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: G6PC2: 655G>C; Val219Leu
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: G6PC2: 655G>C; V219L; rs492594
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
Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program.
Communications Biology
DiCorpo, Daniel D; Gaynor, Sheila M SM; Russell, Emily M EM; Westerman, Kenneth E KE; Raffield, Laura M LM; Majarian, Timothy D TD; Wu, Peitao P; Sarnowski, Chloé C; Highland, Heather M HM; Jackson, Anne A; Hasbani, Natalie R NR; de Vries, Paul S PS; Brody, Jennifer A JA; Hidalgo, Bertha B; Guo, Xiuqing X; Perry, James A JA; O'Connell, Jeffrey R JR; Lent, Samantha S; Montasser, May E ME; Cade, Brian E BE; Jain, Deepti D; Wang, Heming H; D'Oliveira Albanus, Ricardo R; Varshney, Arushi A; Yanek, Lisa R LR; Lange, Leslie L; Palmer, Nicholette D ND; Almeida, Marcio M; Peralta, Juan M JM; Aslibekyan, Stella S; Baldridge, Abigail S AS; Bertoni, Alain G AG; Bielak, Lawrence F LF; Chen, Chung-Shiuan CS; Chen, Yii-Der Ida YI; Choi, Won Jung WJ; Goodarzi, Mark O MO; Floyd, James S JS; Irvin, Marguerite R MR; Kalyani, Rita R RR; Kelly, Tanika N TN; Lee, Seonwook S; Liu, Ching-Ti CT; Loesch, Douglas D; Manson, JoAnn E JE; Minster, Ryan L RL; Naseri, Take T; Pankow, James S JS; Rasmussen-Torvik, Laura J LJ; Reiner, Alexander P AP; Reupena, Muagututi'a Sefuiva MS; Selvin, Elizabeth E; Smith, Jennifer A JA; Weeks, Daniel E DE; Xu, Huichun H; Yao, Jie J; Zhao, Wei W; Parker, Stephen S; Alonso, Alvaro A; Arnett, Donna K DK; Blangero, John J; Boerwinkle, Eric E; Correa, Adolfo A; Cupples, L Adrienne LA; Curran, Joanne E JE; Duggirala, Ravindranath R; He, Jiang J; Heckbert, Susan R SR; Kardia, Sharon L R SLR; Kim, Ryan W RW; Kooperberg, Charles C; Liu, Simin S; Mathias, Rasika A RA; McGarvey, Stephen T ST; Mitchell, Braxton D BD; Morrison, Alanna C AC; Peyser, Patricia A PA; Psaty, Bruce M BM; Redline, Susan S; Shuldiner, Alan R AR; Taylor, Kent D KD; Vasan, Ramachandran S RS; Viaud-Martinez, Karine A KA; Florez, Jose C JC; Wilson, James G JG; Sladek, Robert R; Rich, Stephen S SS; Rotter, Jerome I JI; Lin, Xihong X; Dupuis, Josée J; Meigs, James B JB; Wessel, Jennifer J; Manning, Alisa K AK
Publication Date: 2022-07-28
Variant appearance in text: G6PC2: Val219Leu; rs492594
Non-synonymous single nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity and fasting blood glucose.
The Journal Of Biological Chemistry
Overway, Emily M EM; Bosma, Karin J KJ; Claxton, Derek P DP; Oeser, James K JK; Singh, Kritika K; Breidenbach, Lindsay B LB; Mchaourab, Hassane S HS; Davis, Lea K LK; O'Brien, Richard M RM
Publication Date: 2021-12-23
Variant appearance in text: G6PC2: Val219Leu; rs492594
Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose.
The Journal Of Biological Chemistry
Overway, Emily M EM; Bosma, Karin J KJ; Claxton, Derek P DP; Oeser, James K JK; Singh, Kritika K; Breidenbach, Lindsay B LB; Mchaourab, Hassane S HS; Davis, Lea K LK; O'Brien, Richard M RM
Publication Date: 2022-02
Variant appearance in text: G6PC2: Val219Leu; rs492594
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: G6PC2: 655G>C; V219L; rs492594
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: G6PC2: 655G>C; V219L; rs492594
Genome-wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study.
Pediatric Obesity
Buchanan, Victoria L VL; Wang, Yujie Y; Blanco, Estela E; Graff, Mariaelisa M; Albala, Cecilia C; Burrows, Raquel R; Santos, José L JL; Angel, Bárbara B; Lozoff, Betsy B; Voruganti, Venkata Saroja VS; Guo, Xiuqing X; Taylor, Kent D KD; Chen, Yii-Der Ida YI; Yao, Jie J; Tan, Jingyi J; Downie, Carolina C; Highland, Heather M HM; Justice, Anne E AE; Gahagan, Sheila S; North, Kari E KE
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: G6PC2: 655G>C; V219L; rs492594
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: G6PC2: V219L; rs492594
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: G6PC2: V219L; rs492594
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: G6PC2: 655G>C; Val219Leu; rs492594
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: G6PC2: V219L; rs492594
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
Publication Date: 2018-04
Variant appearance in text: G6PC2: V219L; rs492594
Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.
Upsala Journal Of Medical Sciences
Kamble, Prasad G PG; Gustafsson, Stefan S; Pereira, Maria J MJ; Lundkvist, Per P; Cook, Naomi N; Lind, Lars L; Franks, Paul W PW; Fall, Tove T; Eriksson, Jan W JW; Ingelsson, Erik E
Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection.
Bmc Evolutionary Biology
Al-Daghri, Nasser M NM; Pontremoli, Chiara C; Cagliani, Rachele R; Forni, Diego D; Alokail, Majed S MS; Al-Attas, Omar S OS; Sabico, Shaun S; Riva, Stefania S; Clerici, Mario M; Sironi, Manuela M
Publication Date: 2017-02-07
Variant appearance in text: G6PC2: V219L; rs492594
Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.
Oncotarget
Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X
Publication Date: 2017-04-04
Variant appearance in text: G6PC2: V219L; rs492594
Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.
Plos One
Boortz, Kayla A KA; Syring, Kristen E KE; Pound, Lynley D LD; Wang, Yingda Y; Oeser, James K JK; O'Brien, Richard M RM
Publication Date: 2016
Variant appearance in text: G6PC2: Val219Leu; rs492594
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
General Framework for Meta-Analysis of Haplotype Association Tests.
Genetic Epidemiology
Wang, Shuai S; Zhao, Jing Hua JH; An, Ping P; Guo, Xiuqing X; Jensen, Richard A RA; Marten, Jonathan J; Huffman, Jennifer E JE; Meidtner, Karina K; Boeing, Heiner H; Campbell, Archie A; Rice, Kenneth M KM; Scott, Robert A RA; Yao, Jie J; Schulze, Matthias B MB; Wareham, Nicholas J NJ; Borecki, Ingrid B IB; Province, Michael A MA; Rotter, Jerome I JI; Hayward, Caroline C; Goodarzi, Mark O MO; Meigs, James B JB; Dupuis, Josée J
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: G6PC2: V219L; rs492594