ZMIZ1 c.1492-136A>C

Variant ID: 10-81058027-A-C

NM_020338.3(ZMIZ1):c.1492-136A>C

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1250552
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: rs1250552
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
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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: rs1250552
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.

Journal Of Human Genetics
Cerqueira, Juliana X M JXM; Saavalainen, Päivi P; Kurppa, Kalle K; Laurikka, Pilvi P; Huhtala, Heini H; Nykter, Matti M; L E Koskinen, Lotta L; Yohannes, Dawit A DA; Kilpeläinen, Elina E; Shcherban, Anastasia A; Palotie, Aarno A; Kaukinen, Katri K; Lindfors, Katri K
Publication Date: 2021-06

Variant appearance in text: rs1250552
PubMed Link: 33446885
Variant Present in the following documents:
  • 10038_2020_888_MOESM2_ESM.xlsx, sheet 1
  • 10038_2020_888_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs1250552
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



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: rs1250552
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1250552
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes.

Bmc Genomics
Singh, Prashant K PK; van den Berg, Patrick R PR; Long, Mark D MD; Vreugdenhil, Angie A; Grieshober, Laurie L; Ochs-Balcom, Heather M HM; Wang, Jianmin J; Delcambre, Sylvie S; Heikkinen, Sami S; Carlberg, Carsten C; Campbell, Moray J MJ; Sucheston-Campbell, Lara E LE
Publication Date: 2017-02-06

Variant appearance in text: rs1250552
PubMed Link: 28166722
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_3481.pdf
View BVdb publication page



Contrasting the Genetic Background of Type 1 Diabetes and Celiac Disease Autoimmunity.

Diabetes Care
Gutierrez-Achury, Javier J; Romanos, Jihane J; Bakker, Sjoerd F SF; Kumar, Vinod V; de Haas, Esther C EC; Trynka, Gosia G; Ricaño-Ponce, Isis I; Steck, Andrea A; , ; Chen, Wei-Min WM; Onengut-Gumuscu, Suna S; Simsek, Suat S; , ; Rewers, Marian M; Mulder, Chris J CJ; Liu, Ed E; Rich, Stephen S SS; Wijmenga, Cisca C
Publication Date: 2015-10

Variant appearance in text: rs1250552
PubMed Link: 26405070
Variant Present in the following documents:
  • Main text
  • dcs152007.pdf
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Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nature Genetics
Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG
Publication Date: 2014-11

Variant appearance in text: rs1250552
PubMed Link: 25305756
Variant Present in the following documents:
  • NIHMS630801-supplement-1.pdf
View BVdb publication page



Evaluation of European coeliac disease risk variants in a north Indian population.

European Journal Of Human Genetics : Ejhg
Senapati, Sabyasachi S; Gutierrez-Achury, Javier J; Sood, Ajit A; Midha, Vandana V; Szperl, Agata A; Romanos, Jihane J; Zhernakova, Alexandra A; Franke, Lude L; Alonso, Santos S; Thelma, B K BK; Wijmenga, Cisca C; Trynka, Gosia G
Publication Date: 2015-04

Variant appearance in text: rs1250552
PubMed Link: 25052311
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

Nature Genetics
Trynka, Gosia G; Hunt, Karen A KA; Bockett, Nicholas A NA; Romanos, Jihane J; Mistry, Vanisha V; Szperl, Agata A; Bakker, Sjoerd F SF; Bardella, Maria Teresa MT; Bhaw-Rosun, Leena L; Castillejo, Gemma G; de la Concha, Emilio G EG; de Almeida, Rodrigo Coutinho RC; Dias, Kerith-Rae M KR; van Diemen, Cleo C CC; Dubois, Patrick C A PC; Duerr, Richard H RH; Edkins, Sarah S; Franke, Lude L; Fransen, Karin K; Gutierrez, Javier J; Heap, Graham A R GA; Hrdlickova, Barbara B; Hunt, Sarah S; Plaza Izurieta, Leticia L; Izzo, Valentina V; Joosten, Leo A B LA; Langford, Cordelia C; Mazzilli, Maria Cristina MC; Mein, Charles A CA; Midah, Vandana V; Mitrovic, Mitja M; Mora, Barbara B; Morelli, Marinita M; Nutland, Sarah S; Núñez, Concepción C; Onengut-Gumuscu, Suna S; Pearce, Kerra K; Platteel, Mathieu M; Polanco, Isabel I; Potter, Simon S; Ribes-Koninckx, Carmen C; Ricaño-Ponce, Isis I; Rich, Stephen S SS; Rybak, Anna A; Santiago, José Luis JL; Senapati, Sabyasachi S; Sood, Ajit A; Szajewska, Hania H; Troncone, Riccardo R; Varadé, Jezabel J; Wallace, Chris C; Wolters, Victorien M VM; Zhernakova, Alexandra A; , ; , ; , ; Thelma, B K BK; Cukrowska, Bozena B; Urcelay, Elena E; Bilbao, Jose Ramon JR; Mearin, M Luisa ML; Barisani, Donatella D; Barrett, Jeffrey C JC; Plagnol, Vincent V; Deloukas, Panos P; Wijmenga, Cisca C; van Heel, David A DA
Publication Date: 2011-11-06

Variant appearance in text: rs1250552
PubMed Link: 22057235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Nature
, ; , ; Sawcer, Stephen S; Hellenthal, Garrett G; Pirinen, Matti M; Spencer, Chris C A CC; Patsopoulos, Nikolaos A NA; Moutsianas, Loukas L; Dilthey, Alexander A; Su, Zhan Z; Freeman, Colin C; Hunt, Sarah E SE; Edkins, Sarah S; Gray, Emma E; Booth, David R DR; Potter, Simon C SC; Goris, An A; Band, Gavin G; Oturai, Annette Bang AB; Strange, Amy A; Saarela, Janna J; Bellenguez, Céline C; Fontaine, Bertrand B; Gillman, Matthew M; Hemmer, Bernhard B; Gwilliam, Rhian R; Zipp, Frauke F; Jayakumar, Alagurevathi A; Martin, Roland R; Leslie, Stephen S; Hawkins, Stanley S; Giannoulatou, Eleni E; D'alfonso, Sandra S; Blackburn, Hannah H; Martinelli Boneschi, Filippo F; Liddle, Jennifer J; Harbo, Hanne F HF; Perez, Marc L ML; Spurkland, Anne A; Waller, Matthew J MJ; Mycko, Marcin P MP; Ricketts, Michelle M; Comabella, Manuel M; Hammond, Naomi N; Kockum, Ingrid I; McCann, Owen T OT; Ban, Maria M; Whittaker, Pamela P; Kemppinen, Anu A; Weston, Paul P; Hawkins, Clive C; Widaa, Sara S; Zajicek, John J; Dronov, Serge S; Robertson, Neil N; Bumpstead, Suzannah J SJ; Barcellos, Lisa F LF; Ravindrarajah, Rathi R; Abraham, Roby R; Alfredsson, Lars L; Ardlie, Kristin K; Aubin, Cristin C; Baker, Amie A; Baker, Katharine K; Baranzini, Sergio E SE; Bergamaschi, Laura L; Bergamaschi, Roberto R; Bernstein, Allan A; Berthele, Achim A; Boggild, Mike M; Bradfield, Jonathan P JP; Brassat, David D; Broadley, Simon A SA; Buck, Dorothea D; Butzkueven, Helmut H; Capra, Ruggero R; Carroll, William M WM; Cavalla, Paola P; Celius, Elisabeth G EG; Cepok, Sabine S; Chiavacci, Rosetta R; Clerget-Darpoux, Françoise F; Clysters, Katleen K; Comi, Giancarlo G; Cossburn, Mark M; Cournu-Rebeix, Isabelle I; Cox, Mathew B MB; Cozen, Wendy W; Cree, Bruce A C BA; Cross, Anne H AH; Cusi, Daniele D; Daly, Mark J MJ; Davis, Emma E; de Bakker, Paul I W PI; Debouverie, Marc M; D'hooghe, Marie Beatrice MB; Dixon, Katherine K; Dobosi, Rita R; Dubois, Bénédicte B; Ellinghaus, David D; Elovaara, Irina I; Esposito, Federica F; Fontenille, Claire C; Foote, Simon S; Franke, Andre A; Galimberti, Daniela D; Ghezzi, Angelo A; Glessner, Joseph J; Gomez, Refujia R; Gout, Olivier O; Graham, Colin C; Grant, Struan F A SF; Guerini, Franca Rosa FR; Hakonarson, Hakon H; Hall, Per P; Hamsten, Anders A; Hartung, Hans-Peter HP; Heard, Rob N RN; Heath, Simon S; Hobart, Jeremy J; Hoshi, Muna M; Infante-Duarte, Carmen C; Ingram, Gillian G; Ingram, Wendy W; Islam, Talat T; Jagodic, Maja M; Kabesch, Michael M; Kermode, Allan G AG; Kilpatrick, Trevor J TJ; Kim, Cecilia C; Klopp, Norman N; Koivisto, Keijo K; Larsson, Malin M; Lathrop, Mark M; Lechner-Scott, Jeannette S JS; Leone, Maurizio A MA; Leppä, Virpi V; Liljedahl, Ulrika U; Bomfim, Izaura Lima IL; Lincoln, Robin R RR; Link, Jenny J; Liu, Jianjun J; Lorentzen, Aslaug R AR; Lupoli, Sara S; Macciardi, Fabio F; Mack, Thomas T; Marriott, Mark M; Martinelli, Vittorio V; Mason, Deborah D; McCauley, Jacob L JL; Mentch, Frank F; Mero, Inger-Lise IL; Mihalova, Tania T; Montalban, Xavier X; Mottershead, John J; Myhr, Kjell-Morten KM; Naldi, Paola P; Ollier, William W; Page, Alison A; Palotie, Aarno A; Pelletier, Jean J; Piccio, Laura L; Pickersgill, Trevor T; Piehl, Fredrik F; Pobywajlo, Susan S; Quach, Hong L HL; Ramsay, Patricia P PP; Reunanen, Mauri M; Reynolds, Richard R; Rioux, John D JD; Rodegher, Mariaemma M; Roesner, Sabine S; Rubio, Justin P JP; Rückert, Ina-Maria IM; Salvetti, Marco M; Salvi, Erika E; Santaniello, Adam A; Schaefer, Catherine A CA; Schreiber, Stefan S; Schulze, Christian C; Scott, Rodney J RJ; Sellebjerg, Finn F; Selmaj, Krzysztof W KW; Sexton, David D; Shen, Ling L; Simms-Acuna, Brigid B; Skidmore, Sheila S; Sleiman, Patrick M A PM; Smestad, Cathrine C; Sørensen, Per Soelberg PS; Søndergaard, Helle Bach HB; Stankovich, Jim J; Strange, Richard C RC; Sulonen, Anna-Maija AM; Sundqvist, Emilie E; Syvänen, Ann-Christine AC; Taddeo, Francesca F; Taylor, Bruce B; Blackwell, Jenefer M JM; Tienari, Pentti P; Bramon, Elvira E; Tourbah, Ayman A; Brown, Matthew A MA; Tronczynska, Ewa E; Casas, Juan P JP; Tubridy, Niall N; Corvin, Aiden A; Vickery, Jane J; Jankowski, Janusz J; Villoslada, Pablo P; Markus, Hugh S HS; Wang, Kai K; Mathew, Christopher G CG; Wason, James J; Palmer, Colin N A CN; Wichmann, H-Erich HE; Plomin, Robert R; Willoughby, Ernest E; Rautanen, Anna A; Winkelmann, Juliane J; Wittig, Michael M; Trembath, Richard C RC; Yaouanq, Jacqueline J; Viswanathan, Ananth C AC; Zhang, Haitao H; Wood, Nicholas W NW; Zuvich, Rebecca R; Deloukas, Panos P; Langford, Cordelia C; Duncanson, Audrey A; Oksenberg, Jorge R JR; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; Olsson, Tomas T; Hillert, Jan J; Ivinson, Adrian J AJ; De Jager, Philip L PL; Peltonen, Leena L; Stewart, Graeme J GJ; Hafler, David A DA; Hauser, Stephen L SL; McVean, Gil G; Donnelly, Peter P; Compston, Alastair A
Publication Date: 2011-08-10

Variant appearance in text: rs1250552
PubMed Link: 21833088
Variant Present in the following documents:
  • NIHMS36028-supplement-1.pdf
View BVdb publication page



Multiple common variants for celiac disease influencing immune gene expression.

Nature Genetics
Dubois, Patrick C A PC; Trynka, Gosia G; Franke, Lude L; Hunt, Karen A KA; Romanos, Jihane J; Curtotti, Alessandra A; Zhernakova, Alexandra A; Heap, Graham A R GA; Adány, Róza R; Aromaa, Arpo A; Bardella, Maria Teresa MT; van den Berg, Leonard H LH; Bockett, Nicholas A NA; de la Concha, Emilio G EG; Dema, Bárbara B; Fehrmann, Rudolf S N RS; Fernández-Arquero, Miguel M; Fiatal, Szilvia S; Grandone, Elvira E; Green, Peter M PM; Groen, Harry J M HJ; Gwilliam, Rhian R; Houwen, Roderick H J RH; Hunt, Sarah E SE; Kaukinen, Katri K; Kelleher, Dermot D; Korponay-Szabo, Ilma I; Kurppa, Kalle K; MacMathuna, Padraic P; Mäki, Markku M; Mazzilli, Maria Cristina MC; McCann, Owen T OT; Mearin, M Luisa ML; Mein, Charles A CA; Mirza, Muddassar M MM; Mistry, Vanisha V; Mora, Barbara B; Morley, Katherine I KI; Mulder, Chris J CJ; Murray, Joseph A JA; Núñez, Concepción C; Oosterom, Elvira E; Ophoff, Roel A RA; Polanco, Isabel I; Peltonen, Leena L; Platteel, Mathieu M; Rybak, Anna A; Salomaa, Veikko V; Schweizer, Joachim J JJ; Sperandeo, Maria Pia MP; Tack, Greetje J GJ; Turner, Graham G; Veldink, Jan H JH; Verbeek, Wieke H M WH; Weersma, Rinse K RK; Wolters, Victorien M VM; Urcelay, Elena E; Cukrowska, Bozena B; Greco, Luigi L; Neuhausen, Susan L SL; McManus, Ross R; Barisani, Donatella D; Deloukas, Panos P; Barrett, Jeffrey C JC; Saavalainen, Paivi P; Wijmenga, Cisca C; van Heel, David A DA
Publication Date: 2010-04

Variant appearance in text: rs1250552
PubMed Link: 20190752
Variant Present in the following documents:
  • Main text
View BVdb publication page