(Q34292231)

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A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

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scholarly article

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Europe PubMed Central

1 August 2017

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A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus (English)

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Europe PubMed Central

1 August 2017

osteogenesis imperfecta

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object named as

Sandra Iden

7

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object named as

Oliver Semler

1

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object named as

Daniel Swan

4

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Stefan K. Bohlander

object named as

Stefan K Bohlander

12

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13

object named as

Bernd Wollnik

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Europe PubMed Central

1 August 2017

author name string

Lutz Garbes

2

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Europe PubMed Central

1 August 2017

Katharina Keupp

3

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Europe PubMed Central

1 August 2017

Katharina Zimmermann

5

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Europe PubMed Central

1 August 2017

Jutta Becker

6

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Europe PubMed Central

1 August 2017

Brunhilde Wirth

8

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Europe PubMed Central

1 August 2017

Peer Eysel

9

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Europe PubMed Central

1 August 2017

Friederike Koerber

10

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Europe PubMed Central

1 August 2017

Eckhard Schoenau

11

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Europe PubMed Central

1 August 2017

Christian Netzer

14

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1 August 2017

language of work or name

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publication date

2 August 2012

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Europe PubMed Central

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

1 August 2017

91

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Europe PubMed Central

1 August 2017

349-357

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Europe PubMed Central

1 August 2017

2

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Europe PubMed Central

1 August 2017

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

1 reference

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Rates and fitness consequences of new mutations in humans

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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

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Osteoblast-enriched membrane protein IFITM5 regulates the association of CD9 with an FKBP11-CD81-FPRP complex and stimulates expression of interferon-induced genes

1 reference

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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

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Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

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

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

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

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The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

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Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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1 reference

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Identifiers

10.1016/J.AJHG.2012.06.011

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Europe PubMed Central

1 August 2017

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Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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