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: rs1805009

PubMed Link: 37239480

Variant Present in the following documents:

• genes-14-01120.pdf

View BVdb publication page

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Cutaneous Melanoma and Glioblastoma Multiforme Association-Case Presentation and Literature Review.

Diagnostics (Basel, Switzerland)

Orzan, Olguța Anca OA; Giurcăneanu, Călin C; Dima, Bogdan B; Dima, Monica Beatrice MB; Ion, Ana A; Bălăceanu, Beatrice B; Nițipir, Cornelia C; Tudose, Irina I; Nicolae, Cătălina Andreea CA; Dorobanțu, Alexandra Maria AM

Publication Date: 2023-03-09

Variant appearance in text: MC1R: D294H

PubMed Link: 36980355

Variant Present in the following documents:

• Main text
• diagnostics-13-01046.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: D294H

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: rs1805009

PubMed Link: 36879448

Variant Present in the following documents:

• Main text
• ljad041.pdf
• ljad041_supplementary_data.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: rs1805009

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: D294H

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: D294H; rs1805009

PubMed Link: 36536132

Variant Present in the following documents:

• 42255_2022_703_MOESM1_ESM.pdf

View BVdb publication page

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Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: rs1805009

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6
• NIHMS1852590-supplement-MMC1.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: D294H

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: D294H; rs1805009

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: Asp294His; rs1805009

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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Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Human Molecular Genetics

Castaneda-Garcia, Carolina C; Iyer, Vivek V; Nsengimana, Jérémie J; Trower, Adam A; Droop, Alastair A; Brown, Kevin M KM; Choi, Jiyeon J; Zhang, Tongwu T; Harland, Mark M; Newton-Bishop, Julia A JA; Bishop, D Timothy DT; Adams, David J DJ; Iles, Mark M MM; Robles-Espinoza, Carla Daniela CD

Publication Date: 2022-08-25

Variant appearance in text: MC1R: D294H; rs1805009

PubMed Link: 35357426

Variant Present in the following documents:

• supplementary_table_1_ddac074.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: D294H

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: rs1805009

PubMed Link: 35176104

Variant Present in the following documents:

• Main text
• pone.0264125.pdf

View BVdb publication page

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Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma.

Cancers

Raymond, Jérémy H JH; Aktary, Zackie Z; Larue, Lionel L; Delmas, Véronique V

Publication Date: 2022-01-29

Variant appearance in text: MC1R: D294H

PubMed Link: 35158973

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma.

Cancers

Raymond, Jérémy H JH; Aktary, Zackie Z; Larue, Lionel L; Delmas, Véronique V

Publication Date: 2022-01-29

Variant appearance in text: MC1R: D294H

PubMed Link: 35158973

Variant Present in the following documents:

• Main text

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: D294H; rs1805009

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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An Insight into GPCR and G-Proteins as Cancer Drivers.

Cells

Chaudhary, Preeti Kumari PK; Kim, Soochong S

Publication Date: 2021-11-24

Variant appearance in text: MC1R: D294H

PubMed Link: 34943797

Variant Present in the following documents:

• Main text

View BVdb publication page

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An Insight into GPCR and G-Proteins as Cancer Drivers.

Cells

Chaudhary, Preeti Kumari PK; Kim, Soochong S

Publication Date: 2021-11-24

Variant appearance in text: MC1R: D294H

PubMed Link: 34943797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study of pain sensitivity assessed by questionnaire and the cold pressor test.

Pain

Fontanillas, Pierre P; Kless, Achim A; Bothmer, John J; Tung, Joyce Y JY; ,

Publication Date: 2022-09-01

Variant appearance in text: MC1R: D294H; rs1805009

PubMed Link: 34924555

Variant Present in the following documents:

• Main text
• jop-163-01763.pdf

View BVdb publication page

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A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology

Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ

Publication Date: 2021-11-04

Variant appearance in text: MC1R: Asp294His; rs1805009

PubMed Link: 34737440

Variant Present in the following documents:

• Main text
• 42003_2021_2764_MOESM2_ESM.pdf
• 42003_2021_Article_2764.pdf

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: D294H

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: D294H

PubMed Link: 34573422

Variant Present in the following documents:

• Main text
• genes-12-01440.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: D294H; rs1805009

PubMed Link: 34439206

Variant Present in the following documents:

• Main text
• cancers-13-04053.pdf

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: D294H

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: rs1805009

PubMed Link: 34326492

Variant Present in the following documents:

• Main text
• nihms-1754145.pdf
• 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: rs1805009

PubMed Link: 34326492

Variant Present in the following documents:

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

View BVdb publication page

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Dermatologic Applications of Polypodium leucotomos: A Literature Review.

The Journal Of Clinical And Aesthetic Dermatology

Segars, Kelly K; McCarver, Victoria V; Miller, Richard A RA

Publication Date: 2021-02

Variant appearance in text: MC1R: D294H

PubMed Link: 34221229

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: D294H

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: D294H

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: rs1805009

PubMed Link: 33546406

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical challenges in interpreting multiple pathogenic mutations in single patients.

Hereditary Cancer In Clinical Practice

Slaught, Christa C; Berry, Elizabeth G EG; Bacik, Lindsay L; Skalet, Alison H AH; Anadiotis, George G; Tuohy, Therese T; Leachman, Sancy A SA

Publication Date: 2021-02-04

Variant appearance in text: MC1R: Asp294His

PubMed Link: 33541411

Variant Present in the following documents:

• Main text
• 13053_2021_Article_172.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: rs1805009

PubMed Link: 33495209

Variant Present in the following documents:

• Main text
• biolopen-10-056523.pdf

View BVdb publication page

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Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Human Molecular Genetics

Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH

Publication Date: 2021-01-06

Variant appearance in text: MC1R: ASP294HIS; rs1805009

PubMed Link: 33410475

Variant Present in the following documents:

• hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx, sheet 1

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: D294H

PubMed Link: 33320376

Variant Present in the following documents:

• Main text

View BVdb publication page

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α-MSH-PE38KDEL Kills Melanoma Cells via Modulating Erk1/2/MITF/TYR Signaling in an MC1R-Dependent Manner.

Oncotargets And Therapy

Liu, Xilin X; Li, Hong H; Cong, Xianling X; Huo, Da D; Cong, Lele L; Wu, Guangzhi G

Publication Date: 2020

Variant appearance in text: MC1R: Asp294His

PubMed Link: 33299329

Variant Present in the following documents:

• Main text
• ott-13-12457.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: Asp294His; rs1805009

PubMed Link: 33248005

Variant Present in the following documents:

• Main text
• PCMR-34-892.pdf

View BVdb publication page

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association

Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA

Publication Date: 2020-10-20

Variant appearance in text: MC1R: Asp294His; rs1805009

PubMed Link: 33003980

Variant Present in the following documents:

• JAH3-9-e016799-s001.pdf

View BVdb publication page

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Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease

Yang, Li-Kun LK; Hou, Zhi-Shuai ZS; Tao, Ya-Xiong YX

Publication Date: 2021-01-01

Variant appearance in text: MC1R: D294H

PubMed Link: 32949766

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation profiling in eight cases of vagal paragangliomas.

Bmc Medical Genomics

Kudryavtseva, Anna V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Savvateeva, Maria V MV; Fedorova, Maria S MS; Pudova, Elena A EA; Kobelyatskaya, Anastasiya A AA; Golovyuk, Alexander L AL; Guvatova, Zulfiya G ZG; Razmakhaev, George S GS; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Slavnova, Elena N EN; Poloznikov, Andrey А AА; Polyakov, Andrey P AP; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV

Publication Date: 2020-09-18

Variant appearance in text: MC1R: D294H; rs1805009

PubMed Link: 32948195

Variant Present in the following documents:

• 12920_2020_763_MOESM1_ESM.xls, sheet 7

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: D294H

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: D294H

PubMed Link: 32780924

Variant Present in the following documents:

• Main text

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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: rs1805009

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

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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: rs1805009

PubMed Link: 32694572

Variant Present in the following documents:

• 41598_2020_68881_MOESM1_ESM.pdf

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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: D294H; rs1805009

PubMed Link: 32350296

Variant Present in the following documents:

• Main text
• 41598_2020_Article_64019.pdf

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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: D294H

PubMed Link: 32346747

Variant Present in the following documents:

• Main text

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