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: CD79B: 366T>C; C122C; rs2070776
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 comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05
Variant appearance in text: CD79B: 366T>C; C122C; rs2070776
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: CD79B: 366T>C; C122C; rs2070776
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
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: CD79B: C122C; rs2070776
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
Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.
Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08
Variant appearance in text: CD79B: 366T>C; C122C; rs2070776
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Data on genetic associations of carotid atherosclerosis markers in Mexican American and European American rheumatoid arthritis subjects.
Data In Brief
Arya, Rector R; Escalante, Agustin A; Farook, Vidya S VS; Restrepo, Jose F JF; Battafarano, Daniel F DF; Almeida, Marcio M; Kos, Mark Z MZ; Fourcaudot, Marcel J MJ; Mummidi, Srinivas S; Kumar, Satish S; Curran, Joanne E JE; Jenkinson, Christopher P CP; Blangero, John J; Duggirala, Ravindranath R; Del Rincon, Inmaculada I
A genetic association study of carotid intima-media thickness (CIMT) and plaque in Mexican Americans and European Americans with rheumatoid arthritis.
Atherosclerosis
Arya, Rector R; Escalante, Agustin A; Farook, Vidya S VS; Restrepo, Jose F JF; Battafarano, Daniel F DF; Almeida, Marcio M; Kos, Mark Z MZ; Fourcaudot, Marcel J MJ; Mummidi, Srinivas S; Kumar, Satish S; Curran, Joanne E JE; Jenkinson, Christopher P CP; Blangero, John J; Duggirala, Ravindranath R; Del Rincon, Inmaculada I
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Clinical Immunology (Orlando, Fla.)
Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
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: CD79B: C122C; rs2070776
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15
Variant appearance in text: CD79B: 366T>C; C122C; rs2070776
VR09 cell line: an EBV-positive lymphoblastoid cell line with in vivo characteristics of diffuse large B cell lymphoma of activated B-cell type.
Plos One
Nichele, Ilaria I; Zamò, Alberto A; Bertolaso, Anna A; Bifari, Francesco F; Tinelli, Martina M; Franchini, Marta M; Stradoni, Roberta R; Aprili, Fiorenza F; Pizzolo, Giovanni G; Krampera, Mauro M
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Nature
Lango Allen, Hana H; Estrada, Karol K; Lettre, Guillaume G; Berndt, Sonja I SI; Weedon, Michael N MN; Rivadeneira, Fernando F; Willer, Cristen J CJ; Jackson, Anne U AU; Vedantam, Sailaja S; Raychaudhuri, Soumya S; Ferreira, Teresa T; Wood, Andrew R AR; Weyant, Robert J RJ; Segrè, Ayellet V AV; Speliotes, Elizabeth K EK; Wheeler, Eleanor E; Soranzo, Nicole N; Park, Ju-Hyun JH; Yang, Jian J; Gudbjartsson, Daniel D; Heard-Costa, Nancy L NL; Randall, Joshua C JC; Qi, Lu L; Vernon Smith, Albert A; Mägi, Reedik R; Pastinen, Tomi T; Liang, Liming L; Heid, Iris M IM; Luan, Jian'an J; Thorleifsson, Gudmar G; Winkler, Thomas W TW; Goddard, Michael E ME; Sin Lo, Ken K; Palmer, Cameron C; Workalemahu, Tsegaselassie T; Aulchenko, Yurii S YS; Johansson, Asa A; Zillikens, M Carola MC; Feitosa, Mary F MF; Esko, Tõnu T; Johnson, Toby T; Ketkar, Shamika S; Kraft, Peter P; Mangino, Massimo M; Prokopenko, Inga I; Absher, Devin D; Albrecht, Eva E; Ernst, Florian F; Glazer, Nicole L NL; Hayward, Caroline C; Hottenga, Jouke-Jan JJ; Jacobs, Kevin B KB; Knowles, Joshua W JW; Kutalik, Zoltán Z; Monda, Keri L KL; Polasek, Ozren O; Preuss, Michael M; Rayner, Nigel W NW; Robertson, Neil R NR; Steinthorsdottir, Valgerdur V; Tyrer, Jonathan P JP; Voight, Benjamin F BF; Wiklund, Fredrik F; Xu, Jianfeng J; Zhao, Jing Hua JH; Nyholt, Dale R DR; Pellikka, Niina N; Perola, Markus M; Perry, John R B JR; Surakka, Ida I; Tammesoo, Mari-Liis ML; Altmaier, Elizabeth L EL; Amin, Najaf N; Aspelund, Thor T; Bhangale, Tushar T; Boucher, Gabrielle G; Chasman, Daniel I DI; Chen, Constance C; Coin, Lachlan L; Cooper, Matthew N MN; Dixon, Anna L AL; Gibson, Quince Q; Grundberg, Elin E; Hao, Ke K; Juhani Junttila, M M; Kaplan, Lee M LM; Kettunen, Johannes J; König, Inke R IR; Kwan, Tony T; Lawrence, Robert W RW; Levinson, Douglas F DF; Lorentzon, Mattias M; McKnight, Barbara B; Morris, Andrew P AP; Müller, Martina M; Suh Ngwa, Julius J; Purcell, Shaun S; Rafelt, Suzanne S; Salem, Rany M RM; Salvi, Erika E; Sanna, Serena S; Shi, Jianxin J; Sovio, Ulla U; Thompson, John R JR; Turchin, Michael C MC; Vandenput, Liesbeth L; Verlaan, Dominique J DJ; Vitart, Veronique V; White, Charles C CC; Ziegler, Andreas A; Almgren, Peter P; Balmforth, Anthony J AJ; Campbell, Harry H; Citterio, Lorena L; De Grandi, Alessandro A; Dominiczak, Anna A; Duan, Jubao J; Elliott, Paul P; Elosua, Roberto R; Eriksson, Johan G JG; Freimer, Nelson B NB; Geus, Eco J C EJ; Glorioso, Nicola N; Haiqing, Shen S; Hartikainen, Anna-Liisa AL; Havulinna, Aki S AS; Hicks, Andrew A AA; Hui, Jennie J; Igl, Wilmar W; Illig, Thomas T; Jula, Antti A; Kajantie, Eero E; Kilpeläinen, Tuomas O TO; Koiranen, Markku M; Kolcic, Ivana I; Koskinen, Seppo S; Kovacs, Peter P; Laitinen, Jaana J; Liu, Jianjun J; Lokki, Marja-Liisa ML; Marusic, Ana A; Maschio, Andrea A; Meitinger, Thomas T; Mulas, Antonella A; Paré, Guillaume G; Parker, Alex N AN; Peden, John F JF; Petersmann, Astrid A; Pichler, Irene I; Pietiläinen, Kirsi H KH; Pouta, Anneli A; Ridderstråle, Martin M; Rotter, Jerome I JI; Sambrook, Jennifer G JG; Sanders, Alan R AR; Schmidt, Carsten Oliver CO; Sinisalo, Juha J; Smit, Jan H JH; Stringham, Heather M HM; Bragi Walters, G G; Widen, Elisabeth E; Wild, Sarah H SH; Willemsen, Gonneke G; Zagato, Laura L; Zgaga, Lina L; Zitting, Paavo P; Alavere, Helene H; Farrall, Martin M; McArdle, Wendy L WL; Nelis, Mari M; Peters, Marjolein J MJ; Ripatti, Samuli S; van Meurs, Joyce B J JB; Aben, Katja K KK; Ardlie, Kristin G KG; Beckmann, Jacques S JS; Beilby, John P JP; Bergman, Richard N RN; Bergmann, Sven S; Collins, Francis S FS; Cusi, Daniele D; den Heijer, Martin M; Eiriksdottir, Gudny G; Gejman, Pablo V PV; Hall, Alistair S AS; Hamsten, Anders A; Huikuri, Heikki V HV; Iribarren, Carlos C; Kähönen, Mika M; Kaprio, Jaakko J; Kathiresan, Sekar S; Kiemeney, Lambertus L; Kocher, Thomas T; Launer, Lenore J LJ; Lehtimäki, Terho T; Melander, Olle O; Mosley, Tom H TH; Musk, Arthur W AW; Nieminen, Markku S MS; O'Donnell, Christopher J CJ; Ohlsson, Claes C; Oostra, Ben B; Palmer, Lyle J LJ; Raitakari, Olli O; Ridker, Paul M PM; Rioux, John D JD; Rissanen, Aila A; Rivolta, Carlo C; Schunkert, Heribert H; Shuldiner, Alan R AR; Siscovick, David S DS; Stumvoll, Michael M; Tönjes, Anke A; Tuomilehto, Jaakko J; van Ommen, Gert-Jan GJ; Viikari, Jorma J; Heath, Andrew C AC; Martin, Nicholas G NG; Montgomery, Grant W GW; Province, Michael A MA; Kayser, Manfred M; Arnold, Alice M AM; Atwood, Larry D LD; Boerwinkle, Eric E; Chanock, Stephen J SJ; Deloukas, Panos P; Gieger, Christian C; Grönberg, Henrik H; Hall, Per P; Hattersley, Andrew T AT; Hengstenberg, Christian C; Hoffman, Wolfgang W; Lathrop, G Mark GM; Salomaa, Veikko V; Schreiber, Stefan S; Uda, Manuela M; Waterworth, Dawn D; Wright, Alan F AF; Assimes, Themistocles L TL; Barroso, Inês I; Hofman, Albert A; Mohlke, Karen L KL; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Cupples, L Adrienne LA; Erdmann, Jeanette J; Fox, Caroline S CS; Gudnason, Vilmundur V; Gyllensten, Ulf U; Harris, Tamara B TB; Hayes, Richard B RB; Jarvelin, Marjo-Riitta MR; Mooser, Vincent V; Munroe, Patricia B PB; Ouwehand, Willem H WH; Penninx, Brenda W BW; Pramstaller, Peter P PP; Quertermous, Thomas T; Rudan, Igor I; Samani, Nilesh J NJ; Spector, Timothy D TD; Völzke, Henry H; Watkins, Hugh H; Wilson, James F JF; Groop, Leif C LC; Haritunians, Talin T; Hu, Frank B FB; Kaplan, Robert C RC; Metspalu, Andres A; North, Kari E KE; Schlessinger, David D; Wareham, Nicholas J NJ; Hunter, David J DJ; O'Connell, Jeffrey R JR; Strachan, David P DP; Wichmann, H-Erich HE; Borecki, Ingrid B IB; van Duijn, Cornelia M CM; Schadt, Eric E EE; Thorsteinsdottir, Unnur U; Peltonen, Leena L; Uitterlinden, André G AG; Visscher, Peter M PM; Chatterjee, Nilanjan N; Loos, Ruth J F RJ; Boehnke, Michael M; McCarthy, Mark I MI; Ingelsson, Erik E; Lindgren, Cecilia M CM; Abecasis, Gonçalo R GR; Stefansson, Kari K; Frayling, Timothy M TM; Hirschhorn, Joel N JN