Haemophilia B: database of point mutations and short additions and deletions--eighth edition.
about
Crystal structure of the calcium-stabilized human factor IX Gla domain bound to a conformation-specific anti-factor IX antibodyThe Canadian "National Program for hemophilia mutation testing" database: a ten-year reviewInsight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B.In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.Large-scale computational identification of regulatory SNPs with rSNP-MAPPER.A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling.Biochemical defects of mutant nudel alleles causing early developmental arrest or dorsalization of the Drosophila embryoMolecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster.A mutation spectra database for bacterial and mammalian genes: 1998.Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways.A brief historical review of the waterfall/cascade of blood coagulation.Mutation analysis of a cohort of US patients with hemophilia B.Modulation of tolerance to the transgene product in a nonhuman primate model of AAV-mediated gene transfer to liver.Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein FunctionGenetic risk factors for inhibitors to factors VIII and IX.Genetics of coagulation: considerations for cardiac surgery.The CDC Hemophilia B mutation project mutation list: a new online resource.Clinical advances in hemophilia management.RNA-based therapeutic approaches for coagulation factor deficiencies.The N-terminal epidermal growth factor-like domain of coagulation factor IX. Probing its functions in the activation of factor IX and factor X with a monoclonal antibody.Surface-loop residue Lys316 in blood coagulation Factor IX is a major determinant for Factor X but not antithrombin recognition.Physiological fIXa activation involves a cooperative conformational rearrangement of the 99-loop.Nonacog gamma, a novel recombinant factor IX with low factor IXa content for treatment and prophylaxis of bleeding episodes.Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiencyImpact of the underlying mutation and the route of vector administration on immune responses to factor IX in gene therapy for hemophilia B.The enhancing effects of the light chain on heavy chain secretion in split delivery of factor VIII gene.Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.Regions 301-303 and 333-339 in the catalytic domain of blood coagulation factor IX are factor VIII-interactive sites involved in stimulation of enzyme activity.Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.Gene therapy for hemophilia: the clot thickens.A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects.Identification of functionally important residues of the epidermal growth factor-2 domain of factor IX by alanine-scanning mutagenesis. Residues Asn(89)-Gly(93) are critical for binding factor VIIIa.Transgene expression levels and kinetics determine risk of humoral immune response modeled in factor IX knockout and missense mutant mice.Preclinical safety and efficacy of a new recombinant FIX drug product for treatment of hemophilia B.A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis.
P2860
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P2860
Haemophilia B: database of point mutations and short additions and deletions--eighth edition.
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Haemophilia B: database of poi ...... and deletions--eighth edition.
@ast
Haemophilia B: database of poi ...... and deletions--eighth edition.
@en
Haemophilia B: database of poi ...... and deletions--eighth edition.
@nl
type
label
Haemophilia B: database of poi ...... and deletions--eighth edition.
@ast
Haemophilia B: database of poi ...... and deletions--eighth edition.
@en
Haemophilia B: database of poi ...... and deletions--eighth edition.
@nl
prefLabel
Haemophilia B: database of poi ...... and deletions--eighth edition.
@ast
Haemophilia B: database of poi ...... and deletions--eighth edition.
@en
Haemophilia B: database of poi ...... and deletions--eighth edition.
@nl
P2093
P2860
P921
P356
P1476
Haemophilia B: database of poi ...... and deletions--eighth edition.
@en
P2093
Brownlee GG
Figueiredo MS
Giannelli F
Goossens M
Reitsma PH
P2860
P304
P356
10.1093/NAR/26.1.265
P407
P577
1998-01-01T00:00:00Z