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: LRRK2: 4911A>G; K1637K; rs11176013
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
Deep resequencing identifies candidate functional genes in leprosy GWAS loci.
Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12
Variant appearance in text: LRRK2: K1637K; rs11176013
Deep resequencing identifies candidate functional genes in leprosy GWAS loci.
Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12-08
Variant appearance in text: LRRK2: K1637K; rs11176013
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: LRRK2: 4911A>G; K1637K; rs11176013
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.
Bmc Medical Genetics
Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S
Publication Date: 2020-02-04
Variant appearance in text: LRRK2: 4911A>G; Lys1637=
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: LRRK2: K1637K; rs11176013
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Brain : A Journal Of Neurology
Tan, Manuela M X MMX; Malek, Naveed N; Lawton, Michael A MA; Hubbard, Leon L; Pittman, Alan M AM; Joseph, Theresita T; Hehir, Jason J; Swallow, Diane M A DMA; Grosset, Katherine A KA; Marrinan, Sarah L SL; Bajaj, Nin N; Barker, Roger A RA; Burn, David J DJ; Bresner, Catherine C; Foltynie, Thomas T; Hardy, John J; Wood, Nicholas N; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Williams, Nigel M NM; Morris, Huw R HR
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.
Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans.
Genetics And Molecular Biology
Viscardi, Lucas Henriques LH; Paixão-Côrtes, Vanessa Rodrigues VR; Comas, David D; Salzano, Francisco Mauro FM; Rovaris, Diego D; Bau, Claiton Dotto CD; Amorim, Carlos Eduardo G CEG; Bortolini, Maria Cátira MC
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04
Variant appearance in text: LRRK2: 4911A>G; Lys1637=; rs11176013
Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.
Movement Disorders : Official Journal Of The Movement Disorder Society
Sanchez-Contreras, Monica M; Heckman, Michael G MG; Tacik, Pawel P; Diehl, Nancy N; Brown, Patricia H PH; Soto-Ortolaza, Alexandra I AI; Christopher, Elizabeth A EA; Walton, Ronald L RL; Ross, Owen A OA; Golbe, Lawrence I LI; Graff-Radford, Neill N; Wszolek, Zbigniew K ZK; Dickson, Dennis W DW; Rademakers, Rosa R
Publication Date: 2017-01
Variant appearance in text: LRRK2: K1637K; rs11176013
Heckman, Michael G MG; Soto-Ortolaza, Alexandra I AI; Contreras, Monica Y Sanchez MYS; Murray, Melissa E ME; Pedraza, Otto O; Diehl, Nancy N NN; Walton, Ronald R; Labbé, Catherine C; Lorenzo-Betancor, Oswaldo O; Uitti, Ryan J RJ; van Gerpen, Jay J; Ertekin-Taner, Nilüfer N; Smith, Glenn E GE; Kantarci, Kejal K; Savica, Rodolfo R; Jones, David T DT; Graff-Radford, Jonathan J; Knopman, David S DS; Lowe, Val J VJ; Jack, Clifford R CR; Petersen, Ronald C RC; Parisi, Joseph E JE; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; Graff-Radford, Neill R NR; Ferman, Tanis J TJ; Dickson, Dennis W DW; Boeve, Bradley F BF; Ross, Owen A OA
Publication Date: 2016-10
Variant appearance in text: LRRK2: K1637K; rs11176013
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: LRRK2: K1637K; rs11176013
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: LRRK2: K1637K; rs11176013
LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population.
Parkinsonism & Related Disorders
Cilia, Roberto R; Siri, Chiara C; Rusconi, Damiana D; Allegra, Roberta R; Ghiglietti, Andrea A; Sacilotto, Giorgio G; Zini, Michela M; Zecchinelli, Anna L AL; Asselta, Rosanna R; Duga, Stefano S; Paganoni, Anna M AM; Pezzoli, Gianni G; Seia, Manuela M; Goldwurm, Stefano S
Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.
Movement Disorders : Official Journal Of The Movement Disorder Society
Mata, Ignacio F IF; Checkoway, Harvey H; Hutter, Carolyn M CM; Samii, Ali A; Roberts, John W JW; Kim, Hojoong M HM; Agarwal, Pinky P; Alvarez, Victoria V; Ribacoba, Renee R; Pastor, Pau P; Lorenzo-Betancor, Oswaldo O; Infante, Jon J; Sierra, María M; Gómez-Garre, Pilar P; Mir, Pablo P; Ritz, Beate B; Rhodes, Shannon L SL; Colcher, Amy A; Van Deerlin, Vivianna V; Chung, Kathryn A KA; Quinn, Joseph F JF; Yearout, Dora D; Martinez, Erica E; Farin, Federico M FM; Wan, Jia Y JY; Edwards, Karen L KL; Zabetian, Cyrus P CP
Publication Date: 2012-12
Variant appearance in text: LRRK2: K1637K; rs11176013
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Human Mutation
Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE
Publication Date: 2012-07
Variant appearance in text: LRRK2: 4911A>G; Lys1637Lys; rs11176013
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
The Lancet. Neurology
Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,
Publication Date: 2011-10
Variant appearance in text: LRRK2: K1637K; rs11176013
LRRK2 variation and Parkinson's disease in African Americans.
Movement Disorders : Official Journal Of The Movement Disorder Society
Ross, Owen A OA; Wilhoite, Greggory J GJ; Bacon, Justin A JA; Soto-Ortolaza, Alexandra A; Kachergus, Jennifer J; Cobb, Stephanie A SA; Puschmann, Andreas A; Vilariño-Güell, Carles C; Farrer, Matthew J MJ; Graff-Radford, Neill N; Meschia, James F JF; Wszolek, Zbigniew K ZK
Publication Date: 2010-09-15
Variant appearance in text: LRRK2: K1637K; rs11176013
LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.
Movement Disorders : Official Journal Of The Movement Disorder Society
Zabetian, Cyrus P CP; Yamamoto, Mitsutoshi M; Lopez, Alexis N AN; Ujike, Hiroshi H; Mata, Ignacio F IF; Izumi, Yuishin Y; Kaji, Ryuji R; Maruyama, Hirofumi H; Morino, Hiroyuki H; Oda, Masaya M; Hutter, Carolyn M CM; Edwards, Karen L KL; Schellenberg, Gerard D GD; Tsuang, Debby W DW; Yearout, Dora D; Larson, Eric B EB; Kawakami, Hideshi H
LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.
American Journal Of Human Genetics
Zabetian, Cyrus P CP; Hutter, Carolyn M CM; Yearout, Dora D; Lopez, Alexis N AN; Factor, Stewart A SA; Griffith, Alida A; Leis, Berta C BC; Bird, Thomas D TD; Nutt, John G JG; Higgins, Donald S DS; Roberts, John W JW; Kay, Denise M DM; Edwards, Karen L KL; Samii, Ali A; Payami, Haydeh H
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
American Journal Of Human Genetics
Kachergus, Jennifer J; Mata, Ignacio F IF; Hulihan, Mary M; Taylor, Julie P JP; Lincoln, Sarah S; Aasly, Jan J; Gibson, J Mark JM; Ross, Owen A OA; Lynch, Timothy T; Wiley, Joseph J; Payami, Haydeh H; Nutt, John J; Maraganore, Demetrius M DM; Czyzewski, Krzysztof K; Styczynska, Maria M; Wszolek, Zbigniew K ZK; Farrer, Matthew J MJ; Toft, Mathias M