A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait (Q24561917)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11741193%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

title

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait (English)

1 reference

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4 December 2019

4

1 reference

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4 December 2019

Xavier Nogués

26

1 reference

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4 December 2019

Xavier Nogués

27

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4 December 2019

author name string

Randall D Little

1

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4 December 2019

John P Carulli

2

1 reference

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4 December 2019

Richard G Del Mastro

3

1 reference

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4 December 2019

Mark Osborne

5

1 reference

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4 December 2019

Colleen Folz

6

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4 December 2019

Susan P Manning

7

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4 December 2019

Pamela M Swain

8

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4 December 2019

Shan-Chuan Zhao

9

1 reference

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4 December 2019

Brenda Eustace

10

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4 December 2019

Michelle M Lappe

11

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4 December 2019

Lia Spitzer

12

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4 December 2019

Susan Zweier

13

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4 December 2019

Karen Braunschweiger

14

1 reference

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4 December 2019

Youssef Benchekroun

15

1 reference

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4 December 2019

Xintong Hu

16

1 reference

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4 December 2019

Ronald Adair

17

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4 December 2019

Linda Chee

18

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4 December 2019

Michael G FitzGerald

19

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4 December 2019

Craig Tulig

20

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4 December 2019

Anthony Caruso

21

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4 December 2019

Nia Tzellas

22

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4 December 2019

Alicia Bawa

23

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4 December 2019

Barbara Franklin

24

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4 December 2019

Shannon McGuire

25

1 reference

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4 December 2019

Gordon Gong

28

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4 December 2019

Kristina M Allen

29

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4 December 2019

Anthony Anisowicz

30

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4 December 2019

Arturo J Morales

31

1 reference

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4 December 2019

Peter T Lomedico

32

1 reference

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4 December 2019

Susan M Recker

33

1 reference

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4 December 2019

Paul Van Eerdewegh

34

1 reference

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4 December 2019

Robert R Recker

35

1 reference

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4 December 2019

Mark L Johnson

36

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4 December 2019

language of work or name

English

0 references

publication date

3 December 2001

1 reference

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American Journal of Human Genetics

4 December 2019

published in

1 reference

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4 December 2019

volume

70

1 reference

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4 December 2019

page(s)

11-19

1 reference

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4 December 2019

issue

1

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4 December 2019

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Molecular cloning and characterization of LR3, a novel LDL receptor family protein with mitogenic activity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Consed: a graphical tool for sequence finishing

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Identification of common molecular subsequences

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Cloning of a novel member of the low-density lipoprotein receptor family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

An LDL-receptor-related protein mediates Wnt signalling in mice

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

arrow encodes an LDL-receptor-related protein essential for Wingless signalling

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Breaking down bone strength: a perspective on the future of skeletal genetics.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

The mammalian low-density lipoprotein receptor family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Identification of protein coding regions in the human genome by quadratic discriminant analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Allele frequency estimation from data on relatives

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Linkage of a QTL contributing to normal variation in bone mineral density to chromosome 11q12-13.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

A new low density lipoprotein receptor related protein, LRP5, is expressed in hepatocytes and adrenal cortex, and recognizes apolipoprotein E.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419982

Isolation of coding sequences from genomic regions using direct selection

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11741193

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11741193

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/338450

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11741193%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11741193%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

2 references