(Q28263436)

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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Jesper Thorvald Troelsen

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Jonas Mengel-From

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Hans Eiberg

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Mette Nielsen

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Annemette Mikkelsen

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Klaus W Kjaer

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Lars Hansen

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

language of work or name

0 references

publication date

3 January 2008

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

123

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Europe PubMed Central

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31 December 2019

2

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Europe PubMed Central

PubMed publication ID

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31 December 2019

177-187

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-range chromatin regulatory interactions in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Melanosomal pH controls rate of melanogenesis, eumelanin/phaeomelanin ratio and melanosome maturation in melanocytes and melanoma cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organization and sequence of the human P gene and identification of a new family of transport proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Avoiding recomputation in linkage analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: in support of a unifying hypothesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replicated linkage for eye color on 15q using comparative ratings of sibling pairs

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combinatorial control of gene expression.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequences associated with human iris pigmentation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multilocus OCA2 genotypes specify human iris colors

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human pigmentation genes: identification, structure and consequences of polymorphic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage between serum cholinesterase 2 (CHE2) and gamma-crystallin gene cluster (CRYG): assignment to chromosome 2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An upstream polymorphism associated with lactase persistence has increased enhancer activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

P gene as an inherited biomarker of human eye color.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An enhancer activates the pig lactase phlorizin hydrolase promoter in intestinal cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18172690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-007-0460-X

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18172690%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

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