Publications:

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Accuracy of Eye and Hair Color Prediction in Mexican Mestizos from Monterrey City Based on ForenSeqTM DNA Signature Prep.

Genes

Aguilar-Velázquez, José Alonso JA; Llamas-de-Dios, Blanca Jeannete BJ; Córdova-Mercado, Miranda Fabiola MF; Coronado-Ávila, Carolina Elena CE; Salas-Salas, Orlando O; López-Quintero, Andrés A; Ramos-González, Benito B; Rangel-Villalobos, Héctor H

Publication Date: 2023-05-22

Variant appearance in text: rs1110400

PubMed Link: 37239480

Variant Present in the following documents:

• genes-14-01120.pdf

View BVdb publication page

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MC1R 'r' allele does not increase melanoma risk in MITF E318K carriers.

The British Journal Of Dermatology

Wallingford, Courtney K CK; Demeshko, Anastassia A; Krishnankutty Krishnakripa, Asha A; Smit, Darren J DJ; Duffy, David L DL; Betz-Stablein, Brigid B; Pflugfelder, Annette A; Jagirdar, Kasturee K; Holland, Elizabeth E; Mann, Graham J GJ; Primiero, Clare A CA; Yanes, Tatiane T; Malvehy, Josep J; Badenas, Cèlia C; Carrera, Cristina C; Aguilera, Paula P; Olsen, Catherine M CM; Ward, Sarah V SV; Haass, Nikolas K NK; Sturm, Richard A RA; Puig, Susanna S; Whiteman, David C DC; Law, Matthew H MH; Cust, Anne E AE; Potrony, Miriam M; Soyer, H Peter HP; McInerney-Leo, Aideen M AM

Publication Date: 2023-03-05

Variant appearance in text: MC1R: I155T; rs1110400

PubMed Link: 36879448

Variant Present in the following documents:

• Main text
• ljad041.pdf

View BVdb publication page

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Human profiling from STR and SNP analysis of tropical bed bug, Cimex hemipterus, for forensic science.

Scientific Reports

Lim, Li L; Ab Majid, Abdul Hafiz AH

Publication Date: 2023-01-27

Variant appearance in text: rs1110400

PubMed Link: 36707655

Variant Present in the following documents:

• Main text
• 41598_2023_Article_28774.pdf

View BVdb publication page

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Melanogenesis and the Targeted Therapy of Melanoma.

Biomolecules

Li, Cang C; Kuai, Le L; Cui, Rutao R; Miao, Xiao X

Publication Date: 2022-12-14

Variant appearance in text: MC1R: I155T

PubMed Link: 36551302

Variant Present in the following documents:

• Main text
• biomolecules-12-01874.pdf

View BVdb publication page

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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: I155T; rs1110400

PubMed Link: 36536132

Variant Present in the following documents:

• 42255_2022_703_MOESM1_ESM.pdf

View BVdb publication page

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Destabilization of mutated human PUS3 protein causes intellectual disability.

Human Mutation

Lin, Ting-Yu TY; Smigiel, Robert R; Kuzniewska, Bozena B; Chmielewska, Joanna J JJ; Kosińska, Joanna J; Biela, Mateusz M; Biela, Anna A; Kościelniak, Anna A; Dobosz, Dominika D; Laczmanska, Izabela I; Chramiec-Głąbik, Andrzej A; Jeżowski, Jakub J; Nowak, Jakub J; Gos, Monika M; Rzonca-Niewczas, Sylwia S; Dziembowska, Magdalena M; Ploski, Rafał R; Glatt, Sebastian S

Publication Date: 2022-09-20

Variant appearance in text: MC1R: 464T>C; Ile155Thr

PubMed Link: 36125428

Variant Present in the following documents:

• HUMU-43-2063-s002.xlsx, sheet 3

View BVdb publication page

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: MC1R: 464T>C; Ile155Thr

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

View BVdb publication page

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Interest and Utility of MC1R Testing for Melanoma Risk in Dermatology Patients with a History of Nonmelanoma Skin Cancer.

Journal Of Skin Cancer

Hay, Jennifer L JL; Lee, Erica H EH; Christian, Stephanie N SN; Schofield, Elizabeth E; Hamilton, Jada G JG; Yang, Ciyu C; Hedayati, Bobak B; Sadeghi, Keimya K; Robson, Mark E ME; Halpern, Allan A; Zhang, Liying L; Orlow, Irene I

Publication Date: 2022

Variant appearance in text: MC1R: I155T

PubMed Link: 35959144

Variant Present in the following documents:

• JSC2022-4046554.pdf

View BVdb publication page

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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: I155T; rs1110400

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: Ile155Thr; rs1110400

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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The Interplay between Tumour Microenvironment Components in Malignant Melanoma.

Medicina (Kaunas, Lithuania)

Amalinei, Cornelia C; Grigoraș, Adriana A; Lozneanu, Ludmila L; Căruntu, Irina-Draga ID; Giușcă, Simona-Eliza SE; Balan, Raluca Anca RA

Publication Date: 2022-03-02

Variant appearance in text: MC1R: I155T

PubMed Link: 35334544

Variant Present in the following documents:

• Main text
• medicina-58-00365.pdf

View BVdb publication page

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Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.

Plos One

Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR

Publication Date: 2022

Variant appearance in text: rs1110400

PubMed Link: 35176104

Variant Present in the following documents:

• Main text
• pone.0264125.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: MC1R: I155T; rs1110400

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: I155T

PubMed Link: 34573422

Variant Present in the following documents:

• Main text
• genes-12-01440.pdf

View BVdb publication page

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: MC1R: 464T>C; I155T; rs1110400

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Journal Of Clinical Medicine

Zocchi, Lamberto L; Lontano, Alberto A; Merli, Martina M; Dika, Emi E; Nagore, Eduardo E; Quaglino, Pietro P; Puig, Susana S; Ribero, Simone S

Publication Date: 2021-08-23

Variant appearance in text: MC1R: I155T

PubMed Link: 34442055

Variant Present in the following documents:

• Main text
• jcm-10-03760.pdf

View BVdb publication page

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Behavioral and Psychological Outcomes Associated with Skin Cancer Genetic Testing in Albuquerque Primary Care.

Cancers

Hay, Jennifer L JL; Kaphingst, Kimberly A KA; Buller, David D; Schofield, Elizabeth E; Meyer White, Kirsten K; Sussman, Andrew A; Guest, Dolores D; Dailey, Yvonne T YT; Robers, Erika E; Schwartz, Matthew R MR; Li, Yuelin Y; Hunley, Keith K; Berwick, Marianne M

Publication Date: 2021-08-12

Variant appearance in text: MC1R: I155T; rs1110400

PubMed Link: 34439206

Variant Present in the following documents:

• Main text

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: rs1110400

PubMed Link: 34326492

Variant Present in the following documents:

• Main text
• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
• nihms-1754145.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: rs1110400

PubMed Link: 34326492

Variant Present in the following documents:

• Main text
• NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
• nihms-1754145.pdf

View BVdb publication page

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Analysis of Skin Pigmentation and Genetic Ancestry in Three Subpopulations from Pakistan: Punjabi, Pashtun, and Baloch.

Genes

Shan, Muhammad Adnan MA; Meyer, Olivia Strunge OS; Refn, Mie M; Morling, Niels N; Andersen, Jeppe Dyrberg JD; Børsting, Claus C

Publication Date: 2021-05-13

Variant appearance in text: rs1110400

PubMed Link: 34068188

Variant Present in the following documents:

• Main text

View BVdb publication page

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The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Cancers

Hubert, Jean-Noël JN; Suybeng, Voreak V; Vallée, Maxime M; Delhomme, Tiffany M TM; Maubec, Eve E; Boland, Anne A; Bacq, Delphine D; Deleuze, Jean-François JF; Jouenne, Fanélie F; Brennan, Paul P; McKay, James D JD; Avril, Marie-Françoise MF; Bressac-de Paillerets, Brigitte B; Chanudet, Estelle E

Publication Date: 2021-05-07

Variant appearance in text: MC1R: I155T

PubMed Link: 34067022

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes

Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E

Publication Date: 2021-02-03

Variant appearance in text: rs1110400

PubMed Link: 33546406

Variant Present in the following documents:

• Main text
• genes-12-00221.pdf

View BVdb publication page

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Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open

Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y

Publication Date: 2021-02-09

Variant appearance in text: rs1110400

PubMed Link: 33495209

Variant Present in the following documents:

• Main text
• biolopen-10-056523.pdf

View BVdb publication page

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Skin pigmentation and its control: From ultraviolet radiation to stem cells.

Experimental Dermatology

Yardman-Frank, Joseph Michael JM; Fisher, David E DE

Publication Date: 2021-04

Variant appearance in text: MC1R: I155T

PubMed Link: 33320376

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications Biology

Jorgenson, Eric E; Choquet, Hélène H; Yin, Jie J; Hoffmann, Thomas J TJ; Banda, Yambazi Y; Kvale, Mark N MN; Risch, Neil N; Schaefer, Catherine C; Asgari, Maryam M MM

Publication Date: 2020-12-14

Variant appearance in text: rs1110400

PubMed Link: 33318654

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1461.pdf

View BVdb publication page

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Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.

Pigment Cell & Melanoma Research

Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR

Publication Date: 2021-09

Variant appearance in text: MC1R: Ile155Thr; rs1110400

PubMed Link: 33248005

Variant Present in the following documents:

• Main text
• PCMR-34-892.pdf

View BVdb publication page

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MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project.

Melanoma Research

Caini, Saverio S; Gandini, Sara S; Botta, Francesca F; Tagliabue, Elena E; Raimondi, Sara S; Nagore, Eduardo E; Zanna, Ines I; Maisonneuve, Patrick P; Newton-Bishop, Julia J; Polsky, David D; Lazovich, DeAnn D; Kumar, Rajiv R; Kanetsky, Peter A PA; Hoiom, Veronica V; Ghiorzo, Paola P; Landi, Maria Teresa MT; Ribas, Gloria G; Menin, Chiara C; Stratigos, Alexander J AJ; Palmieri, Giuseppe G; Guida, Gabriella G; García-Borrón, Jose Carlos JC; Nan, Hongmei H; Little, Julian J; Sera, Francesco F; Puig, Susana S; Fargnoli, Maria Concetta MC; ,

Publication Date: 2020-10

Variant appearance in text: MC1R: I155T

PubMed Link: 32898390

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics

Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W

Publication Date: 2020-08-05

Variant appearance in text: rs1110400

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

View BVdb publication page

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MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific Reports

Smit, Amelia K AK; Collazo-Roman, Marielys M; Vadaparampil, Susan T ST; Valavanis, Stella S; Del Rio, Jocelyn J; Soto, Brenda B; Flores, Idhaliz I; Dutil, Julie J; Kanetsky, Peter A PA

Publication Date: 2020-04-29

Variant appearance in text: MC1R: I155T; rs1110400

PubMed Link: 32350296

Variant Present in the following documents:

• Main text
• 41598_2020_Article_64019.pdf

View BVdb publication page

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Melanoma Risk and Melanocyte Biology.

Acta Dermato-Venereologica

Bertrand, Julie U JU; Steingrimsson, Eirikur E; Jouenne, Fanélie F; Bressac-de Paillerets, Brigitte B; Larue, Lionel L

Publication Date: 2020-06-03

Variant appearance in text: MC1R: I155T

PubMed Link: 32346747

Variant Present in the following documents:

• Main text
• ActaDV-100-11-5749.pdf

View BVdb publication page

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Corded Ware cultural complexity uncovered using genomic and isotopic analysis from south-eastern Poland.

Scientific Reports

Linderholm, Anna A; Kılınç, Gülşah Merve GM; Szczepanek, Anita A; Włodarczak, Piotr P; Jarosz, Paweł P; Belka, Zdzislaw Z; Dopieralska, Jolanta J; Werens, Karolina K; Górski, Jacek J; Mazurek, Mirosław M; Hozer, Monika M; Rybicka, Małgorzata M; Ostrowski, Mikołaj M; Bagińska, Jolanta J; Koman, Wiesław W; Rodríguez-Varela, Ricardo R; Storå, Jan J; Götherström, Anders A; Krzewińska, Maja M

Publication Date: 2020-04-14

Variant appearance in text: rs1110400

PubMed Link: 32303690

Variant Present in the following documents:

• 41598_2020_63138_MOESM2_ESM.xlsx, sheet 11
• 41598_2020_63138_MOESM2_ESM.xlsx, sheet 12

View BVdb publication page

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Detangling red hair from pain: phenotype-specific contributions from different genetic variants in melanocortin-1 receptor.

Pain

Zorina-Lichtenwalter, Katerina K; Maixner, William W; Diatchenko, Luda L

Publication Date: 2020-05

Variant appearance in text: rs1110400

PubMed Link: 31834199

Variant Present in the following documents:

• Main text

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: MC1R: 464T>C; Ile155Thr; rs1110400

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Oncology Letters

Ozola, Aija A; Ruklisa, Dace D; Pjanova, Dace D

Publication Date: 2019-11

Variant appearance in text: MC1R: 464T>C; Ile155Thr; rs1110400

PubMed Link: 31612033

Variant Present in the following documents:

• Main text
• ol-18-05-5225.pdf

View BVdb publication page

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MC1R Variation in a New Mexico Population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

White, Kirsten A M KAM; Dailey, Yvonne T YT; Guest, Dolores D DD; Zielaskowski, Kate K; Robers, Erika E; Sussman, Andrew A; Hunley, Keith K; Hughes, Christopher R CR; Schwartz, Matthew R MR; Kaphingst, Kimberly A KA; Buller, David B DB; Hay, Jennifer L JL; Berwick, Marianne M

Publication Date: 2019-11

Variant appearance in text: MC1R: I155T

PubMed Link: 31488411

Variant Present in the following documents:

• Main text

View BVdb publication page

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Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.

Journal Of Oncology

Czyz, Malgorzata M; Sztiller-Sikorska, Malgorzata M; Gajos-Michniewicz, Anna A; Osrodek, Marta M; Hartman, Mariusz L ML

Publication Date: 2019

Variant appearance in text: MC1R: I155T

PubMed Link: 31354817

Variant Present in the following documents:

• Main text
• JO2019-1697913.pdf

View BVdb publication page

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Inherited MC1R variants in patients with melanoma are associated with better survival in women.

The British Journal Of Dermatology

Lira, F E FE; Podlipnik, S S; Potrony, M M; Tell-Martí, G G; Calbet-Llopart, N N; Barreiro, A A; Carrera, C C; Malvehy, J J; Puig, S S

Publication Date: 2020-01

Variant appearance in text: MC1R: I155T

PubMed Link: 31016712

Variant Present in the following documents:

• Main text
• BJD-182-138.pdf

View BVdb publication page

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MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

The Lancet. Child & Adolescent Health

Pellegrini, Cristina C; Botta, Francesca F; Massi, Daniela D; Martorelli, Claudia C; Facchetti, Fabio F; Gandini, Sara S; Maisonneuve, Patrick P; Avril, Marie-Françoise MF; Demenais, Florence F; Bressac-de Paillerets, Brigitte B; Hoiom, Veronica V; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Marrett, Loraine L; Zanetti, Roberto R; Dwyer, Terence T; Thomas, Nancy E NE; Begg, Colin B CB; Berwick, Marianne M; Puig, Susana S; Potrony, Miriam M; Nagore, Eduardo E; Ghiorzo, Paola P; Menin, Chiara C; Manganoni, Ausilia Maria AM; Rodolfo, Monica M; Brugnara, Sonia S; Passoni, Emanuela E; Sekulovic, Lidija Kandolf LK; Baldini, Federica F; Guida, Gabriella G; Stratigos, Alexandros A; Ozdemir, Fezal F; Ayala, Fabrizio F; Fernandez-de-Misa, Ricardo R; Quaglino, Pietro P; Ribas, Gloria G; Romanini, Antonella A; Migliano, Emilia E; Stanganelli, Ignazio I; Kanetsky, Peter A PA; Pizzichetta, Maria Antonietta MA; García-Borrón, Jose Carlos JC; Nan, Hongmei H; Landi, Maria Teresa MT; Little, Julian J; Newton-Bishop, Julia J; Sera, Francesco F; Fargnoli, Maria Concetta MC; Raimondi, Sara S; , ; , ; ,

Publication Date: 2019-05

Variant appearance in text: MC1R: I155T

PubMed Link: 30872112

Variant Present in the following documents:

• Main text

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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: MC1R: I155T; rs1110400

PubMed Link: 30657907

Variant Present in the following documents:

• Main text

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Risk Factors of Subsequent Primary Melanomas in Austria.

Jama Dermatology

Müller, Christoph C; Wendt, Judith J; Rauscher, Sabine S; Sunder-Plassmann, Raute R; Richtig, Erika E; Fae, Ingrid I; Fischer, Gottfried G; Okamoto, Ichiro I

Publication Date: 2019-02-01

Variant appearance in text: MC1R: I155T

PubMed Link: 30566178

Variant Present in the following documents:

• Main text

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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: I155T; rs1110400

PubMed Link: 30531825

Variant Present in the following documents:

• Main text

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Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer

Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,

Publication Date: 2019-05-15

Variant appearance in text: MC1R: 464T>C; I155T

PubMed Link: 30414346

Variant Present in the following documents:

• Main text
• IJC-144-2453.pdf

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MC1R gene polymorphisms are associated with dysfunctional immune responses and wound infection after burn injury.

The Journal Of Surgical Research

Carter, Damien W DW; Sood, Ravi F RF; Seaton, Max E ME; Muffley, Lara A LA; Honari, Shari S; Hocking, Ann M AM; Arbabi, Saman A SA; Gibran, Nicole S NS

Publication Date: 2018-11

Variant appearance in text: MC1R: I155T; rs1110400

PubMed Link: 30278967

Variant Present in the following documents:

• Main text

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Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences

Del Bino, Sandra S; Duval, Christine C; Bernerd, Françoise F

Publication Date: 2018-09-08

Variant appearance in text: rs1110400

PubMed Link: 30205563

Variant Present in the following documents:

• Main text
• ijms-19-02668.pdf

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Hierarchical modeling of melanocortin 1 receptor variants with skin cancer risk.

Genetic Epidemiology

Joshi, Amit D AD; Li, Xin X; Kraft, Peter P; Han, Jiali J

Publication Date: 2018-09

Variant appearance in text: MC1R: Ile155Thr

PubMed Link: 29968341

Variant Present in the following documents:

• Main text

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Contributions by MC1R Variants to Melanoma Risk in Males and Females.

Jama Dermatology

Wendt, Judith J; Mueller, Christoph C; Rauscher, Sabine S; Fae, Ingrid I; Fischer, Gottfried G; Okamoto, Ichiro I

Publication Date: 2018-07-01

Variant appearance in text: MC1R: I155T

PubMed Link: 29898205

Variant Present in the following documents:

• Main text

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Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal Of Investigative Dermatology

Cust, Anne E AE; Drummond, Martin M; Kanetsky, Peter A PA; , ; , ; Goldstein, Alisa M AM; Barrett, Jennifer H JH; MacGregor, Stuart S; Law, Matthew H MH; Iles, Mark M MM; Bui, Minh M; Hopper, John L JL; Brossard, Myriam M; Demenais, Florence F; Taylor, John C JC; Hoggart, Clive C; Brown, Kevin M KM; Landi, Maria Teresa MT; Newton-Bishop, Julia A JA; Mann, Graham J GJ; Bishop, D Timothy DT

Publication Date: 2018-12

Variant appearance in text: MC1R: I155T

PubMed Link: 29890168

Variant Present in the following documents:

• Main text

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MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project.

Cancer Management And Research

Tagliabue, Elena E; Gandini, Sara S; Bellocco, Rino R; Maisonneuve, Patrick P; Newton-Bishop, Julia J; Polsky, David D; Lazovich, DeAnn D; Kanetsky, Peter A PA; Ghiorzo, Paola P; Gruis, Nelleke A NA; Landi, Maria Teresa MT; Menin, Chiara C; Fargnoli, Maria Concetta MC; García-Borrón, Jose Carlos JC; Han, Jiali J; Little, Julian J; Sera, Francesco F; Raimondi, Sara S

Publication Date: 2018

Variant appearance in text: MC1R: I155T

PubMed Link: 29795986

Variant Present in the following documents:

• Main text

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