Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach

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Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach is …
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P6179Dimensions Publication ID1042612684
P356DOI10.1007/S12010-012-0061-6
P698PubMed publication ID23329143

P2093author name stringC George Priya Doss
B Rajith
P2860cites workA catalog of neutral and deleterious polymorphism in yeastQ21563326
Structural basis for FGF receptor dimerization and activationQ22010544
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)Q24307426
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromeQ24314986
The selectivity of receptor tyrosine kinase signaling is controlled by a secondary SH2 domain binding siteQ24322529
MolProbity: all-atom contacts and structure validation for proteins and nucleic acidsQ24684673
The amino-acid mutational spectrum of human genetic diseaseQ24793270
SRide: a server for identifying stabilizing residues in proteinsQ24812573
Crystallography & NMR System: A New Software Suite for Macromolecular Structure DeterminationQ26778405
Automated NOESY interpretation with ambiguous distance restraints: the refined NMR solution structure of the pleckstrin homology domain from beta-spectrinQ27739804
SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modelingQ27860614
HADDOCK: a protein-protein docking approach based on biochemical or biophysical informationQ27860814
A method and server for predicting damaging missense mutationsQ27860835
ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acidsQ27860850
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeQ50336618
Stabilization centers in proteins: identification, characterization and predictions.Q52254889
Calculation of protein structures with ambiguous distance restraints. Automated assignment of ambiguous NOE crosspeaks and disulphide connectivities.Q52350736
Deregulation of FGFR1 and CDK6 oncogenic pathways in acute lymphoblastic leukaemia harbouring epigenetic modifications of the MIR9 family.Q54570256
GROMACS 4:  Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular SimulationQ27860944
Interaction between emerin and nuclear laminsQ28199938
Huntingtin aggregation and toxicity in Huntington's diseaseQ28204163
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisQ28277862
Genetic association and gene expression analysis identify FGFR1 as a new susceptibility gene for human obesityQ28571935
SIFT: Predicting amino acid changes that affect protein functionQ29547211
Patterns of somatic mutation in human cancer genomesQ29547841
The HADDOCK web server for data-driven biomolecular dockingQ29617755
Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain.Q30341245
A comparative study of the relationship between protein structure and beta-aggregation in globular and intrinsically disordered proteins.Q30342690
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.Q30356957
A three-state prediction of single point mutations on protein stability changes.Q30368637
Performance of protein stability predictors.Q30386719
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedQ30401706
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approachQ30407274
SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomasQ30491937
Computational refinement of functional single nucleotide polymorphisms associated with ATM geneQ31056468
AGGRESCAN: a server for the prediction and evaluation of "hot spots" of aggregation in polypeptidesQ33275645
Computational modeling of protein mutant stability: analysis and optimization of statistical potentials and structural features reveal insights into prediction model developmentQ33294495
On the use of low-frequency normal modes to enforce collective movements in refining macromolecular structural modelsQ33781791
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephalyQ33933091
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongationQ33938586
Fibroblast growth factors in the developing central nervous systemQ34291413
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypesQ34568239
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadismQ34597433
SNAP predicts effect of mutations on protein functionQ34817429
Predicting the functional impact of protein mutations: application to cancer genomicsQ35224321
Fibroblast growth factor 1 (FGFR1) modulation regulates repair capacity of oligodendrocyte progenitor cells following chronic demyelinationQ35577292
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadismQ37417487
Prioritization of candidate SNPs in colon cancer using bioinformatics tools: an alternative approach for a cancer biologistQ37820437
Multi-SNP analysis of MHC region: remarkable conservation of HLA-A1-B8-DR3 haplotypeQ40330077
NOMAD-Ref: visualization, deformation and refinement of macromolecular structures based on all-atom normal mode analysisQ42553727
Understanding human disease mutations through the use of interspecific genetic variationQ43572665
Exploring the sequence determinants of amyloid structure using position-specific scoring matricesQ44106880
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).Q48508378
SCide: identification of stabilization centers in proteinsQ48614566
Solvent accessible surface area and excluded volume in proteins. Analytical equations for overlapping spheres and implications for the hydrophobic effectQ48987243
P433issue5
P921main subjectcomputational biologyQ177005
P304page(s)1659-1671
P577publication date2013-01-19
P1433published inApplied Biochemistry and BiotechnologyQ15753885
P1476titleDisease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach
P478volume169