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
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
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Frontiers In Allergy
Drouet, Christian C; López-Lera, Alberto A; Ghannam, Arije A; López-Trascasa, Margarita M; Cichon, Sven S; Ponard, Denise D; Parsopoulou, Faidra F; Grombirikova, Hana H; Freiberger, Tomáš T; Rijavec, Matija M; Veronez, Camila L CL; Pesquero, João Bosco JB; Germenis, Anastasios E AE
Publication Date: 2022
Variant appearance in text: KLKB1: 428G>A; Ser143Asn
Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).
Frontiers In Allergy
Parsopoulou, Faidra F; Loules, Gedeon G; Zamanakou, Maria M; Csuka, Dorottya D; Szilagyi, Agnes A; Kompoti, Maria M; Porebski, Grzegorz G; Psarros, Fotis F; Magerl, Markus M; Valerieva, Anna A; Staevska, Maria M; Obtulowicz, Krystyna K; Maurer, Marcus M; Speletas, Matthaios M; Farkas, Henriette H; Germenis, Anastasios E AE
Publication Date: 2022
Variant appearance in text: KLKB1: 428G>A; Ser143Asn; rs3733402
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: KLKB1: S143N; rs3733402
Kallikrein augments the anticoagulant function of the protein C system in thrombin generation.
Journal Of Thrombosis And Haemostasis : Jth
Wan, Jun J; Vadaq, Nadira N; Konings, Joke J; Jaeger, Martin M; Kumar, Vinod V; de Laat, Bas B; Joosten, Leo L; Netea, Mihai G MG; van der Ven, Andre J AJ; de Groot, Philip G PG; de Mast, Quirijn Q; Roest, Mark M
Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.
Embo Molecular Medicine
Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R
Publication Date: 2021-08-09
Variant appearance in text: KLKB1: 428G>A; Ser143Asn; rs3733402
Genome-wide association study of cardiac troponin I in the general population.
Human Molecular Genetics
Moksnes, Marta R MR; Røsjø, Helge H; Richmond, Anne A; Lyngbakken, Magnus N MN; Graham, Sarah E SE; Hansen, Ailin Falkmo AF; Wolford, Brooke N BN; Gagliano Taliun, Sarah A SA; LeFaive, Jonathon J; Rasheed, Humaira H; Thomas, Laurent F LF; Zhou, Wei W; Aung, Nay N; Surakka, Ida I; Douville, Nicholas J NJ; Campbell, Archie A; Porteous, David J DJ; Petersen, Steffen E SE; Munroe, Patricia B PB; Welsh, Paul P; Sattar, Naveed N; Smith, George Davey GD; Fritsche, Lars G LG; Nielsen, Jonas B JB; Åsvold, Bjørn Olav BO; Hveem, Kristian K; Hayward, Caroline C; Willer, Cristen J CJ; Brumpton, Ben M BM; Omland, Torbjørn T
Publication Date: 2021-10-13
Variant appearance in text: KLKB1: Ser143Asn; rs3733402
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: KLKB1: 428G>A; S143N; rs3733402
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
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: KLKB1: 428G>A; S143N; rs3733402
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12
Variant appearance in text: KLKB1: 428G>A; S143N; rs3733402
Reference exome data for a Northern Brazilian population.
Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
Publication Date: 2020-10-21
Variant appearance in text: KLKB1: 428G>A; Ser143Asn; rs3733402
Longitudinal Plasma Kallikrein Levels and Their Association With the Risk of Cardiovascular Disease Outcomes in Type 1 Diabetes in DCCT/EDIC.
Diabetes
Jaffa, Miran A MA; Bebu, Ionut I; Luttrell, Deirdre D; Braffett, Barbara H BH; Lachin, John M JM; Hunt, Kelly K; Lopes-Virella, Maria M; Luttrell, Louis L; Lyons, Timothy J TJ; Jaffa, Ayad A AA; ,
Preclinical safety studies of human embryonic stem cell-derived retinal pigment epithelial cells for the treatment of age-related macular degeneration.
Stem Cells Translational Medicine
Petrus-Reurer, Sandra S; Kumar, Pankaj P; Padrell Sánchez, Sara S; Aronsson, Monica M; André, Helder H; Bartuma, Hammurabi H; Plaza Reyes, Alvaro A; Nandrot, Emeline F EF; Kvanta, Anders A; Lanner, Fredrik F
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
Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance.
Scientific Reports
Al-Khelaifi, Fatima F; Diboun, Ilhame I; Donati, Francesco F; Botrè, Francesco F; Abraham, David D; Hingorani, Aroon A; Albagha, Omar O; Georgakopoulos, Costas C; Suhre, Karsten K; Yousri, Noha A NA; Elrayess, Mohamed A MA
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: KLKB1: S143N; rs3733402
Cardiac Troponin T and Troponin I in the General Population.
Circulation
Welsh, Paul P; Preiss, David D; Hayward, Caroline C; Shah, Anoop S V ASV; McAllister, David D; Briggs, Andrew A; Boachie, Charles C; McConnachie, Alex A; Padmanabhan, Sandosh S; Welsh, Claire C; Woodward, Mark M; Campbell, Archie A; Porteous, David D; Mills, Nicholas L NL; Sattar, Naveed N
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: KLKB1: S143N; rs3733402
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: KLKB1: 428G>A; Ser143Asn; rs3733402
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
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: KLKB1: S143N; rs3733402
Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.
Journal Of Thrombosis And Haemostasis : Jth
de Haan, H G HG; van Hylckama Vlieg, A A; Lotta, L A LA; Gorski, M M MM; Bucciarelli, P P; Martinelli, I I; Baglin, T P TP; Peyvandi, F F; Rosendaal, F R FR; ,
Publication Date: 2018-12
Variant appearance in text: KLKB1: Ser143Asn; rs3733402
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Scientific Reports
Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM
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.