Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: RAG1: 2459A>G; Lys820Arg
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
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: RAG1: 2459A>G; K820R; rs2227973
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
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: RAG1: K820R; rs2227973
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: RAG1: K820R; rs2227973
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: RAG1: K820R; rs2227973
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.
A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.
Blood Cancer Journal
White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12
Variant appearance in text: RAG1: K820R; rs2227973
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20
Variant appearance in text: RAG1: 2459A>G; K820R; rs2227973
Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
Plos One
Matthews, Adam G W AG; Briggs, Christine E CE; Yamanaka, Keiichi K; Small, Trudy N TN; Mooster, Jana L JL; Bonilla, Francisco A FA; Oettinger, Marjorie A MA; Butte, Manish J MJ
Publication Date: 2015
Variant appearance in text: RAG1: 2459A>G; Lys820Arg; rs2227973
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: RAG1: K820R; rs2227973
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
The Journal Of Allergy And Clinical Immunology
Lee, Yu Nee YN; Frugoni, Francesco F; Dobbs, Kerry K; Walter, Jolan E JE; Giliani, Silvia S; Gennery, Andrew R AR; Al-Herz, Waleed W; Haddad, Elie E; LeDeist, Francoise F; Bleesing, Jack H JH; Henderson, Lauren A LA; Pai, Sung-Yun SY; Nelson, Robert P RP; El-Ghoneimy, Dalia H DH; El-Feky, Reem A RA; Reda, Shereen M SM; Hossny, Elham E; Soler-Palacin, Pere P; Fuleihan, Ramsay L RL; Patel, Niraj C NC; Massaad, Michel J MJ; Geha, Raif S RS; Puck, Jennifer M JM; Palma, Paolo P; Cancrini, Caterina C; Chen, Karin K; Vihinen, Mauno M; Alt, Frederick W FW; Notarangelo, Luigi D LD
Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.
Leukemia
Wang, S S SS; Maurer, M J MJ; Morton, L M LM; Habermann, T M TM; Davis, S S; Cozen, W W; Lynch, C F CF; Severson, R K RK; Rothman, N N; Chanock, S J SJ; Hartge, P P; Cerhan, J R JR
Publication Date: 2009-03
Variant appearance in text: RAG1: K820R; rs2227973
Etiologic heterogeneity among non-Hodgkin lymphoma subtypes.
Blood
Morton, Lindsay M LM; Wang, Sophia S SS; Cozen, Wendy W; Linet, Martha S MS; Chatterjee, Nilanjan N; Davis, Scott S; Severson, Richard K RK; Colt, Joanne S JS; Vasef, Mohammad A MA; Rothman, Nathaniel N; Blair, Aaron A; Bernstein, Leslie L; Cross, Amanda J AJ; De Roos, Anneclaire J AJ; Engels, Eric A EA; Hein, David W DW; Hill, Deirdre A DA; Kelemen, Linda E LE; Lim, Unhee U; Lynch, Charles F CF; Schenk, Maryjean M; Wacholder, Sholom S; Ward, Mary H MH; Hoar Zahm, Shelia S; Chanock, Stephen J SJ; Cerhan, James R JR; Hartge, Patricia P
Publication Date: 2008-12-15
Variant appearance in text: RAG1: K820R; rs2227973
Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Margulis, Vitaly V; Lin, Jie J; Yang, Hushan H; Wang, Wei W; Wood, Christopher G CG; Wu, Xifeng X
Publication Date: 2008-09
Variant appearance in text: RAG1: K820R; rs2227973
Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
Blood
Hill, Deirdre A DA; Wang, Sophia S SS; Cerhan, James R JR; Davis, Scott S; Cozen, Wendy W; Severson, Richard K RK; Hartge, Patricia P; Wacholder, Sholom S; Yeager, Meredith M; Chanock, Stephen J SJ; Rothman, Nathaniel N
Publication Date: 2006-11-01
Variant appearance in text: RAG1: K820R; rs2227973
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
American Journal Of Human Genetics
Wu, Xifeng X; Gu, Jian J; Grossman, H Barton HB; Amos, Christopher I CI; Etzel, Carol C; Huang, Maosheng M; Zhang, Qing Q; Millikan, Randal E RE; Lerner, Seth S; Dinney, Colin P CP; Spitz, Margaret R MR
Publication Date: 2006-03
Variant appearance in text: RAG1: K820R; rs2227973