(Q34095282)

31 July 2017

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title

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

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31 July 2017

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Sturm RA

1

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31 July 2017

Teasdale RD

series ordinal

2

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31 July 2017

Box NF

series ordinal

3

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31 July 2017

language of work or name

English

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publication date

1 October 2001

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31 July 2017

1 reference

31 July 2017

277

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31 July 2017

1-2

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31 July 2017

49-62

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The melanocortin-1 receptor is a key regulator of human cutaneous pigmentation.

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Melanosomal pH, pink locus protein and their roles in melanogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Rab27a: A key to melanosome transport in human melanocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

The genetics of pigmentation: from fancy genes to complex traits

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Cyclic AMP a key messenger in the regulation of skin pigmentation.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Sequence of the human dopachrome tautomerase-encoding TRP-2 cDNA

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Polymerization of 5,6-dihydroxyindole-2-carboxylic acid to melanin by the pmel 17/silver locus protein

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

A polymorphic protease-activated receptor 2 (PAR2) displaying reduced sensitivity to trypsin and differential responses to PAR agonists

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Tyrosinase and related proteins in mammalian pigmentation

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Regulation of the catalytic activity of preexisting tyrosinase in black and Caucasian human melanocyte cell cultures

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Involvement of ITF2 in the transcriptional regulation of melanogenic genes

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Characterization of genes modulated during pheomelanogenesis using differential display

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Evidence for variable selective pressures at MC1R

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Rab27a regulates the peripheral distribution of melanosomes in melanocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Role of tyrosinase as the determinant of pigmentation in cultured human melanocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

The evolution of human skin coloration

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Homologous pigmentation mutations in human, mouse and other model organisms.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Intracellular vesicular trafficking of tyrosinase gene family protein in eu- and pheomelanosome biogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Molecular interactions within the melanogenic complex: formation of heterodimers of tyrosinase and TRP1 from B16 mouse melanoma

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Genomic organization and FISH mapping of human Pmel 17, the putative silver locus

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Tyrosinase stabilization by Tyrp1 (the brown locus protein).

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Characterization and subcellular localization of human Pmel 17/silver, a 110-kDa (pre)melanosomal membrane protein associated with 5,6,-dihydroxyindole-2-carboxylic acid (DHICA) converting activity.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

The underwhite (uw) locus acts autonomously and reduces the production of melanin

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Delayed onset of inflammation in protease-activated receptor-2-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Genomic views of human history.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Cysteine transport in melanosomes from murine melanocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

The mouse ocular albinism 1 gene product is an endolysosomal protein

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Ocular albinism: evidence for a defect in an intracellular signal transduction system

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

The protease-activated receptor 2 regulates pigmentation via keratinocyte-melanocyte interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Inhibition of melanosome transfer results in skin lightening

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Interspersed repeats and other mementos of transposable elements in mammalian genomes

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Melanocortin 1 receptor variants in an Irish population

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

New insights on the structure of the mouse silver locus and on the function of the silver protein

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Human pigmentation genetics: the difference is only skin deep

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

A new allelic series for the underwhite gene on mouse chromosome 15.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

The Sequence of the Human Genome

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

A polymorphism study of the human Agouti gene and its association with MC1R.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

nmb, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function In vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900694-1

7 January 2021

10.1016/S0378-1119(01)00694-1

Identifiers

DOI

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31 July 2017

1 reference