Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach
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Md Jahirul Islam | Md Rimon Parves | Shafi Mahmud | Fahmida Alam Tithi | Md Abu Reza | M. Islam | Md. Abu Reza | S. Mahmud | Md. Rimon Parves
[1] Zhe Zhang,et al. Computational analysis of missense mutations causing Snyder‐Robinson syndrome , 2010, Human mutation.
[2] C. Chakraborty,et al. In silico discrimination of nsSNPs in hTERT gene by means of local DNA sequence context and regularity , 2013, Journal of Molecular Modeling.
[3] Tal Pupko,et al. Structural Genomics , 2005 .
[4] Elizabeth M. Smigielski,et al. dbSNP: a database of single nucleotide polymorphisms , 2000, Nucleic Acids Res..
[5] A. Hinck,et al. Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties. , 2012, Biochemistry.
[6] A. Pławski,et al. Juvenile polyposis syndrome , 2014, Archives of medical science : AMS.
[7] J. Miller,et al. Predicting the Functional Effect of Amino Acid Substitutions and Indels , 2012, PloS one.
[8] A. Kotzsch,et al. The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding. , 2008, Biochemistry.
[9] H T Lynch,et al. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations , 2004, Journal of Medical Genetics.
[10] C. Sudandiradoss,et al. Identification and in silico analysis of functional SNPs of the BRCA1 gene. , 2007, Genomics.
[11] Riccardo Baron,et al. Computational Drug Discovery and Design , 2012, Methods in Molecular Biology.
[12] Giovanni Colonna,et al. ESBRI: A web server for evaluating salt bridges in proteins , 2008, Bioinformation.
[13] Fumiko Itoh,et al. Signaling of transforming growth factor‐β family members through Smad proteins , 2000 .
[14] M. Lek,et al. Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a , 2009, BMC musculoskeletal disorders.
[15] E. Capriotti,et al. Functional annotations improve the predictive score of human disease‐related mutations in proteins , 2009, Human mutation.
[16] N. Ben-Tal,et al. Comparison of site-specific rate-inference methods for protein sequences: empirical Bayesian methods are superior. , 2004, Molecular biology and evolution.
[17] C. George Priya Doss,et al. Computational Refinement of Functional Single Nucleotide Polymorphisms Associated with ATM Gene , 2012, PloS one.
[18] M Vihinen,et al. Relationship of protein flexibility to thermostability. , 1987, Protein engineering.
[19] Gert Vriend,et al. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces , 2010, BMC Bioinformatics.
[20] Piero Fariselli,et al. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure , 2005, Nucleic Acids Res..
[21] Tariq Ahmad Masoodi,et al. In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene. , 2012, Gene.
[22] M. Stolte,et al. Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers , 2002, Human Genetics.
[23] T. Waldman,et al. Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor. , 2004, Biochemical and biophysical research communications.
[24] G. Schulz,et al. Adenylate kinase motions during catalysis: an energetic counterweight balancing substrate binding. , 1996, Structure.
[25] Victor E. Velculescu,et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis , 2001, Nature Genetics.
[26] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.
[27] C. George Priya Doss,et al. A New Insight into Structural and Functional Impact of Single-Nucleotide Polymorphisms in PTEN Gene , 2013, Cell Biochemistry and Biophysics.
[28] Gerard C Blobe,et al. Role of transforming growth factor Beta in human cancer. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[29] V. Rosen. BMP and BMP Inhibitors in Bone , 2006, Annals of the New York Academy of Sciences.
[30] K. Miyazono,et al. Bone morphogenetic protein receptors and activin receptors are highly expressed in ossified ligament tissues of patients with ossification of the posterior longitudinal ligament. , 1997, The American journal of pathology.
[31] A. Giuliani,et al. Early events in protein aggregation: Molecular flexibility and hydrophobicity/charge interaction in amyloid peptides as studied by molecular dynamics simulations , 2004, Proteins.
[32] B. Vogelstein,et al. GermlineSMAD4 orBMPRIA mutations and phenotype of juvenile polyposis , 2002, Annals of Surgical Oncology.
[33] Tal Pupko,et al. ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids , 2010, Nucleic Acids Res..
[34] M. Karplus,et al. Molecular dynamics and protein function. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[35] Mi Zhou,et al. nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms , 2005, Nucleic Acids Res..
[36] R. Wolff,et al. Genetic variation in bone morphogenetic protein and colon and rectal cancer , 2012, International journal of cancer.
[37] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[38] Donghong Wang,et al. BMPR1A mutations in juvenile polyposis affect cellular localization. , 2013, The Journal of surgical research.
[39] D. Roberts,et al. Molecular mechanisms of development of the gastrointestinal tract , 2000, Developmental dynamics : an official publication of the American Association of Anatomists.
[40] Amos Bairoch,et al. The neXtProt knowledgebase on human proteins: 2017 update , 2016, Nucleic Acids Res..
[41] Modesto Orozco,et al. PMUT: a web-based tool for the annotation of pathological mutations on proteins , 2005, Bioinform..
[42] W F Bodmer,et al. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. , 2001, American journal of human genetics.
[43] Haibin Li,et al. Genetic polymorphisms in bone morphogenetic protein receptor type IA gene predisposes individuals to ossification of the posterior longitudinal ligament of the cervical spine via the smad signaling pathway , 2018, BMC Musculoskeletal Disorders.
[44] Joachim Nickel,et al. Structure Analysis of Bone Morphogenetic Protein-2 Type I Receptor Complexes Reveals a Mechanism of Receptor Inactivation in Juvenile Polyposis Syndrome* , 2008, Journal of Biological Chemistry.
[45] David A. Johnson,et al. Analysis of Conformational Changes during Activation of Protein Kinase Pak2 by Amide Hydrogen/Deuterium Exchange* , 2008, Journal of Biological Chemistry.
[46] S. Chinnathambi,et al. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis , 2009, Clinical genetics.
[47] Gert Vriend,et al. New ways to boost molecular dynamics simulations , 2015, J. Comput. Chem..
[48] Predrag Radivojac,et al. Automated inference of molecular mechanisms of disease from amino acid substitutions , 2009, Bioinform..
[49] Steven Henikoff,et al. SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..
[50] Emidio Capriotti,et al. Bioinformatics Original Paper Predicting the Insurgence of Human Genetic Diseases Associated to Single Point Protein Mutations with Support Vector Machines and Evolutionary Information , 2022 .
[51] Burkhard Rost,et al. SNAP predicts effect of mutations on protein function , 2008, Bioinform..
[52] Hans Clevers,et al. De Novo Crypt Formation and Juvenile Polyposis on BMP Inhibition in Mouse Intestine , 2004, Science.
[53] T. Kirsch,et al. Crystal structure of the BMP-2–BRIA ectodomain complex , 2000, Nature Structural Biology.