Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome
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Title
Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome
Authors
Keywords
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Journal
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
Volume -, Issue -, Pages 1-14
Publisher
Informa UK Limited
Online
2019-09-23
DOI
10.1080/07391102.2019.1671899
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- (2018) Morteza Seifi et al. PLoS One
- Molecular designing, virtual screening and docking study of novel curcumin analogue as mutation (S769L and K846R) selective inhibitor for EGFR
- (2018) Noor Ahmad Shaik et al. SAUDI JOURNAL OF BIOLOGICAL SCIENCES
- Deficiency of Carbonic Anhydrase II Results in a Urinary Concentrating Defect
- (2018) Devishree Krishnan et al. Frontiers in Physiology
- Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD)
- (2018) Fahad A. Al-Abbasi et al. Frontiers in Genetics
- A phenotype centric benchmark of variant prioritisation tools
- (2018) Denise Anderson et al. npj Genomic Medicine
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Expanded Somatic Mutation Spectrum of MED12 Gene in Uterine Leiomyomas of Saudi Arabian Women
- (2018) Ghada M. A. Ajabnoor et al. Frontiers in Genetics
- Crystal structure of the human carbonic anhydrase II adduct with 1-(4-sulfamoylphenyl-ethyl)-2,4,6-triphenylpyridinium perchlorate, a membrane-impermeant, isoform selective inhibitor
- (2017) Vincenzo Alterio et al. JOURNAL OF ENZYME INHIBITION AND MEDICINAL CHEMISTRY
- Decoding disease-causing mechanisms of missense mutations from supramolecular structures
- (2017) Atsushi Hijikata et al. Scientific Reports
- PyMod 2.0: improvements in protein sequence-structure analysis and homology modeling within PyMOL
- (2016) Giacomo Janson et al. BIOINFORMATICS
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- (2016) Evan J. Myers et al. JOURNAL OF PHYSIOLOGY-LONDON
- M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
- (2016) Karthik A Jagadeesh et al. NATURE GENETICS
- The ExAC browser: displaying reference data information from over 60 000 exomes
- (2016) Konrad J. Karczewski et al. NUCLEIC ACIDS RESEARCH
- The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible
- (2016) Damian Szklarczyk et al. NUCLEIC ACIDS RESEARCH
- Genetic disruption of the pHi-regulating proteins Na+/H+ exchanger 1 (SLC9A1) and carbonic anhydrase 9 severely reduces growth of colon cancer cells
- (2016) Scott K. Parks et al. Oncotarget
- Characterization and Prediction of Protein Flexibility Based on Structural Alphabets
- (2016) Qiwen Dong et al. Biomed Research International
- Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations
- (2015) Ivone US Leong et al. BMC Medical Genetics
- Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families
- (2015) Qianqian Pang et al. METABOLIC BRAIN DISEASE
- YASARA View—molecular graphics for all devices—from smartphones to workstations
- (2014) Elmar Krieger et al. BIOINFORMATICS
- DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach
- (2014) D. E. V. Pires et al. NUCLEIC ACIDS RESEARCH
- GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit
- (2013) Sander Pronk et al. BIOINFORMATICS
- Structural dynamics flexibility informs function and evolution at a proteome scale
- (2013) Zeynep Nevin Gerek et al. Evolutionary Applications
- CABS-flex: server for fast simulation of protein structure fluctuations
- (2013) Michal Jamroz et al. NUCLEIC ACIDS RESEARCH
- Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
- (2012) Hashem A. Shihab et al. HUMAN MUTATION
- SIFT web server: predicting effects of amino acid substitutions on proteins
- (2012) Ngak-Leng Sim et al. NUCLEIC ACIDS RESEARCH
- Impact of the 237th Residue on the Folding of Human Carbonic Anhydrase II
- (2011) Ming-Jie Wu et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Familial Autosomal Recessive Renal Tubular Acidosis: Importance of Early Diagnosis
- (2011) Asaf Vivante et al. NEPHRON PHYSIOLOGY
- Protein structure validation by generalized linear model root-mean-square deviation prediction
- (2011) Anurag Bagaria et al. PROTEIN SCIENCE
- Structural and Kinetic Study of the Extended Active Site for Proton Transfer in Human Carbonic Anhydrase II
- (2010) John F. Domsic et al. BIOCHEMISTRY
- Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0
- (2009) Yves Dehouck et al. BIOINFORMATICS
- Thermodynamic Interrogation of a Folding Disease. Mutant Mapping of Position 107 in Human Carbonic Anhydrase II Linked to Marble Brain Disease
- (2008) Karin Almstedt et al. BIOCHEMISTRY
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