UBTF c.59-265T>G

Variant ID: 17-42294337-A-C

NM_014233.3(UBTF):c.59-265T>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations.

Biomedicines
Oliveira, Ana Rafaela AR; Martins, Solange S; Cammarata, Giuseppe G; Martins, Mariana M; Cardoso, Ana Maria AM; Almeida, Maria Rosário MR; do Carmo Macário, Maria M; Santana, Isabel I; Peça, João J; Cardoso, Ana Luísa AL
Publication Date: 2022-08-06

Variant appearance in text: rs2269906
PubMed Link: 36009452
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01905.pdf
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The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.

Frontiers In Neurology
Germer, Elisabeth Luisa EL; Imhoff, Sophie S; Vilariño-Güell, Carles C; Kasten, Meike M; Seibler, Philip P; Brüggemann, Norbert N; , ; Klein, Christine C; Trinh, Joanne J
Publication Date: 2019

Variant appearance in text: rs2269906
PubMed Link: 31920912
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis.

Elife
Nandakumar, Satish K SK; McFarland, Sean K SK; Mateyka, Laura M LM; Lareau, Caleb A CA; Ulirsch, Jacob C JC; Ludwig, Leif S LS; Agarwal, Gaurav G; Engreitz, Jesse M JM; Przychodzen, Bartlomiej B; McConkey, Marie M; Cowley, Glenn S GS; Doench, John G JG; Maciejewski, Jaroslaw P JP; Ebert, Benjamin L BL; Root, David E DE; Sankaran, Vijay G VG
Publication Date: 2019-05-09

Variant appearance in text: rs2269906
PubMed Link: 31070582
Variant Present in the following documents:
  • elife-44080.pdf
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: UBTF: 59-265T>G; rs2269906
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
Publication Date: 2014-10-29

Variant appearance in text: rs2269906
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
View BVdb publication page



Seventy-five genetic loci influencing the human red blood cell.

Nature
van der Harst, Pim P; Zhang, Weihua W; Mateo Leach, Irene I; Rendon, Augusto A; Verweij, Niek N; Sehmi, Joban J; Paul, Dirk S DS; Elling, Ulrich U; Allayee, Hooman H; Li, Xinzhong X; Radhakrishnan, Aparna A; Tan, Sian-Tsung ST; Voss, Katrin K; Weichenberger, Christian X CX; Albers, Cornelis A CA; Al-Hussani, Abtehale A; Asselbergs, Folkert W FW; Ciullo, Marina M; Danjou, Fabrice F; Dina, Christian C; Esko, Tõnu T; Evans, David M DM; Franke, Lude L; Gögele, Martin M; Hartiala, Jaana J; Hersch, Micha M; Holm, Hilma H; Hottenga, Jouke-Jan JJ; Kanoni, Stavroula S; Kleber, Marcus E ME; Lagou, Vasiliki V; Langenberg, Claudia C; Lopez, Lorna M LM; Lyytikäinen, Leo-Pekka LP; Melander, Olle O; Murgia, Federico F; Nolte, Ilja M IM; O'Reilly, Paul F PF; Padmanabhan, Sandosh S; Parsa, Afshin A; Pirastu, Nicola N; Porcu, Eleonora E; Portas, Laura L; Prokopenko, Inga I; Ried, Janina S JS; Shin, So-Youn SY; Tang, Clara S CS; Teumer, Alexander A; Traglia, Michela M; Ulivi, Sheila S; Westra, Harm-Jan HJ; Yang, Jian J; Zhao, Jing Hua JH; Anni, Franco F; Abdellaoui, Abdel A; Attwood, Antony A; Balkau, Beverley B; Bandinelli, Stefania S; Bastardot, François F; Benyamin, Beben B; Boehm, Bernhard O BO; Cookson, William O WO; Das, Debashish D; de Bakker, Paul I W PI; de Boer, Rudolf A RA; de Geus, Eco J C EJ; de Moor, Marleen H MH; Dimitriou, Maria M; Domingues, Francisco S FS; Döring, Angela A; Engström, Gunnar G; Eyjolfsson, Gudmundur Ingi GI; Ferrucci, Luigi L; Fischer, Krista K; Galanello, Renzo R; Garner, Stephen F SF; Genser, Bernd B; Gibson, Quince D QD; Girotto, Giorgia G; Gudbjartsson, Daniel Fannar DF; Harris, Sarah E SE; Hartikainen, Anna-Liisa AL; Hastie, Claire E CE; Hedblad, Bo B; Illig, Thomas T; Jolley, Jennifer J; Kähönen, Mika M; Kema, Ido P IP; Kemp, John P JP; Liang, Liming L; Lloyd-Jones, Heather H; Loos, Ruth J F RJ; Meacham, Stuart S; Medland, Sarah E SE; Meisinger, Christa C; Memari, Yasin Y; Mihailov, Evelin E; Miller, Kathy K; Moffatt, Miriam F MF; Nauck, Matthias M; Novatchkova, Maria M; Nutile, Teresa T; Olafsson, Isleifur I; Onundarson, Pall T PT; Parracciani, Debora D; Penninx, Brenda W BW; Perseu, Lucia L; Piga, Antonio A; Pistis, Giorgio G; Pouta, Anneli A; Puc, Ursula U; Raitakari, Olli O; Ring, Susan M SM; Robino, Antonietta A; Ruggiero, Daniela D; Ruokonen, Aimo A; Saint-Pierre, Aude A; Sala, Cinzia C; Salumets, Andres A; Sambrook, Jennifer J; Schepers, Hein H; Schmidt, Carsten Oliver CO; Silljé, Herman H W HH; Sladek, Rob R; Smit, Johannes H JH; Starr, John M JM; Stephens, Jonathan J; Sulem, Patrick P; Tanaka, Toshiko T; Thorsteinsdottir, Unnur U; Tragante, Vinicius V; van Gilst, Wiek H WH; van Pelt, L Joost LJ; van Veldhuisen, Dirk J DJ; Völker, Uwe U; Whitfield, John B JB; Willemsen, Gonneke G; Winkelmann, Bernhard R BR; Wirnsberger, Gerald G; Algra, Ale A; Cucca, Francesco F; d'Adamo, Adamo Pio AP; Danesh, John J; Deary, Ian J IJ; Dominiczak, Anna F AF; Elliott, Paul P; Fortina, Paolo P; Froguel, Philippe P; Gasparini, Paolo P; Greinacher, Andreas A; Hazen, Stanley L SL; Jarvelin, Marjo-Riitta MR; Khaw, Kay Tee KT; Lehtimäki, Terho T; Maerz, Winfried W; Martin, Nicholas G NG; Metspalu, Andres A; Mitchell, Braxton D BD; Montgomery, Grant W GW; Moore, Carmel C; Navis, Gerjan G; Pirastu, Mario M; Pramstaller, Peter P PP; Ramirez-Solis, Ramiro R; Schadt, Eric E; Scott, James J; Shuldiner, Alan R AR; Smith, George Davey GD; Smith, J Gustav JG; Snieder, Harold H; Sorice, Rossella R; Spector, Tim D TD; Stefansson, Kari K; Stumvoll, Michael M; Tang, W H Wilson WH; Toniolo, Daniela D; Tönjes, Anke A; Visscher, Peter M PM; Vollenweider, Peter P; Wareham, Nicholas J NJ; Wolffenbuttel, Bruce H R BH; Boomsma, Dorret I DI; Beckmann, Jacques S JS; Dedoussis, George V GV; Deloukas, Panos P; Ferreira, Manuel A MA; Sanna, Serena S; Uda, Manuela M; Hicks, Andrew A AA; Penninger, Josef Martin JM; Gieger, Christian C; Kooner, Jaspal S JS; Ouwehand, Willem H WH; Soranzo, Nicole N; Chambers, John C JC
Publication Date: 2012-12-20

Variant appearance in text: rs2269906
PubMed Link: 23222517
Variant Present in the following documents:
  • Main text
View BVdb publication page