Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21
Variant appearance in text: PLIN1: 1113T>C; rs2304795
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
Editorial: Precision Physical Activity and Exercise Prescriptions for Disease Prevention: The Effect of Interindividual Variability Under Different Training Approaches, Volume II.
Effects of Four Lipid Metabolism-Related Polymorphisms on Body Composition Improvements After 12 Weeks of High-Intensity Interval Training and Dietary Energy Restriction in Overweight/Obese Adult Women: A Pilot Study.
Frontiers In Physiology
Andrade-Mayorga, Omar O; Díaz, Erik E; Salazar, Luis A LA
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: PLIN1: 1113T>C; rs2304795
AA genotype of PLIN1 13041A>G as an unfavourable predictive factor of malnutrition associated with fat mass loss in locally advanced head and neck cancer male patients treated with radiotherapy.
Supportive Care In Cancer : Official Journal Of The Multinational Association Of Supportive Care In Cancer
Powrózek, Tomasz T; Brzozowska, Anna A; Mazurek, Marcin M; Prendecka, Monika M; Homa-Mlak, Iwona I; Mlak, Radosław R; Małecka-Massalska, Teresa T
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: PLIN1: 1113T>C; Pro371=
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: PLIN1: P371P; rs2304795
Precision medicine in adult and pediatric obesity: a clinical perspective.
Therapeutic Advances In Endocrinology And Metabolism
Bomberg, Eric M EM; Ryder, Justin R JR; Brundage, Richard C RC; Straka, Robert J RJ; Fox, Claudia K CK; Gross, Amy C AC; Oberle, Megan M MM; Bramante, Carolyn T CT; Sibley, Shalamar D SD; Kelly, Aaron S AS
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.
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: PLIN1: P371P; rs2304795
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: PLIN1: P371P; rs2304795
A Polymorphism in a gene encoding Perilipin 4 is associated with height but not with bone measures in individuals from the Framingham Osteoporosis Study.
Calcified Tissue International
Cusano, Natalie E NE; Kiel, Douglas P DP; Demissie, Serkalem S; Karasik, David D; Adrienne Cupples, L L; Corella, Dolores D; Gao, Qiong Q; Richardson, Kris K; Yiannakouris, Nikos N; Ordovas, Jose M JM
Publication Date: 2012-02
Variant appearance in text: PLIN1: Pro371Pro; rs2304795
Endurance exercise training effects on body fatness, VO2max, HDL-C subfractions, and glucose tolerance are influenced by a PLIN haplotype in older Caucasians.
Journal Of Applied Physiology (Bethesda, Md. : 1985)
Jenkins, Nathan T NT; McKenzie, Jennifer A JA; Damcott, Coleen M CM; Witkowski, Sarah S; Hagberg, James M JM
Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome.
Diabetes Research And Clinical Practice
Kawai, Toshihide T; Ng, Maggie C Y MC; Hayes, M Geoffrey MG; Yoshiuchi, Issei I; Tsuchiya, Takafumi T; Robertson, Heather H; Cox, Nancy J NJ; Polonsky, Kenneth S KS; Bell, Graeme I GI; Ehrmann, David A DA
Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites.
Bmc Genetics
Mattei, Josiemer J; Parnell, Laurence D LD; Lai, Chao-Qiang CQ; Garcia-Bailo, Bibiana B; Adiconis, Xian X; Shen, Jian J; Arnett, Donna D; Demissie, Serkalem S; Tucker, Katherine L KL; Ordovas, Jose M JM
Publication Date: 2009-08-14
Variant appearance in text: PLIN: P371P; rs2304795
Effects of perilipin (PLIN) gene variation on metabolic syndrome risk and weight loss in obese children and adolescents.
The Journal Of Clinical Endocrinology And Metabolism
Deram, Sophie S; Nicolau, Christiane Y CY; Perez-Martinez, Pablo P; Guazzelli, Isabel I; Halpern, Alfredo A; Wajchenberg, Bernardo L BL; Ordovas, Jose M JM; Villares, Sandra M SM