Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis (Q35061914)

6 August 2017

title

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

1 reference

6 August 2017

1 reference

Gabe E Haller

8

0 references

Erin E Baschal

object named as

Erin E Baschal

1

0 references

Nelson Leung-Sang Tang

object named as

Nelson L S Tang

6

0 references

author name string

Cambria I Wethey

2

1 reference

6 August 2017

Kandice Swindle

3

1 reference

6 August 2017

Robin M Baschal

4

1 reference

6 August 2017

Katherine Gowan

5

1 reference

6 August 2017

David M Alvarado

7

1 reference

6 August 2017

Matthew B Dobbs

9

1 reference

6 August 2017

Matthew R G Taylor

10

1 reference

6 August 2017

Christina A Gurnett

11

1 reference

6 August 2017

Kenneth L Jones

12

1 reference

6 August 2017

Nancy H Miller

13

1 reference

6 August 2017

publication date

12 December 2014

1 reference

6 August 2017

1 reference

6 August 2017

volume

5

1 reference

6 August 2017

issue

2

1 reference

6 August 2017

page(s)

167-174

1 reference

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

An integrated map of genetic variation from 1,092 human genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Primer3--new capabilities and interfaces

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

A framework for variation discovery and genotyping using next-generation DNA sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

New disease gene location and high genetic heterogeneity in idiopathic scoliosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Fast and SNP-tolerant detection of complex variants and splicing in short reads

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Males with familial idiopathic scoliosis: a distinct phenotypic subgroup

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

A novel locus for adolescent idiopathic scoliosis on chromosome 12p

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Perlecan--a multifunctional extracellular proteoglycan scaffold.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Enhancements and modifications of primer design program Primer3.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Adolescent idiopathic scoliosis: natural history and long term treatment effects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Endorepellin causes endothelial cell disassembly of actin cytoskeleton and focal adhesions through alpha2beta1 integrin.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Localization of susceptibility to familial idiopathic scoliosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

The protein core of the proteoglycan perlecan binds specifically to fibroblast growth factor-7

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Perlecan maintains the integrity of cartilage and some basement membranes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Perlecan is essential for cartilage and cephalic development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

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 epitope

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Structural and cell-adhesive properties of three recombinant fragments derived from perlecan domain III.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Genetic aspects of idiopathic scoliosis. A Nicholas Andry Award essay, 1970.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

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 epidermal

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Genetics of idiopathic scoliosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Genetics of adolescent idiopathic scoliosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

MutationTaster2: mutation prediction for the deep-sequencing age.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Genetic epidemiology and heritability of AIS: A study of 415 Chinese female patients.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Colocalization in vivo and association in vitro of perlecan and elastin.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321025

Adolescent Idiopathic Scoliosis in Twins

16 November 2018

1 reference

12 December 2020

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

1 reference

12 December 2020

Nonstandard vertebral rotation in scoliosis screening patients. Its prevalence and relation to the clinical deformity

1 reference

12 December 2020

Identification of candidate regions for familial idiopathic scoliosis

1 reference

12 December 2020

Identification of susceptibility loci for scoliosis in FIS families with triple curves

1 reference

12 December 2020

The incidence of scoliosis in the state of Delaware; a study of 50,000 minifilms of the chest made during a survey for tuberculosis

1 reference

12 December 2020

Scoliosis prevalence: a call for a statement of terms

1 reference

12 December 2020

Scoliosis in twins. A meta-analysis of the literature and report of six cases

1 reference

12 December 2020

Purification and concentration of DNA from aqueous solutions

1 reference

12 December 2020

Idiopathic scoliosis: identification of candidate regions on chromosome 19p13

1 reference

12 December 2020

Linkage analysis of genetic loci for kyphoscoliosis on chromosomes 5p13, 13q13.3, and 13q32

1 reference

12 December 2020

Confocal microscopy demonstrates association of LTBP-2 in fibrillin-1 microfibrils and colocalisation with perlecan in the disc cell pericellular matrix

1 reference

12 December 2020

Idiopathic scoliosis in twins studied by DNA fingerprinting: the incidence and type of scoliosis

1 reference

12 December 2020

A genetic survey of idiopathic scoliosis in Boston, Massachusetts

1 reference

12 December 2020

Identifiers

DOI

10.1534/G3.114.015669

1 reference

6 August 2017

1 reference

6 August 2017

1 reference