnology (IMBB), Centre for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore, Pakistan.;Institute of Human Genetics, University of Ulm & University Hospital, Ulm, Germany.;Institute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, Germany. ^[8]

关键词 CNNM4 CBS domain Jalili Syndrome MD Simulations missense variant

主题词青少年(Adolescent);釉质形成不全(Amelogenesis Imperfecta);阳离子转运蛋白质类(Cation Transport Proteins);儿童(Child);结晶学, X线(Crystallography, X-Ray);胱硫醚β合酶(Cystathionine beta-Synthase);外显子(Exons);女(雌)性(Female);人类(Humans);男(雄)性(Male);分子动力学模拟(Molecular Dynamics Simulation);突变(Mutation);突变, 误义(Mutation, Missense);巴基斯坦(Pakistan);系谱(Pedigree);蛋白质构象(Protein Conformation);序列分析, 蛋白质(Sequence Analysis, Protein)

DOI 10.1002/mgg3.902

PMID 31347285

发布时间 2021-01-10

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Molecular genetics & genomic medicine

2019年7卷9期

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A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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