(Q33960482)

30 July 2017

0 references

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. (English)

1 reference

30 July 2017

1 reference

osteogenesis imperfecta

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author

José A Caparrós-Martín

José A Caparrós-Martín

4

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Khalda S. Amr

Khalda Amr

9

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Mona S Aglan

Mona Aglan

2

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Victor L Ruiz-Perez

Victor L Ruiz-Perez

11

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Victor Martínez-Glez

Victor Martínez-Glez

7

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Samia A Temtamy

Samia Temtamy

3

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author name string

Pablo Lapunzina

1

1 reference

30 July 2017

Maria Valencia

5

1 reference

30 July 2017

Rocío Letón

6

1 reference

30 July 2017

Rasha Elhossini

8

1 reference

30 July 2017

Nuria Vilaboa

10

1 reference

30 July 2017

language of work or name

English

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publication date

24 June 2010

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

87

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30 July 2017

1

1 reference

30 July 2017

110-114

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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Postnatally induced inactivation of Osterix in osteoblasts results in the reduction of bone formation and maintenance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

PPIB mutations cause severe osteogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Biochemical characterization of the prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B complex.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

New sequence variants associated with bone mineral density

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

The importance of proline residues in the structure, stability and susceptibility to proteolytic degradation of collagens

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Mammalian SP/KLF transcription factors: bring in the family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Procollagen trafficking, processing and fibrillogenesis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Molecular cloning, structure, expression, and chromosomal localization of the human Osterix (SP7) gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Expression of alternatively spliced isoforms of human Sp7 in osteoblast-like cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Selection of DNA binding sites for zinc fingers using rationally randomized DNA reveals coded interactions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Base sequence discrimination by zinc-finger DNA-binding domains.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Zinc finger-DNA recognition: analysis of base specificity by site-directed mutagenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Genetic heterogeneity in osteogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896769

Finger-positional change in three zinc finger protein Sp1: influence of terminal finger in DNA recognition

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20579626

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Osteogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20579626

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Unique DNA binding mode of the N-terminal zinc finger of transcription factor Sp1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20579626

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.05.016

1 reference

30 July 2017

1 reference

30 July 2017

1 reference