(Q52552380)

3 May 2018

title

Three Novel Mutations in SQSTM1 Identified in Familial Paget's Disease of Bone (English)

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Orthopedics and sports medicine

26 March 2024

main subject

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

26 March 2024

7

Robin J. Leach

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14584883

26 March 2024

author name string

Teresa L. Johnson-Pais

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14584883

26 March 2024

Julie H. Wisdom

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14584883

26 March 2024

Korri S. Weldon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14584883

26 March 2024

Jannine D. Cody

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14584883

26 March 2024

Marc F. Hansen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14584883

26 March 2024

Frederick R. Singer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14584883

26 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14584883

26 March 2024

publication date

1 October 2003

1 reference

3 May 2018

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1359%2Fjbmr.2003.18.10.1748

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

https://academic.oup.com/jbmr/article-pdf/18/10/1748/56469596/5650181004.pdf

26 March 2024

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Journal of Bone and Mineral Research

26 March 2024

published in

1 reference

3 May 2018

volume

18

1 reference

3 May 2018

issue

10

1 reference

3 May 2018

page(s)

1748-1753

1 reference

3 May 2018

Evidence for linkage between HLA and Paget's disease

cites work

2

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Genetic linkage of Paget disease of the bone to chromosome 18q

26 March 2024

3

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity

26 March 2024

4

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Paget disease of bone: mapping of two loci at 5q35-qter and 5q31.

26 March 2024

5

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35

26 March 2024

6

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Linkage of Paget disease of bone to a novel region on human chromosome 18q23.

26 March 2024

7

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

26 March 2024

8

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Mutation Screening of the TNFRSF11A Gene Encoding Receptor Activator of NFkB (RANK) in Familial and Sporadic Paget's Disease of Bone and Osteosarcoma

26 March 2024

9

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Evaluation of the role of RANK and OPG genes in Paget's disease of bone

26 March 2024

10

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

26 March 2024

11

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

26 March 2024

12

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

26 March 2024

13

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Bone marrow mononuclear cells from patients with Paget's disease contain measles virus nucleocapsid messenger ribonucleic acid that has mutations in a specific region of the sequence

26 March 2024

14

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Sequence analysis of measles virus nucleocapsid transcripts in patients with Paget's disease

26 March 2024

15

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

26 March 2024

17

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

Structure and functional properties of the ubiquitin binding protein p62

26 March 2024

18

1 reference

https://api.crossref.org/works/10.1359/JBMR.2003.18.10.1748

26 March 2024

Identifiers

1 reference

3 May 2018

1 reference

3 May 2018