A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta (Q21092456)

15 August 2022

10

Tosso Leeb

Tosso

Leeb

1 reference

15 August 2022

Doreen Becker

2

Doreen

Becker

1 reference

15 August 2022

Patrick Kircher

5

Patrick

Kircher

1 reference

15 August 2022

Cord Drögemüller

1

Cord

Drögemüller

1 reference

15 August 2022

4

Bianca

Haase

Bianca Haase

1 reference

15 August 2022

Adrian Brunner

3

Adrian

Brunner

1 reference

15 August 2022

Frank Seeliger

series ordinal

6

author given names

Frank

author last names

Seeliger

1 reference

15 August 2022

Michael Fehr

series ordinal

7

author given names

Michael

author last names

Fehr

1 reference

15 August 2022

Ulrich Baumann

series ordinal

8

author given names

Ulrich

author last names

Baumann

1 reference

Creative Commons Attribution 4.0 International

15 August 2022

language of work or name

English

0 references

publication date

July 2009

0 references

published in

PLOS Genetics

0 references

volume

5

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issue

7

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page(s)

e1000579

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copyright license

start time

24 July 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Canonical inhibitor-like interactions explain reactivity of alpha1-proteinase inhibitor Pittsburgh and antithrombin with proteinases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Embryonic lethality of molecular chaperone hsp47 knockout mice is associated with defects in collagen biosynthesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Leader of the pack: gene mapping in dogs and other model organisms

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Procollagen triple helix assembly: an unconventional chaperone-assisted folding paradigm

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Type I collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in N-propeptide processing and fibrillogenesis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Identification of small molecule chemical inhibitors of the collagen-specific chaperone Hsp47.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

12 September 2017

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Enhancement of protein modeling by human intervention in applying the automatic programs 3D-JIGSAW and 3D-PSSM.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Implications of the three-dimensional structure of alpha 1-antitrypsin for structure and function of serpins

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Specific recognition of the collagen triple helix by chaperone HSP47. II. The HSP47-binding structural motif in collagens and related proteins

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Mapping Hsp47 binding site(s) using CNBr peptides derived from type I and type II collagen

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708911

Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000579

Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000579

Osteogenesis imperfecta in two litters of dachshunds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000579

Specific recognition of the collagen triple helix by chaperone HSP47: minimal structural requirement and spatial molecular orientation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000579

Domain fishing: a first step in protein comparative modelling

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000579

Osteogenesis imperfecta in 2 collie litter siblings

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19629171

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1000579

0 references

PMC publication ID

2708911

0 references