Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: RB1CC1: 4668T>C; Leu1556=
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: RB1CC1: 4668T>C; Leu1556=
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
VEGF-A, VEGFR1 and VEGFR2 single nucleotide polymorphisms and outcomes from the AGITG MAX trial of capecitabine, bevacizumab and mitomycin C in metastatic colorectal cancer.
Scientific Reports
Chionh, Fiona F; Gebski, Val V; Al-Obaidi, Sheren J SJ; Mooi, Jennifer K JK; Bruhn, Maressa A MA; Lee, Chee K CK; Chüeh, Anderly C AC; Williams, David S DS; Weickhardt, Andrew J AJ; Wilson, Kate K; Scott, Andrew M AM; Simes, John J; Hardingham, Jennifer E JE; Price, Timothy J TJ; Mariadason, John M JM; Tebbutt, Niall C NC
VEGF-A, VEGFR1 and VEGFR2 single nucleotide polymorphisms and outcomes from the AGITG MAX trial of capecitabine, bevacizumab and mitomycin C in metastatic colorectal cancer.
Scientific Reports
Chionh, Fiona F; Gebski, Val V; Al-Obaidi, Sheren J SJ; Mooi, Jennifer K JK; Bruhn, Maressa A MA; Lee, Chee K CK; Chüeh, Anderly C AC; Williams, David S DS; Weickhardt, Andrew J AJ; Wilson, Kate K; Scott, Andrew M AM; Simes, John J; Hardingham, Jennifer E JE; Price, Timothy J TJ; Mariadason, John M JM; Tebbutt, Niall C NC
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: RB1CC1: L1556L; rs1129660
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.
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: RB1CC1: L1556L; rs1129660
Autophagy-related polymorphisms predict hypertension in patients with metastatic colorectal cancer treated with FOLFIRI and bevacizumab: Results from TRIBE and FIRE-3 trials.
European Journal Of Cancer (Oxford, England : 1990)
Berger, Martin D MD; Yamauchi, Shinichi S; Cao, Shu S; Hanna, Diana L DL; Sunakawa, Yu Y; Schirripa, Marta M; Matsusaka, Satoshi S; Yang, Dongyun D; Groshen, Susan S; Zhang, Wu W; Ning, Yan Y; Okazaki, Satoshi S; Miyamoto, Yuji Y; Suenaga, Mitsukuni M; Lonardi, Sara S; Cremolini, Chiara C; Falcone, Alfredo A; Heinemann, Volker V; Loupakis, Fotios F; Stintzing, Sebastian S; Lenz, Heinz-Josef HJ
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: RB1CC1: L1556L; rs1129660