Publications by authors named "Asif Mir"

35Publications

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.

BMC Med Genet 2020 08 24;21(1):168. Epub 2020 Aug 24.

Key Laboratory of Molecular Medicine and Biotherapy, Department of Biology, School of Life Science, Beijing Institute of Technology, Beijing, China.

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August 2020

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.

BMC Med Genet 2020 03 24;21(1):59. Epub 2020 Mar 24.

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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March 2020

The genetics of intellectual disability: advancing technology and gene editing.

F1000Res 2020 16;9. Epub 2020 Jan 16.

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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October 2020

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Hum Genet 2019 Oct 30;138(10):1183-1200. Epub 2019 Aug 30.

Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, RI, USA.

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October 2019

Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

J Biomed Sci 2019 04 28;26(1):31. Epub 2019 Apr 28.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-AzamUniversity, University Road, Islamabad, 45320, Pakistan.

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April 2019

Pharmacoinformatics and molecular docking reveal potential drug candidates against Schizophrenia to target TAAR6.

J Cell Physiol 2019 08 19;234(8):13263-13276. Epub 2018 Dec 19.

State Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China.

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August 2019

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

J Biomed Sci 2018 Nov 17;25(1):82. Epub 2018 Nov 17.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, Post code 45320, Pakistan.

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November 2018

Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.

Diagn Pathol 2017 Jul 5;12(1):47. Epub 2017 Jul 5.

Institute of Biomedical and Genetic Engineering, 24-Mauve area, G-9/1, Islamabad, 44000, Pakistan.

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July 2017

Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.

Mol Neurobiol 2018 May 28;55(5):4417-4427. Epub 2017 Jun 28.

Department of Bioinformatics and Biotechnology, Faculty of Basic and Applied Sciences, International Islamic University, Islamabad, Pakistan.

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May 2018

Epigenetics in Alzheimer's Disease: Perspective of DNA Methylation.

Mol Neurobiol 2018 02 14;55(2):1026-1044. Epub 2017 Jan 14.

Beijing Key Laboratory of Separation and Analysis in Biomedical and Pharmaceuticals, Department of Biomedical Engineering, School of Life Sciences, Beijing Institute of Technology, Beijing, People's Republic of China.

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February 2018

Adaptive evolution and elucidating the potential inhibitor against schizophrenia to target DAOA (G72) isoforms.

Drug Des Devel Ther 2015 3;9:3471-80. Epub 2015 Jul 3.

Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan.

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April 2016

Computational analysis of benzofuran-2-carboxlic acids as potent Pim-1 kinase inhibitors.

Pharm Biol 2014 Sep 25;52(9):1170-8. Epub 2014 Apr 25.

Computational Medicinal Chemistry Laboratory, Department of Biochemistry, Abdul Wali Khan University , Mardan , Pakistan and.

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September 2014

The C-terminal region of G72 increases D-amino acid oxidase activity.

Int J Mol Sci 2013 Dec 20;15(1):29-43. Epub 2013 Dec 20.

Graduate Institute of Basic Medical Science, College of Medicine, China Medical University, No. 91, Hsueh-Shih Road, Taichung 40402, Taiwan.

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December 2013