(Q42113738)

16 October 2017

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta (English)

1 reference

16 October 2017

osteogenesis imperfecta

0 references

author

Adebowale A. Adeyemo

3

1 reference

16 October 2017

Joan E Bailey-Wilson

12

0 references

Aileen M Barnes

object named as

Aileen M Barnes

2

0 references

Charles Rotimi

14

object named as

Charles N Rotimi

1 reference

16 October 2017

9

Sarah A Tishkoff

1 reference

16 October 2017

Wayne A Cabral

1

1 reference

16 October 2017

Kelly Cushing

4

1 reference

16 October 2017

David Chitayat

5

1 reference

16 October 2017

Forbes D Porter

6

1 reference

16 October 2017

Susan R Panny

7

1 reference

16 October 2017

Fizza Gulamali-Majid

8

1 reference

16 October 2017

Timothy R Rebbeck

10

1 reference

16 October 2017

Serigne M Gueye

11

1 reference

16 October 2017

Lawrence C Brody

13

1 reference

16 October 2017

Joan C Marini

15

1 reference

16 October 2017

language of work or name

English

0 references

publication date

26 January 2012

1 reference

16 October 2017

1 reference

16 October 2017

14

1 reference

16 October 2017

5

1 reference

16 October 2017

543-551

1 reference

https://scigraph.springernature.com/pub.10.1038/gim.2011.44

16 October 2017

0 references

cites work

Association of trypanolytic ApoL1 variants with kidney disease in African Americans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Location of 3-hydroxyproline residues in collagen types I, II, III, and V/XI implies a role in fibril supramolecular assembly

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

PPIB mutations cause severe osteogenesis imperfecta

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

A genome-wide association study of hypertension and blood pressure in African Americans

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

The genetic structure and history of Africans and African Americans

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

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.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in West Africans: The Africa America Diabetes Mellitus (AADM) Study

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Collagens, modifying enzymes and their mutations in humans, flies and worms

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Database for the mutations of the Finnish disease heritage

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Using linked markers to infer the age of a mutation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Osteogenesis imperfecta and non-accidental injury

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

The covalent structure of collagen. Amino-acid sequence of peptide 1-CB6-C2.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Genetic heterogeneity in osteogenesis imperfecta

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Osteogenesis imperfecta in a Nigerian neonate: a case report.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Methods for multipoint disease mapping using linkage disequilibrium.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3393768

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22281939

12 December 2020

inferred from PubMed ID database lookup

Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22281939

12 December 2020

inferred from PubMed ID database lookup

Osteogenesis imperfecta: a genetic, radiological, and epidemiological study.

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2011.44

7 January 2021

inferred from DOI database lookup

Birth prevalence rates of skeletal dysplasias.

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2011.44

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/GIM.2011.44

1 reference

Dimensions Publication ID

16 October 2017

0 references

1 reference

16 October 2017

PubMed publication ID

22281939

1 reference