Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease (Q28589643)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

SRY (sex determining region Y)-box 10

11 January 2020

main subject

1 reference

GOA release 2020-03-11

author

Karl Broman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

E. Michelle Southard-Smith

11 January 2020

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

author name string

Tim Wiltshire

3

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Sarah E Owens

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

J Bradford Elmore

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Kevin M Bradley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Jeffrey R Smith

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

publication date

20 April 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

published in

Human Molecular Genetics

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

volume

14

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

page(s)

1549-1558

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

issue

11

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

11 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

Hirschsprung disease is linked to defects in neural crest stem cell function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

SOX10 Maintains Multipotency and Inhibits Neuronal Differentiation of Neural Crest Stem Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

Genetic dissection of complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

The melanocortin-1 receptor gene mediates female-specific mechanisms of analgesia in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

A single rostrocaudal colonization of the rodent intestine by enteric neuron precursors is revealed by the expression of Phox2b, Ret, and p75 and by explants grown under the kidney capsule or in organ culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

R/qtl: QTL mapping in experimental crosses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

Use of a dense single nucleotide polymorphism map for in silico mapping in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI163

21 January 2018

Identifiers

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15843399%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

2 references

31 January 2017