Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis

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Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis is …
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scholarly articleQ13442814

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P356DOI10.1534/G3.114.015669
P932PMC publication ID4321025
P698PubMed publication ID25504735
P5875ResearchGate publication ID269715917

P50authorNelson Leung-Sang TangQ37839560
Erin E BaschalQ55271263
Gabe HallerQ55948545
P2093author name stringMatthew R G Taylor
Kenneth L Jones
David M Alvarado
Christina A Gurnett
Matthew B Dobbs
Katherine Gowan
Nancy H Miller
Kandice Swindle
Cambria I Wethey
Robin M Baschal
P2860cites workAn integrated map of genetic variation from 1,092 human genomesQ22122153
Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosisQ24310509
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasiaQ24563749
Perlecan maintains the integrity of cartilage and some basement membranesQ24680954
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
The protein core of the proteoglycan perlecan binds specifically to fibroblast growth factor-7Q28145823
Perlecan is essential for cartilage and cephalic developmentQ28146148
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11Q28208125
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisQ28240167
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosisQ28290491
WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecanQ28512220
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataQ29547161
A framework for variation discovery and genotyping using next-generation DNA sequencing dataQ29547262
Primer3--new capabilities and interfacesQ29614816
Genetics of adolescent idiopathic scoliosisQ33588386
Males with familial idiopathic scoliosis: a distinct phenotypic subgroupQ33599977
Fast and SNP-tolerant detection of complex variants and splicing in short readsQ33751343
A novel locus for adolescent idiopathic scoliosis on chromosome 12pQ33995653
Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2.Q34009591
New disease gene location and high genetic heterogeneity in idiopathic scoliosis.Q34170982
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicineQ34374148
Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage developmentQ34561439
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.Q34627021
Adolescent idiopathic scoliosis: natural history and long term treatment effectsQ34666413
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.Q34713545
CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.Q35752651
Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junctionQ36321503
Endorepellin causes endothelial cell disassembly of actin cytoskeleton and focal adhesions through alpha2beta1 integrin.Q36322054
Perlecan--a multifunctional extracellular proteoglycan scaffold.Q36795158
Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q.Q37089296
A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.Q37218363
Enhancements and modifications of primer design program Primer3.Q40230955
Structural and cell-adhesive properties of three recombinant fragments derived from perlecan domain III.Q41152958
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictionsQ42059080
Colocalization in vivo and association in vitro of perlecan and elastin.Q42493535
Primary structure of the human heparan sulfate proteoglycan from basement membrane (HSPG2/perlecan). A chimeric molecule with multiple domains homologous to the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermalQ42610425
Localization of susceptibility to familial idiopathic scoliosisQ42633639
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndromeQ42832135
Mapping of the binding of platelet-derived growth factor to distinct domains of the basement membrane proteins BM-40 and perlecan and distinction from the BM-40 collagen-binding epitopeQ47733259
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).Q47810194
Familial idiopathic scoliosis: evidence of an X-linked susceptibility locusQ48028860
Genetic aspects of idiopathic scoliosis. A Nicholas Andry Award essay, 1970.Q48424195
Genetics of idiopathic scoliosisQ50862432
A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.Q50998791
Genetic epidemiology and heritability of AIS: A study of 415 Chinese female patients.Q51357788
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.Q52137443
MutationTaster2: mutation prediction for the deep-sequencing age.Q52877992
Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndromeQ57639997
Adolescent Idiopathic Scoliosis in TwinsQ61567102
Confocal microscopy demonstrates association of LTBP-2 in fibrillin-1 microfibrils and colocalisation with perlecan in the disc cell pericellular matrixQ62924436
Scoliosis prevalence: a call for a statement of termsQ67052232
A genetic survey of idiopathic scoliosis in Boston, MassachusettsQ69621307
Nonstandard vertebral rotation in scoliosis screening patients. Its prevalence and relation to the clinical deformityQ70323254
Scoliosis in twins. A meta-analysis of the literature and report of six casesQ73719623
The incidence of scoliosis in the state of Delaware; a study of 50,000 minifilms of the chest made during a survey for tuberculosisQ73851912
Idiopathic scoliosis in twins studied by DNA fingerprinting: the incidence and type of scoliosisQ74452743
Idiopathic scoliosis: identification of candidate regions on chromosome 19p13Q79918019
Purification and concentration of DNA from aqueous solutionsQ80674041
Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtelQ81431632
Identification of candidate regions for familial idiopathic scoliosisQ81753467
Linkage analysis of genetic loci for kyphoscoliosis on chromosomes 5p13, 13q13.3, and 13q32Q83096196
Identification of susceptibility loci for scoliosis in FIS families with triple curvesQ83970666
P433issue2
P921main subjectscoliosisQ174857
P304page(s)167-174
P577publication date2014-12-12
P1433published inG3Q5512701
P1476titleExome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis
P478volume5