Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
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: T314T; rs2228478
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
Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.
Plos Genetics
Batai, Ken K; Cui, Zuxi Z; Arora, Amit A; Shah-Williams, Ebony E; Hernandez, Wenndy W; Ruden, Maria M; Hollowell, Courtney M P CMP; Hooker, Stanley E SE; Bathina, Madhavi M; Murphy, Adam B AB; Bonilla, Carolina C; Kittles, Rick A RA
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: T314T; rs2228478
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: MC1R: T314T; rs2228478
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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
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: T314T; rs2228478
Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.
Peerj
Li, Xiaohong X; Lee, Katie J KJ; Duffy, David L DL; Xu, Dandan D; Basude, Madhur Eshwar Rao MER; Hu, Ying Y; Zhang, Hang H; Jagirdar, Kasturee K; Soyer, H Peter HP; Dong, Huiting H; Sturm, Richard A RA
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Oncotarget
Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D
The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
Neurobiology Of Aging
Gan-Or, Ziv Z; Mohsin, Noreen N; Girard, Simon L SL; Montplaisir, Jacques Y JY; Ambalavanan, Amirthagowri A; Strong, Stephanie S; Mallett, Victoria V; Laurent, Sandra B SB; Bourassa, Cynthia V CV; Boivin, Michel M; Langlois, Melanie M; Arnulf, Isabelle I; Högl, Birgit B; Frauscher, Birgit B; Monaca, Christelle C; Desautels, Alex A; Gagnon, Jean-François JF; Postuma, Ronald B RB; Dion, Patrick A PA; Dauvilliers, Yves Y; Dupre, Nicolas N; Alcalay, Roy N RN; Rouleau, Guy A GA
MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region.
Bmc Genetics
Norton, Heather L HL; Werren, Elizabeth E; Friedlaender, Jonathan J
Publication Date: 2015-10-19
Variant appearance in text: MC1R: T314T; rs2228478
Race and Melanocortin 1 Receptor Polymorphism R163Q Are Associated with Post-Burn Hypertrophic Scarring: A Prospective Cohort Study.
The Journal Of Investigative Dermatology
Sood, Ravi F RF; Hocking, Anne M AM; Muffley, Lara A LA; Ga, Maricar M; Honari, Shari S; Reiner, Alexander P AP; Rowhani-Rahbar, Ali A; Gibran, Nicole S NS
Publication Date: 2015-10
Variant appearance in text: MC1R: T314T; rs2228478
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: MC1R: T314T; rs2228478
Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).
The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Publication Date: 2015-04
Variant appearance in text: MC1R: T314T; rs2228478
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
Journal Of Medical Genetics
Puntervoll, Hanne Eknes HE; Yang, Xiaohong R XR; Vetti, Hildegunn Høberg HH; Bachmann, Ingeborg M IM; Avril, Marie Françoise MF; Benfodda, Meriem M; Catricalà, Caterina C; Dalle, Stéphane S; Duval-Modeste, Anne B AB; Ghiorzo, Paola P; Grammatico, Paola P; Harland, Mark M; Hayward, Nicholas K NK; Hu, Hui-Han HH; Jouary, Thomas T; Martin-Denavit, Tanguy T; Ozola, Aija A; Palmer, Jane M JM; Pastorino, Lorenza L; Pjanova, Dace D; Soufir, Nadem N; Steine, Solrun J SJ; Stratigos, Alexander J AJ; Thomas, Luc L; Tinat, Julie J; Tsao, Hensin H; Veinalde, Ruta R; Tucker, Margaret A MA; Bressac-de Paillerets, Brigitte B; Newton-Bishop, Julia A JA; Goldstein, Alisa M AM; Akslen, Lars A LA; Molven, Anders A
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.
Journal Of Dermatological Science
Hawkes, Jason E JE; Cassidy, Pamela B PB; Manga, Prashiela P; Boissy, Raymond E RE; Goldgar, David D; Cannon-Albright, Lisa L; Florell, Scott R SR; Leachman, Sancy A SA
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.
The Journal Of Investigative Dermatology
Kinsler, Veronica A VA; Abu-Amero, Sayeda S; Budd, Peter P; Jackson, Ian J IJ; Ring, Susan M SM; Northstone, Kate K; Atherton, David J DJ; Bulstrode, Neil W NW; Stanier, Philip P; Hennekam, Raoul C RC; Sebire, Neil J NJ; Moore, Gudrun E GE; Healy, Eugene E
MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.
International Journal Of Cancer
Cust, Anne E AE; Goumas, Chris C; Holland, Elizabeth A EA; Agha-Hamilton, Chantelle C; Aitken, Joanne F JF; Armstrong, Bruce K BK; Giles, Graham G GG; Kefford, Richard F RF; Schmid, Helen H; Hopper, John L JL; Mann, Graham J GJ; Jenkins, Mark A MA
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Journal Of The National Cancer Institute
Demenais, F F; Mohamdi, H H; Chaudru, V V; Goldstein, A M AM; Newton Bishop, J A JA; Bishop, D T DT; Kanetsky, P A PA; Hayward, N K NK; Gillanders, E E; Elder, D E DE; Avril, M F MF; Azizi, E E; van Belle, P P; Bergman, W W; Bianchi-Scarrà, G G; Bressac-de Paillerets, B B; Calista, D D; Carrera, C C; Hansson, J J; Harland, M M; Hogg, D D; Höiom, V V; Holland, E A EA; Ingvar, C C; Landi, M T MT; Lang, J M JM; Mackie, R M RM; Mann, G J GJ; Ming, M E ME; Njauw, C J CJ; Olsson, H H; Palmer, J J; Pastorino, L L; Puig, S S; Randerson-Moor, J J; Stark, M M; Tsao, H H; Tucker, M A MA; van der Velden, P P; Yang, X R XR; Gruis, N N; ,
Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.
Human Genetics
Keene, Keith L KL; Mychaleckyj, Josyf C JC; Leak, Tennille S TS; Smith, Shelly G SG; Perlegas, Peter S PS; Divers, Jasmin J; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW; Sale, Michèle M MM
Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.
Bmc Genetics
Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT