Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women (Q24599843)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19727905%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19727905%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19727905%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

A W C Kung

1 reference

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6 February 2020

Q-Y Huang

series ordinal

1 reference

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6 February 2020

language of work or name

English

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publication date

1 September 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19727905%20AND%20SRC:MED&resulttype=core&format=json

Osteoporosis International

6 February 2020

published in

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6 February 2020

volume

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6 February 2020

issue

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6 February 2020

page(s)

1009-1020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19727905%20AND%20SRC:MED&resulttype=core&format=json

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

6 February 2020

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1 reference

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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

24 March 2017

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A second generation human haplotype map of over 3.1 million SNPs

24 March 2017

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Genome-wide association with bone mass and geometry in the Framingham Heart Study

24 March 2017

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Mutations in FLNB cause boomerang dysplasia

24 March 2017

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The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis

24 March 2017

1 reference

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New sequence variants associated with bone mineral density

24 March 2017

1 reference

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CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

24 March 2017

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24 March 2017

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Assessment of fracture risk and its application to screening for postmenopausal osteoporosis. Report of a WHO Study Group

24 March 2017

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24 March 2017

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MatInspector and beyond: promoter analysis based on transcription factor binding sites

7 April 2017

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7 April 2017

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Induction and activation of the transcription factor NFATc1 (NFAT2) integrate RANKL signaling in terminal differentiation of osteoclasts

7 April 2017

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Gains in power for exhaustive analyses of haplotypes using variable-sized sliding window strategy: a comparison of association-mapping strategies.

7 April 2017

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Identification of a role for the ARHGEF3 gene in postmenopausal osteoporosis

27 September 2017

1 reference

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Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

27 September 2017

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Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

27 September 2017

1 reference

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Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development

27 September 2017

1 reference

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Association mapping via regularized regression analysis of single-nucleotide-polymorphism haplotypes in variable-sized sliding windows

27 September 2017

1 reference

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Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Molecular backgrounds of age-related osteoporosis from mouse genetics approaches

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Genomic regions identified for BMD in a large sample including epistatic interactions and gender-specific effects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

NFAT and Osterix cooperatively regulate bone formation

27 September 2017

1 reference

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A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases.

27 September 2017

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Differentiation of Caucasians and Chinese at bone mass candidate genes: implication for ethnic difference of bone mass.

27 September 2017

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Comparison of genome screens for two independent cohorts provides replication of suggestive linkage of bone mineral density to 3p21 and 1p36.

27 September 2017

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The power to detect linkage disequilibrium with quantitative traits in selected samples

27 September 2017

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Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese.

27 September 2017

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The deleterious effects of long-term cyclosporine A, cyclosporine G, and FK506 on bone mineral metabolism in vivo.

30 May 2018

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The association of Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma gene with serum osteoprotegerin levels in healthy Korean women

30 May 2018

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Multiple genetic loci for bone mineral density and fractures

21 January 2018

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Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

PTHR1 Polymorphisms Influence BMD Variation through Effects on the Growing Skeleton

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Quantitative trait loci for BMD identified by autosome-wide linkage scan to chromosomes 7q and 21q in men from the Amish Family Osteoporosis Study.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Effect of environmental factors and gender on the heritability of bone mineral density and bone size

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Mutations in two regions of FLNB result in atelosteogenesis I and III.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Tests of linkage and association of PTH/PTHrP receptor type 1 gene with bone mineral density and height in Caucasians

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Genetic determination and correlation of body mass index and bone mineral density at the spine and hip in Chinese Han ethnicity

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis

28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2946578

28 November 2018

Genetics of osteoporosis

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12 December 2020

Osteoporosis after organ transplantation

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12 December 2020

Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia

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12 December 2020

Association of bone mineral density with a polymorphism of the peroxisome proliferator-activated receptor gamma gene: PPARgamma expression in osteoblasts

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12 December 2020

The effects of C161→T polymorphisms in exon 6 of peroxisome proliferator-activated receptor-γ gene on bone mineral metabolism and serum osteoprotegerin levels in healthy middle-aged women

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12 December 2020

Meta-analysis of genome-wide linkage studies for bone mineral density

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12 December 2020

Prediction of osteoporosis candidate genes by computational disease-gene identification strategy

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12 December 2020

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19727905%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19727905%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

19727905

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19727905%20AND%20SRC:MED&resulttype=core&format=json