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: rs885479

PubMed Link: 37239480

Variant Present in the following documents:

• Main text
• 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: rs885479

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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The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis.

Frontiers In Oncology

Zhang, Lu L; Pozsgai, Éva É; Song, Yongan Y; Macharia, John J; Alfatafta, Huda H; Zheng, Jia J; Li, Zhaoyi Z; Liu, Hongbo H; Kiss, István I

Publication Date: 2023

Variant appearance in text: rs885479

PubMed Link: 36874118

Variant Present in the following documents:

• Main text
• fonc-13-1094309.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: rs885479

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: R163Q

PubMed Link: 36551302

Variant Present in the following documents:

• Main text
• biomolecules-12-01874.pdf

View BVdb publication page

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Prediction and association analyses of skin phenotypes in Japanese females using genetic, environmental, and physical features.

Skin Research And Technology : Official Journal Of International Society For Bioengineering And The Skin (Isbs) [And] International Society For Digital Imaging Of Skin (Isdis) [And] International Society For Skin Imaging (Issi)

Amano, Satoshi S; Yoshikawa, Tatsuya T; Ito, Chiaki C; Mabuchi, Ikumi I; Kikuchi, Kumiko K; Ooguri, Motoki M; Yasuda, Chie C

Publication Date: 2022-11-27

Variant appearance in text: MC1R: Arg163Gln

PubMed Link: 36437544

Variant Present in the following documents:

• SRT-29-e13231.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: R163Q; rs885479

PubMed Link: 35845857

Variant Present in the following documents:

• crc-21-0114-s01.xlsx, sheet 1

View BVdb publication page

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Discovering Innate Driver Variants for Risk Assessment of Early Colorectal Cancer Metastasis.

Frontiers In Oncology

Ding, Ruo-Fan RF; Zhang, Yun Y; Wu, Lv-Ying LY; You, Pan P; Fang, Zan-Xi ZX; Li, Zhi-Yuan ZY; Zhang, Zhong-Ying ZY; Ji, Zhi-Liang ZL

Publication Date: 2022

Variant appearance in text: rs885479

PubMed Link: 35795065

Variant Present in the following documents:

• Main text
• fonc-12-898117.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: R163Q; rs885479

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl12.xlsx, sheet 1
• advancesADV2021006654-suppl4.xlsx, sheet 22

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: Arg163Gln; rs885479

PubMed Link: 35452484

Variant Present in the following documents:

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

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: R163Q

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: rs885479

PubMed Link: 35176104

Variant Present in the following documents:

• Main text
• pone.0264125.pdf

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: MC1R: R163Q

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs885479

PubMed Link: 34737440

Variant Present in the following documents:

• Main text
• 42003_2021_Article_2764.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: R163Q

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: R163Q

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: R163Q; rs885479

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: R163Q

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: rs885479

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: rs885479

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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Searching for improvements in predicting human eye colour from DNA.

International Journal Of Legal Medicine

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

Publication Date: 2021-11

Variant appearance in text: rs885479

PubMed Link: 34259936

Variant Present in the following documents:

• Main text
• 414_2021_Article_2645.pdf

View BVdb publication page

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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences

Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q

Publication Date: 2021

Variant appearance in text: MC1R: 488G>A; Arg163Gln; rs885479

PubMed Link: 34104084

Variant Present in the following documents:

• ijmsv18p2532s2.xlsx, sheet 1

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: R163Q

PubMed Link: 34067022

Variant Present in the following documents:

• Main text

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: MC1R: 488G>A; R163Q; rs885479

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Examining the molecular basis of coat color in a nocturnal primate family (Lorisidae).

Ecology And Evolution

Munds, Rachel A RA; Titus, Chelsea L CL; Moreira, Lais A A LAA; Eggert, Lori S LS; Blomquist, Gregory E GE

Publication Date: 2021-05

Variant appearance in text: MC1R: R163Q

PubMed Link: 33976821

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: MC1R: Arg163Gln; rs885479

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Hypopigmented burn hypertrophic scar contains melanocytes that can be signaled to re-pigment by synthetic alpha-melanocyte stimulating hormone in vitro.

Plos One

Carney, Bonnie C BC; Travis, Taryn E TE; Moffatt, Lauren T LT; Johnson, Laura S LS; McLawhorn, Melissa M MM; Simbulan-Rosenthal, Cynthia M CM; Rosenthal, Dean S DS; Shupp, Jeffrey W JW

Publication Date: 2021

Variant appearance in text: MC1R: R163Q

PubMed Link: 33765043

Variant Present in the following documents:

• Main text
• pone.0248985.pdf

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: rs885479

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: rs885479

PubMed Link: 33495209

Variant Present in the following documents:

• Main text
• biolopen-10-056523.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs885479

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Sunlight exposure exerts immunomodulatory effects to reduce multiple sclerosis severity.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ostkamp, Patrick P; Salmen, Anke A; Pignolet, Béatrice B; Görlich, Dennis D; Andlauer, Till F M TFM; Schulte-Mecklenbeck, Andreas A; Gonzalez-Escamilla, Gabriel G; Bucciarelli, Florence F; Gennero, Isabelle I; Breuer, Johanna J; Antony, Gisela G; Schneider-Hohendorf, Tilman T; Mykicki, Nadine N; Bayas, Antonios A; Then Bergh, Florian F; Bittner, Stefan S; Hartung, Hans-Peter HP; Friese, Manuel A MA; Linker, Ralf A RA; Luessi, Felix F; Lehmann-Horn, Klaus K; Mühlau, Mark M; Paul, Friedemann F; Stangel, Martin M; Tackenberg, Björn B; Tumani, Hayrettin H; Warnke, Clemens C; Weber, Frank F; Wildemann, Brigitte B; Zettl, Uwe K UK; Ziemann, Ulf U; Müller-Myhsok, Bertram B; Kümpfel, Tania T; Klotz, Luisa L; Meuth, Sven G SG; Zipp, Frauke F; Hemmer, Bernhard B; Hohlfeld, Reinhard R; Brassat, David D; Gold, Ralf R; Gross, Catharina C CC; Lukas, Carsten C; Groppa, Sergiu S; Loser, Karin K; Wiendl, Heinz H; Schwab, Nicholas N; ,

Publication Date: 2021-01-05

Variant appearance in text: rs885479

PubMed Link: 33376202

Variant Present in the following documents:

• Main text

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: R163Q

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: rs885479

PubMed Link: 33318654

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1461.pdf

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: MC1R: 488G>A; R163Q; rs885479

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

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: Arg163Gln; rs885479

PubMed Link: 33248005

Variant Present in the following documents:

• Main text
• PCMR-34-892-s002.xlsx, sheet 7
• 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: R163Q

PubMed Link: 32898390

Variant Present in the following documents:

• Main text

View BVdb publication page

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: MC1R: 488G>A; Arg163Gln

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2

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: R163Q

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: rs885479

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: MC1R: R163Q; rs885479

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Asian Hair: A Review of Structures, Properties, and Distinctive Disorders.

Clinical, Cosmetic And Investigational Dermatology

Leerunyakul, Kanchana K; Suchonwanit, Poonkiat P

Publication Date: 2020

Variant appearance in text: MC1R: Arg163Gln

PubMed Link: 32425573

Variant Present in the following documents:

• Main text

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: R163Q; rs885479

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: R163Q

PubMed Link: 32346747

Variant Present in the following documents:

• Main text
• ActaDV-100-11-5749.pdf

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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: rs885479

PubMed Link: 32303690

Variant Present in the following documents:

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

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Hypertrophic Scarring: Current Knowledge of Predisposing Factors, Cellular and Molecular Mechanisms.

Journal Of Burn Care & Research : Official Publication Of The American Burn Association

Nabai, Layla L; Pourghadiri, Amir A; Ghahary, Aziz A

Publication Date: 2020-01-30

Variant appearance in text: MC1R: R163Q

PubMed Link: 31999336

Variant Present in the following documents:

• Main text

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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: MC1R: R163Q; rs885479

PubMed Link: 31834199

Variant Present in the following documents:

• Main text

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: MC1R: 488G>A; Arg163Gln; rs885479

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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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: 488G>A; Arg163Gln; rs885479

PubMed Link: 31612033

Variant Present in the following documents:

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

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