(Q24311916)

English

Aberrant trafficking of human melanocortin 1 receptor variants associated with red hair and skin cancer: Steady-state retention of mutant forms in the proximal golgi

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19452503%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Aberrant trafficking of human melanocortin 1 receptor variants associated with red hair and skin cancer: Steady-state retention of mutant forms in the proximal golgi (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19452503%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

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proopiomelanocortin

1 reference

GOA release 2020-03-11

Melanocortin 1 receptor

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

Berta Sanchez-Laorden

1

1 reference

Europe PubMed Central

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28 January 2020

Cecilia Herraiz Serrano

2

1 reference

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28 January 2020

Celia Jiménez-Cervantes

5

1 reference

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28 January 2020

José C García-Borrón

6

1 reference

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28 January 2020

author name string

Julio C Valencia

3

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28 January 2020

Vincent J Hearing

4

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28 January 2020

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publication date

1 September 2009

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28 January 2020

Journal of Cellular Physiology

1 reference

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28 January 2020

220

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28 January 2020

640-654

1 reference

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28 January 2020

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19452503%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

The genetics of sun sensitivity in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

19 March 2017

The cloning of a family of genes that encode the melanocortin receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

19 March 2017

Live imaging of yeast Golgi cisternal maturation.

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19 March 2017

Genetic association and cellular function of MC1R variant alleles in human pigmentation

2 references

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19 March 2017

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7 January 2021

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Forward transport. 14-3-3 binding overcomes retention in endoplasmic reticulum by dibasic signals

1 reference

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19 March 2017

Rab1 interaction with a GM130 effector complex regulates COPII vesicle cis--Golgi tethering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

19 March 2017

Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

19 March 2017

Melanocortin 1 receptor variants in an Irish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

19 March 2017

Beta-arrestins and cell signaling

1 reference

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7 April 2017

A trip to the ER: coping with stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

7 April 2017

Quality control in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

7 April 2017

Seven-transmembrane receptors

1 reference

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7 April 2017

Brefeldin A inhibits Golgi membrane-catalysed exchange of guanine nucleotide onto ARF protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

7 April 2017

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Protein quality control in the early secretory pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

G protein-coupled receptor trafficking in health and disease: lessons learned to prepare for therapeutic mutant rescue in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Rescue of a nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutant by cell-penetrating peptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Insights into COPI coat assembly and function in living cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Variant amino acids in different domains of the human melanocortin 1 receptor impair cell surface expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Melanocortin receptor ligands: new horizons for skin biology and clinical dermatology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Endocytosis conducts the cell signaling orchestra

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Hide and run. Arginine-based endoplasmic-reticulum-sorting motifs in the assembly of heteromultimeric membrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

The regulatory mechanisms of export trafficking of G protein-coupled receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

The genetics of susceptibility to cutaneous melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Role of G protein-coupled receptor kinases in the homologous desensitization of the human and mouse melanocortin 1 receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

alpha-Melanocyte-stimulating hormone protects from ultraviolet radiation-induced apoptosis and DNA damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Checkpoints in ER-associated degradation: excuse me, which way to the proteasome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Rate limiting factors in melanocortin 1 receptor signalling through the cAMP pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Quantitative analysis of eumelanin and pheomelanin in humans, mice, and other animals: a comparative review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

ER Export: Call 14-3-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Skin colour and skin cancer - MC1R, the genetic link

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Functional variation of MC1R alleles from red-haired individuals.

1 reference

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27 September 2017

A trafficking checkpoint controls GABA(B) receptor heterodimerization

1 reference

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

1 reference

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27 September 2017

Inhibition of atypical PKC blocks ultraviolet-induced AP-1 activation by specifically inhibiting ERKs activation

1 reference

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Intracellular retention of recombinant GABAB receptors

1 reference

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27 September 2017

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

1 reference

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Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment

1 reference

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27 September 2017

An N-terminal double-arginine motif maintains type II membrane proteins in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

27 September 2017

Expression of biologically active human corticosteroid binding globulin by insect cells: acquisition of function requires glycosylation and transport

1 reference

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27 September 2017

The receptor for alpha-melanotropin of mouse and human melanoma cells. Application of a potent alpha-melanotropin photoaffinity label

1 reference

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30 May 2018

Structural/functional relationships between internal and external MSH receptors: modulation of expression in Cloudman melanoma cells by UVB radiation

1 reference

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30 May 2018

Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705480

29 November 2018

Quantitative analysis of MC1R gene expression in human skin cell cultures.

1 reference

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29 November 2018

Dimerization of the human melanocortin 1 receptor: functional consequences and dominant-negative effects.

1 reference

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29 November 2018

Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.

1 reference

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29 November 2018

Membrane trafficking: coat control by curvature

1 reference

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29 November 2018

Homologous and heterologous regulation of alpha-melanocyte-stimulating hormone receptors in human and mouse melanoma cell lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/19452503

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Morphological analysis of the transfer of VSV ts-045 G glycoprotein from the endoplasmic reticulum to the intermediate compartment in vero cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/19452503

12 December 2020

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inferred from PubMed ID database lookup

Disease-causing V(2) vasopressin receptors are retained in different compartments of the early secretory pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/19452503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

alpha-Melanocortin and endothelin-1 activate antiapoptotic pathways and reduce DNA damage in human melanocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19452503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Golgi maturation visualized in living yeast

1 reference

https://pubmed.ncbi.nlm.nih.gov/19452503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19452503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19452503

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/JCP.21804

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19452503%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19452503%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19452503%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

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