Sequences associated with human iris pigmentation. (Q34287539)

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17 November 2019

review article

1 reference

title

Sequences associated with human iris pigmentation (English)

1 reference

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17 November 2019

author name string

Tony Frudakis

1

1 reference

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17 November 2019

Matthew Thomas

2

1 reference

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17 November 2019

Zach Gaskin

3

1 reference

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17 November 2019

K Venkateswarlu

4

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17 November 2019

K Suresh Chandra

5

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17 November 2019

Siva Ginjupalli

6

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17 November 2019

Sitaram Gunturi

7

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17 November 2019

Sivamani Natrajan

8

1 reference

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17 November 2019

Viswanathan K Ponnuswamy

9

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17 November 2019

K N Ponnuswamy

10

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17 November 2019

language of work or name

English

0 references

publication date

1 December 2003

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17 November 2019

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17 November 2019

volume

165

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17 November 2019

issue

4

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17 November 2019

page(s)

2071-2083

1 reference

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A classifier for the SNP-based inference of ancestry.

17 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Skin pigmentation, biogeographical ancestry and admixture mapping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

P gene as an inherited biomarker of human eye color.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Induction of tyrosinase gene transcription in human iris organ cultures exposed to latanoprost.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

A New Statistical Method for Haplotype Reconstruction from Population Data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Empirical Bayes adjustments for multiple results in hypothesis-generating or surveillance studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Melanocortin 1 receptor variants in an Irish population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Characterization of Melanocyte Stimulating Hormone Receptor Variant Alleles in Twins with Red Hair

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Eye color changes past early childhood. The Louisville Twin Study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Molecular basis of dark-eyed albinism in the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Molecular structure and chromosomal mapping of the human homolog of the agouti gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Exact tests for association between alleles at arbitrary numbers of loci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Excision of the DBA ecotropic provirus in dilute coat-color revertants of mice occurs by homologous recombination involving the viral LTRs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Molecular basis of mouse Himalayan mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Molecular analysis of two mouse dilute locus deletion mutations: spontaneous dilute lethal20J and radiation-induced dilute prenatal lethal Aa2 alleles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Estimation of the heritability of hair and eye color

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1462887

Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans

28 October 2018

1 reference

12 December 2020

Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair

1 reference

12 December 2020

Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population

1 reference

12 December 2020

Discrete visual defects in pearl mutant mice

1 reference

12 December 2020

Individual admixture estimates: disease associations and individual risk of diabetes and gallbladder disease among Mexican-Americans in Starr County, Texas

1 reference

12 December 2020

Retention of specific proliferative capacity of cloned human T cells alloactivated againstHLA-D alleles

1 reference

12 December 2020

Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

1 reference

12 December 2020

Pigmentation genes: the tyrosinase gene family and the pmel 17 gene family

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14704187%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

PubMed publication ID

14704187

1 reference