Publications:

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Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Plos One

Neitzke-Montinelli, Vanessa V; da Silva Figueiredo Celestino Gomes, Priscila P; Pascutti, Pedro G PG; Moura-Neto, Rodrigo S RS; Silva, Rosane R

Publication Date: 2022

Variant appearance in text: MC1R: Arg109Trp; rs546618600

PubMed Link: 35452484

Variant Present in the following documents:

• pone.0267286.s002.xlsx, sheet 1

View BVdb publication page

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Advances in pig models of human diseases.

Animal Models And Experimental Medicine

Hou, Naipeng N; Du, Xuguang X; Wu, Sen S

Publication Date: 2022-04

Variant appearance in text: MC1R: R109W

PubMed Link: 35343091

Variant Present in the following documents:

• Main text
• AME2-5-141.pdf

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs546618600

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T

Publication Date: 2021-12

Variant appearance in text: rs546618600

PubMed Link: 34326492

Variant Present in the following documents:

• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

International Journal Of Cancer

Cust, Anne E AE; Goumas, Chris C; Holland, Elizabeth A EA; Agha-Hamilton, Chantelle C; Aitken, Joanne F JF; Armstrong, Bruce K BK; Giles, Graham G GG; Kefford, Richard F RF; Schmid, Helen H; Hopper, John L JL; Mann, Graham J GJ; Jenkins, Mark A MA

Publication Date: 2012-08-01

Variant appearance in text: MC1R: R109W

PubMed Link: 22095472

Variant Present in the following documents:

• Main text

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The E92K melanocortin 1 receptor mutant induces cAMP production and arrestin recruitment but not ERK activity indicating biased constitutive signaling.

Plos One

Benned-Jensen, Tau T; Mokrosinski, Jacek J; Rosenkilde, Mette M MM

Publication Date: 2011

Variant appearance in text: MC1R: R109W

PubMed Link: 21931793

Variant Present in the following documents:

• Main text
• pone.0024644.pdf

View BVdb publication page

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