Publications:

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Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.

Nature Metabolism

Kempf, Elena E; Landgraf, Kathrin K; Stein, Robert R; Hanschkow, Martha M; Hilbert, Anja A; Abou Jamra, Rami R; Boczki, Paula P; Herberth, Gunda G; Kühnapfel, Andreas A; Tseng, Yu-Hua YH; Stäubert, Claudia C; Schöneberg, Torsten T; Kühnen, Peter P; Rayner, N William NW; Zeggini, Eleftheria E; Kiess, Wieland W; Blüher, Matthias M; Körner, Antje A

Publication Date: 2022-12-19

Variant appearance in text: MC1R: S83P; rs34474212

PubMed Link: 36536132

Variant Present in the following documents:

• 42255_2022_703_MOESM1_ESM.pdf

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A randomized clinical trial of precision prevention materials incorporating MC1R genetic risk to improve skin cancer prevention activities among Hispanics.

Cancer Research Communications

Lacson, John Charles A JCA; Doyle, Scarlet H SH; Del Rio, Jocelyn J; Forgas, Stephanie M SM; Carvajal, Rodrigo R; Gonzalez-Calderon, Guillermo G; Feliciano, Adriana Ramírez AR; Kim, Youngchul Y; Roetzheim, Richard G RG; Sutton, Steven K SK; Vadaparampil, Susan T ST; Soto-Torres, Brenda B; Kanetsky, Peter A PA

Publication Date: 2022-01

Variant appearance in text: MC1R: S83P; rs34474212

PubMed Link: 35845857

Variant Present in the following documents:

• crc-21-0114-s01.xlsx, sheet 1

View BVdb publication page

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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: Ser83Pro; rs34474212

PubMed Link: 35452484

Variant Present in the following documents:

• Main text
• pone.0267286.pdf
• pone.0267286.s002.xlsx, sheet 1

View BVdb publication page

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Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Genes

Vergani, Elisabetta E; Frigerio, Simona S; Dugo, Matteo M; Devecchi, Andrea A; Feltrin, Erika E; De Cecco, Loris L; Vallacchi, Viviana V; Cossa, Mara M; Di Guardo, Lorenza L; Manoukian, Siranoush S; Peissel, Bernard B; Ferrari, Andrea A; Gallino, Gianfrancesco G; Maurichi, Andrea A; Rivoltini, Licia L; Sensi, Marialuisa M; Rodolfo, Monica M

Publication Date: 2021-09-18

Variant appearance in text: MC1R: S83P

PubMed Link: 34573422

Variant Present in the following documents:

• genes-12-01440.pdf

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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: rs34474212

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: rs34474212

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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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs34474212

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics

Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L

Publication Date: 2019-06-15

Variant appearance in text: rs34474212

PubMed Link: 30657907

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Nature Communications

Morgan, Michael D MD; Pairo-Castineira, Erola E; Rawlik, Konrad K; Canela-Xandri, Oriol O; Rees, Jonathan J; Sims, David D; Tenesa, Albert A; Jackson, Ian J IJ

Publication Date: 2018-12-10

Variant appearance in text: MC1R: S83P; rs34474212

PubMed Link: 30531825

Variant Present in the following documents:

• Main text
• 41467_2018_Article_7691.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs34474212

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Cutaneous melanoma primary site is linked to nevus density.

Oncotarget

Martin-Gorgojo, Alejandro A; Llinares, Marta M; Virós, Amaya A; Requena, Celia C; Garcia-Casado, Zaida Z; Traves, Víctor V; Kumar, Rajiv R; Nagore, Eduardo E

Publication Date: 2017-11-17

Variant appearance in text: MC1R: S83P

PubMed Link: 29228734

Variant Present in the following documents:

• oncotarget-08-98876-s001.pdf

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Germline MC1R status influences somatic mutation burden in melanoma.

Nature Communications

Robles-Espinoza, Carla Daniela CD; Roberts, Nicola D ND; Chen, Shuyang S; Leacy, Finbarr P FP; Alexandrov, Ludmil B LB; Pornputtapong, Natapol N; Halaban, Ruth R; Krauthammer, Michael M; Cui, Rutao R; Timothy Bishop, D D; Adams, David J DJ

Publication Date: 2016-07-12

Variant appearance in text: MC1R: Ser83Pro

PubMed Link: 27403562

Variant Present in the following documents:

• Main text
• ncomms12064.pdf

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Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One

Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR

Publication Date: 2015

Variant appearance in text: MC1R: S83P; rs34474212

PubMed Link: 25794181

Variant Present in the following documents:

• Main text
• pone.0121812.pdf

View BVdb publication page

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Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology

Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC

Publication Date: 2015-04

Variant appearance in text: rs34474212

PubMed Link: 25307738

Variant Present in the following documents:

• bjd0172-1081-sd1.pdf

View BVdb publication page

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: MC1R: S83P

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

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A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International

Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N

Publication Date: 2014

Variant appearance in text: MC1R: 247T>C; S83P; rs34474212

PubMed Link: 24982914

Variant Present in the following documents:

• Main text
• BMRI2014-925716.pdf
• 925716.f1.pdf

View BVdb publication page

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Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv

Fargnoli, M C MC; Sera, F F; Suppa, M M; Piccolo, D D; Landi, M T MT; Chiarugi, A A; Pellegrini, C C; Seidenari, S S; Peris, K K

Publication Date: 2014-12

Variant appearance in text: MC1R: S83P

PubMed Link: 24588892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: MC1R: S83P

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: MC1R: S83P

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology

Puig-Butillé, J A JA; Carrera, C C; Kumar, R R; Garcia-Casado, Z Z; Badenas, C C; Aguilera, P P; Malvehy, J J; Nagore, E E; Puig, S S

Publication Date: 2013-10

Variant appearance in text: MC1R: 247T>C; S83P

PubMed Link: 23647022

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research

Guan, Xiaoxiang X; Niu, Jiangong J; Liu, Zhensheng Z; Wang, Li-E LE; Amos, Christopher I CI; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Grimm, Elizabeth A EA; Wei, Qingyi Q

Publication Date: 2013-05

Variant appearance in text: MC1R: 247T>C; Ser83Pro; rs34474212

PubMed Link: 23360207

Variant Present in the following documents:

• Main text

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: S83P

PubMed Link: 22095472

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Journal Of The National Cancer Institute

Demenais, F F; Mohamdi, H H; Chaudru, V V; Goldstein, A M AM; Newton Bishop, J A JA; Bishop, D T DT; Kanetsky, P A PA; Hayward, N K NK; Gillanders, E E; Elder, D E DE; Avril, M F MF; Azizi, E E; van Belle, P P; Bergman, W W; Bianchi-Scarrà, G G; Bressac-de Paillerets, B B; Calista, D D; Carrera, C C; Hansson, J J; Harland, M M; Hogg, D D; Höiom, V V; Holland, E A EA; Ingvar, C C; Landi, M T MT; Lang, J M JM; Mackie, R M RM; Mann, G J GJ; Ming, M E ME; Njauw, C J CJ; Olsson, H H; Palmer, J J; Pastorino, L L; Puig, S S; Randerson-Moor, J J; Stark, M M; Tsao, H H; Tucker, M A MA; van der Velden, P P; Yang, X R XR; Gruis, N N; ,

Publication Date: 2010-10-20

Variant appearance in text: MC1R: S83P

PubMed Link: 20876876

Variant Present in the following documents:

• Main text
• supp_djq363_JNCI-09-1449R-Suppl_tables.pdf
• djq363.pdf

View BVdb publication page

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Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Bmc Cancer

Casula, Milena M; Muggiano, Antonio A; Cossu, Antonio A; Budroni, Mario M; Caracò, Corrado C; Ascierto, Paolo A PA; Pagani, Elena E; Stanganelli, Ignazio I; Canzanella, Sergio S; Sini, Mariacristina M; Palomba, Grazia G; , ; Palmieri, Giuseppe G

Publication Date: 2009-10-03

Variant appearance in text: MC1R: Ser83Pro

PubMed Link: 19799798

Variant Present in the following documents:

• Main text

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Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences.

Bmc Genetics

Fontanesi, Luca L; Beretti, Francesca F; Riggio, Valentina V; Dall'Olio, Stefania S; González, Elena Gómez EG; Finocchiaro, Raffaella R; Davoli, Roberta R; Russo, Vincenzo V; Portolano, Baldassare B

Publication Date: 2009-08-25

Variant appearance in text: MC1R: S83P

PubMed Link: 19706191

Variant Present in the following documents:

• 1471-2156-10-47.pdf

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Genetic variations associated with red hair color and fear of dental pain, anxiety regarding dental care and avoidance of dental care.

Journal Of The American Dental Association (1939)

Binkley, Catherine J CJ; Beacham, Abbie A; Neace, William W; Gregg, Ronald G RG; Liem, Edwin B EB; Sessler, Daniel I DI

Publication Date: 2009-07

Variant appearance in text: MC1R: S83P

PubMed Link: 19571053

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics

Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT

Publication Date: 2008-04-10

Variant appearance in text: MC1R: 247T>C; S83P

PubMed Link: 18402696

Variant Present in the following documents:

• Main text
• 1471-2156-9-31.pdf

View BVdb publication page

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