Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis.
Life (Basel, Switzerland)
Sevilla, Arrate A; Sánchez-Diez, Ana A; Cobo, Sofía S; Izagirre, Neskuts N; Martinez-Cadenas, Conrado C; Martí, Rosa M RM; Puértolas, Teresa T; de Unamuno, Blanca B; Bañuls, José J; Izu, Rosa R; Gardeazabal, Jesús J; Asumendi, Aintzane A; Boyano, María D MD; Alonso, Santos S
Publication Date: 2022-12-01
Variant appearance in text: TYR: 575C>A; rs1042602
Foveal Curvature and Its Associations in UK Biobank Participants.
Investigative Ophthalmology & Visual Science
Olvera-Barrios, Abraham A; Kihara, Yuka Y; Wu, Yue Y; N Warwick, Alasdair A; Müller, Philipp L PL; Williams, Katie M KM; Rudnicka, Alicja R AR; Owen, Christopher G CG; Lee, Aaron Y AY; Egan, Catherine C; Tufail, Adnan A; ,
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Nature Communications
Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Publication Date: 2022-07-08
Variant appearance in text: TYR: 575C>A; rs1042602
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
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Npj Genomic Medicine
Lin, Siying S; Sanchez-Bretaño, Aida A; Leslie, Joseph S JS; Williams, Katie B KB; Lee, Helena H; Thomas, N Simon NS; Callaway, Jonathan J; Deline, James J; Ratnayaka, J Arjuna JA; Baralle, Diana D; Schmitt, Melanie A MA; Norman, Chelsea S CS; Hammond, Sheri S; Harlalka, Gaurav V GV; Ennis, Sarah S; Cross, Harold E HE; Wenger, Olivia O; Crosby, Andrew H AH; Baple, Emma L EL; Self, Jay E JE
Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.
Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.
Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Genomic transformation and social organization during the Copper Age-Bronze Age transition in southern Iberia.
Science Advances
Villalba-Mouco, Vanessa V; Oliart, Camila C; Rihuete-Herrada, Cristina C; Childebayeva, Ainash A; Rohrlach, Adam B AB; Fregeiro, María Inés MI; Celdrán Beltrán, Eva E; Velasco-Felipe, Carlos C; Aron, Franziska F; Himmel, Marie M; Freund, Caecilia C; Alt, Kurt W KW; Salazar-García, Domingo C DC; García Atiénzar, Gabriel G; de Miguel Ibáñez, Ma Paz MP; Hernández Pérez, Mauro S MS; Barciela, Virginia V; Romero, Alejandro A; Ponce, Juana J; Martínez, Andrés A; Lomba, Joaquín J; Soler, Jorge J; Martínez, Ana Pujante AP; Avilés Fernández, Azucena A; Haber-Uriarte, María M; Roca de Togores Muñoz, Consuelo C; Olalde, Iñigo I; Lalueza-Fox, Carles C; Reich, David D; Krause, Johannes J; García Sanjuán, Leonardo L; Lull, Vicente V; Micó, Rafael R; Risch, Roberto R; Haak, Wolfgang W
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Translational Vision Science & Technology
Litts, Katie M KM; Woertz, Erica N EN; Wynne, Niamh N; Brooks, Brian P BP; Chacon, Alicia A; Connor, Thomas B TB; Costakos, Deborah D; Dumitrescu, Alina A; Drack, Arlene V AV; Fishman, Gerald A GA; Hauswirth, William W WW; Kay, Christine N CN; Lam, Byron L BL; Michaelides, Michel M; Pennesi, Mark E ME; Stepien, Kimberly E KE; Strul, Sasha S; Summers, C Gail CG; Carroll, Joseph J
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
Plos Genetics
Currant, Hannah H; Hysi, Pirro P; Fitzgerald, Tomas W TW; Gharahkhani, Puya P; Bonnemaijer, Pieter W M PWM; Senabouth, Anne A; Hewitt, Alex W AW; , ; , ; Atan, Denize D; Aung, Tin T; Charng, Jason J; Choquet, Hélène H; Craig, Jamie J; Khaw, Peng T PT; Klaver, Caroline C W CCW; Kubo, Michiaki M; Ong, Jue-Sheng JS; Pasquale, Louis R LR; Reisman, Charles A CA; Daniszewski, Maciej M; Powell, Joseph E JE; Pébay, Alice A; Simcoe, Mark J MJ; Thiadens, Alberta A H J AAHJ; van Duijn, Cornelia M CM; Yazar, Seyhan S; Jorgenson, Eric E; MacGregor, Stuart S; Hammond, Chris J CJ; Mackey, David A DA; Wiggs, Janey L JL; Foster, Paul J PJ; Patel, Praveen J PJ; Birney, Ewan E; Khawaja, Anthony P AP
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
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
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12
Variant appearance in text: TYR: 575C>A; S192Y; rs1042602
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Plos One
Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA
Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wood, Renee P RP; Heyworth, Jane S JS; McCarthy, Nina S NS; Mauguen, Audrey A; Berwick, Marianne M; Thomas, Nancy E NE; Millward, Michael J MJ; Anton-Culver, Hoda H; Cust, Anne E AE; Dwyer, Terence T; Gallagher, Richard P RP; Gruber, Stephen B SB; Kanetsky, Peter A PA; Orlow, Irene I; Rosso, Stefano S; Moses, Eric K EK; Begg, Colin B CB; Ward, Sarah V SV
Genetics of Smoking Behaviors in American Indians.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Henderson, Jeffrey A JA; Buchwald, Dedra S DS; Howard, Barbara V BV; Henderson, Patricia Nez PN; Li, Yafang Y; Tyndale, Rachel F RF; Amos, Christopher I CI; Gorlova, Olga Y OY; ,
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.
Bmc Medical Genomics
Winkler, Thomas W TW; Grassmann, Felix F; Brandl, Caroline C; Kiel, Christina C; Günther, Felix F; Strunz, Tobias T; Weidner, Lorraine L; Zimmermann, Martina E ME; Korb, Christina A CA; Poplawski, Alicia A; Schuster, Alexander K AK; Müller-Nurasyid, Martina M; Peters, Annette A; Rauscher, Franziska G FG; Elze, Tobias T; Horn, Katrin K; Scholz, Markus M; Cañadas-Garre, Marisa M; McKnight, Amy Jayne AJ; Quinn, Nicola N; Hogg, Ruth E RE; Küchenhoff, Helmut H; Heid, Iris M IM; Stark, Klaus J KJ; Weber, Bernhard H F BHF
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
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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