(Q21144921)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

19

Tosso Leeb

Tosso

Leeb

1 reference

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29 January 2020

4

Samantha A Brooks

Samantha A

Brooks

1 reference

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29 January 2020

6

Cord Drögemüller

Cord

Drögemüller

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

9

Jozef Janda

Jozef

Janda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Jacqueline M Matthews

12

object named as

Jacqueline M Matthews

Jacqueline M

Matthews

1 reference

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29 January 2020

15

Teruaki Tozaki

Teruaki

Tozaki

1 reference

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29 January 2020

2

Bianca

Haase

Bianca Haase

1 reference

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29 January 2020

8

Diana

Henke

Diana Henke

1 reference

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29 January 2020

18

Stefan

Rieder

Stefan Rieder

1 reference

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29 January 2020

Regula Hauswirth

1

Regula

Hauswirth

1 reference

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29 January 2020

Marlis Blatter

3

Marlis

Blatter

1 reference

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29 January 2020

Dominik Burger

5

Dominik

Burger

1 reference

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29 January 2020

Vincent Gerber

7

Vincent

Gerber

1 reference

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29 January 2020

Rony Jude

10

Rony

Jude

1 reference

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29 January 2020

K Gary Magdesian

11

K Gary

Magdesian

1 reference

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29 January 2020

Pierre-André Poncet

13

Pierre-André

Poncet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Vilhjálmur Svansson

14

Vilhjálmur

Svansson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Lorna Wilkinson-White

16

Lorna

Wilkinson-White

1 reference

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29 January 2020

M Cecilia T Penedo

17

M Cecilia T

Penedo

1 reference

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29 January 2020

language of work or name

English

0 references

publication date

12 April 2012

1 reference

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29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

volume

8

1 reference

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29 January 2020

issue

4

1 reference

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29 January 2020

page(s)

e1002653

1 reference

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Creative Commons Attribution 4.0 International

29 January 2020

copyright license

start time

12 April 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Allelic heterogeneity at the equine KIT locus in dominant white (W) horses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

PLINK: a tool set for whole-genome association and population-based linkage analyses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Structural basis of simultaneous recruitment of the transcriptional regulators LMO2 and FOG1/ZFPM1 by the transcription factor GATA1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

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=3325211

Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Exon skipping in the KIT gene causes a Sabino spotting pattern in horses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

PAX3 is expressed in human melanomas and contributes to tumor cell survival

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

The secreted metalloprotease ADAMTS20 is required for melanoblast survival

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Five novel KIT mutations in horses with white coat colour phenotypes.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Review and update of mutations causing Waardenburg syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Seven novel KIT mutations in horses with white coat colour phenotypes.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

The making of a melanocyte: the specification of melanoblasts from the neural crest

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Efficient mapping of mendelian traits in dogs through genome-wide association

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Melanocytes and the microphthalmia transcription factor network

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Mouse models for four types of Waardenburg syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

Common white facial markings in bay and chestnut Arabian horses and their hybrids

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325211

The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene

12 September 2017

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002653

FOXD3 regulates the lineage switch between neural crest-derived glial cells and pigment cells by repressing MITF through a non-canonical mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002653

Evolutionary sequence comparison of the Mitf gene reveals novel conserved domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002653

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002653

10.1371/JOURNAL.PGEN.1002653

21 January 2018

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

22511888

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22511888%20AND%20SRC:MED&resulttype=core&format=json