(Q35689806)

9 August 2017

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Recessive osteogenesis imperfecta caused by missense mutations in SPARC. (English)

1 reference

9 August 2017

osteogenesis imperfecta

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2

Somayyeh Fahiminiya

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Klaus Klaushofer

13

object named as

Klaus Klaushofer

1 reference

9 August 2017

Roberto Mendoza-Londono

1

1 reference

9 August 2017

Somayyeh Fahiminiya

2

1 reference

9 August 2017

Jacek Majewski

3

1 reference

9 August 2017

Care4Rare Canada Consortium

4

1 reference

9 August 2017

Martine Tétreault

5

1 reference

9 August 2017

Javad Nadaf

6

1 reference

9 August 2017

Peter Kannu

7

1 reference

9 August 2017

Etienne Sochett

8

1 reference

9 August 2017

Andrew Howard

9

1 reference

9 August 2017

Jennifer Stimec

10

1 reference

9 August 2017

Lucie Dupuis

11

1 reference

9 August 2017

Paul Roschger

12

1 reference

9 August 2017

Telma Palomo

14

1 reference

9 August 2017

Jean Ouellet

15

1 reference

9 August 2017

Hadil Al-Jallad

16

1 reference

9 August 2017

John S Mort

17

1 reference

9 August 2017

Pierre Moffatt

18

1 reference

9 August 2017

Sergei Boudko

19

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9 August 2017

Hans-Peter Bächinger

20

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9 August 2017

Frank Rauch

21

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9 August 2017

language of work or name

English

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publication date

28 May 2015

1 reference

American Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

96

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9 August 2017

979-985

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9 August 2017

6

1 reference

A single nucleotide polymorphism in osteonectin 3' untranslated region regulates bone volume and is targeted by miR-433

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Revisiting the matricellular concept

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Molecular mechanisms underlying the divergent roles of SPARC in human carcinogenesis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

New genes in bone development: what's new in osteogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

A molecular ensemble in the rER for procollagen maturation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Mutations in WNT1 cause different forms of bone fragility

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

The Function of SPARC as a Mediator of Fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Diverse biological functions of the SPARC family of proteins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

New perspectives on osteogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

MutationTaster evaluates disease-causing potential of sequence alterations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

A method and server for predicting damaging missense mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

SPARC: a key player in the pathologies associated with obesity and diabetes.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Structural basis of sequence-specific collagen recognition by SPARC

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Bone mineralization density distribution in health and disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Osteonectin/SPARC polymorphisms in Caucasian men with idiopathic osteoporosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Is SPARC an evolutionarily conserved collagen chaperone?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

SPARC-null mice exhibit increased adiposity without significant differences in overall body weight

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Osteopenia and decreased bone formation in osteonectin-deficient mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Crystal structure and mapping by site-directed mutagenesis of the collagen-binding epitope of an activated form of BM-40/SPARC/osteonectin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Distribution of osteonectin mRNA and protein during human embryonic and fetal development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

SPARC is expressed by macroglia and microglia in the developing and mature nervous system

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Targeted deletion of the SPARC gene accelerates disc degeneration in the aging mouse

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Mice deficient for the secreted glycoprotein SPARC/osteonectin/BM40 develop normally but show severe age-onset cataract formation and disruption of the lens

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457955

Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI

25 September 2018

1 reference

12 December 2020

SPARC regulates processing of procollagen I and collagen fibrillogenesis in dermal fibroblasts

1 reference

12 December 2020

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations

1 reference

12 December 2020

Osteonectin content in human osteogenesis imperfecta bone shows a range similar to that of two bovine models of OI

1 reference

12 December 2020

Mutations in WNT1 are a cause of osteogenesis imperfecta

1 reference

12 December 2020

10.1016/J.AJHG.2015.04.021

Identifiers

DOI

1 reference

9 August 2017

1 reference

9 August 2017

1 reference