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: rs11547464

PubMed Link: 37239480

Variant Present in the following documents:

• Main text
• genes-14-01120.pdf

View BVdb publication page

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Mechanisms and implications in gene polymorphism mediated diverse reponses to sedatives, analgesics and muscle relaxants.

Korean Journal Of Anesthesiology

Sun, Yan Y; Zhu, Hongyu H; Esmaeili, Elham E; Tang, Xue X; Wu, Zhilin Z

Publication Date: 2022-12-05

Variant appearance in text: MC1R: R142H

PubMed Link: 36935389

Variant Present in the following documents:

• Main text
• kja-22654.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: R142H; rs11547464

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: rs11547464

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: R142H

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: R142H; rs11547464

PubMed Link: 36536132

Variant Present in the following documents:

• 42255_2022_703_MOESM1_ESM.pdf

View BVdb publication page

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Alcohol as a Non-UV Social-Environmental Risk Factor for Melanoma.

Cancers

Yamauchi, Takeshi T; Shangraw, Sarah S; Zhai, Zili Z; Ravindran Menon, Dinoop D; Batta, Nisha N; Dellavalle, Robert P RP; Fujita, Mayumi M

Publication Date: 2022-10-13

Variant appearance in text: MC1R: R142H

PubMed Link: 36291794

Variant Present in the following documents:

• Main text
• cancers-14-05010.pdf

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: R142H

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: R142H; rs11547464

PubMed Link: 35845857

Variant Present in the following documents:

• crc-21-0114-s01.xlsx, sheet 1

View BVdb publication page

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Focus on the Contribution of Oxidative Stress in Skin Aging.

Antioxidants (Basel, Switzerland)

Papaccio, Federica F; D Arino, Andrea A; Caputo, Silvia S; Bellei, Barbara B

Publication Date: 2022-06-06

Variant appearance in text: MC1R: R142H

PubMed Link: 35740018

Variant Present in the following documents:

• Main text
• antioxidants-11-01121.pdf

View BVdb publication page

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances

Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q

Publication Date: 2022-09-27

Variant appearance in text: MC1R: R142H; rs11547464

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl12.xlsx, sheet 1
• advancesADV2021006654-suppl4.xlsx, sheet 24

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: Arg142His; rs11547464

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: R142H

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: rs11547464

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: R142H; rs11547464

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Genetic and Genomic Pathways of Melanoma Development, Invasion and Metastasis.

Genes

Motwani, Jyoti J; Eccles, Michael R MR

Publication Date: 2021-09-28

Variant appearance in text: MC1R: R142H

PubMed Link: 34680938

Variant Present in the following documents:

• Main text
• genes-12-01543.pdf

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: R142H

PubMed Link: 34573422

Variant Present in the following documents:

• Main text
• genes-12-01440.pdf

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: R142H

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: R142H; rs11547464

PubMed Link: 34439206

Variant Present in the following documents:

• Main text

View BVdb publication page

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Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention.

Genes

Manganelli, Michele M; Guida, Stefania S; Ferretta, Anna A; Pellacani, Giovanni G; Porcelli, Letizia L; Azzariti, Amalia A; Guida, Gabriella G

Publication Date: 2021-07-19

Variant appearance in text: MC1R: R142H

PubMed Link: 34356109

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: rs11547464

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: rs11547464

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: rs11547464

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: R142H

PubMed Link: 34067022

Variant Present in the following documents:

• Main text

View BVdb publication page

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The protective role of MC1R in chromosome stability and centromeric integrity in melanocytes.

Cell Death Discovery

Li, Xin X; Mao, Weiwei W; Chen, Jie J; Goding, Colin R CR; Cui, Rutao R; Xu, Zhi-Xiang ZX; Miao, Xiao X

Publication Date: 2021-05-18

Variant appearance in text: MC1R: R142H

PubMed Link: 34001865

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: rs11547464

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: rs11547464

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: R142H

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: rs11547464

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: Arg142His; rs11547464

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: R142H

PubMed Link: 32898390

Variant Present in the following documents:

• Main text

View BVdb publication page

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MC1R variants in relation to naevi in melanoma cases and controls: a pooled analysis from the M-SKIP project.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv

Stefanaki, I I; Stratigos, A J AJ; Kypreou, K P KP; Evangelou, E E; Gandini, S S; Maisonneuve, P P; Polsky, D D; Lazovich, D D; Newton-Bishop, J J; Kanetsky, P A PA; Puig, S S; Gruis, N A NA; Ghiorzo, P P; Pellegrini, C C; De Nicolo, A A; Ribas, G G; Guida, G G; Garcia-Borron, J C JC; Fargnoli, M C MC; Nan, H H; Landi, M T MT; Little, J J; Sera, F F; Raimondi, S S; ,

Publication Date: 2021-02

Variant appearance in text: MC1R: R142H

PubMed Link: 32780924

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: rs11547464

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

View BVdb publication page

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Genetic architecture of complex traits and disease risk predictors.

Scientific Reports

Yong, Soke Yuen SY; Raben, Timothy G TG; Lello, Louis L; Hsu, Stephen D H SDH

Publication Date: 2020-07-21

Variant appearance in text: rs11547464

PubMed Link: 32694572

Variant Present in the following documents:

• 41598_2020_68881_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: R142H; rs11547464

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: R142H

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: rs11547464

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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Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients.

Journal Of Translational Medicine

Ciccarese, Giulia G; Dalmasso, Bruna B; Bruno, William W; Queirolo, Paola P; Pastorino, Lorenza L; Andreotti, Virginia V; Spagnolo, Francesco F; Tanda, Enrica E; Ponti, Giovanni G; Massone, Cesare C; Drago, Francesco F; Parodi, Aurora A; Ghigliotti, Giovanni G; Pizzichetta, Maria Antonietta MA; Ghiorzo, Paola P; ,

Publication Date: 2020-02-13

Variant appearance in text: MC1R: R142H

PubMed Link: 32054529

Variant Present in the following documents:

• Main text
• 12967_2020_Article_2253.pdf

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: rs11547464

PubMed Link: 31834199

Variant Present in the following documents:

• Main text

View BVdb publication page

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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Nature Communications

Watkins, W Scott WS; Hernandez, E Javier EJ; Wesolowski, Sergiusz S; Bisgrove, Brent W BW; Sunderland, Ryan T RT; Lin, Edwin E; Lemmon, Gordon G; Demarest, Bradley L BL; Miller, Thomas A TA; Bernstein, Daniel D; Brueckner, Martina M; Chung, Wendy K WK; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Newburger, Jane W JW; Seidman, Christine E CE; Shen, Yufeng Y; Yost, H Joseph HJ; Yandell, Mark M; Tristani-Firouzi, Martin M

Publication Date: 2019-10-17

Variant appearance in text: rs11547464

PubMed Link: 31624253

Variant Present in the following documents:

• 41467_2019_12582_MOESM3_ESM.xlsx, sheet 1

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: 425G>A; Arg142His; rs11547464

PubMed Link: 31612033

Variant Present in the following documents:

• Main text
• ol-18-05-5225.pdf
• Supplementary_Data.pdf

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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: R142H

PubMed Link: 31488411

Variant Present in the following documents:

• Main text

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Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer

Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-05

Variant appearance in text: MC1R: 425G>A; Arg142His

PubMed Link: 31382929

Variant Present in the following documents:

• 12885_2019_5984_MOESM1_ESM.pdf

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