Destabilization of mutated human PUS3 protein causes intellectual disability.
Human Mutation
Lin, Ting-Yu TY; Smigiel, Robert R; Kuzniewska, Bozena B; Chmielewska, Joanna J JJ; Kosińska, Joanna J; Biela, Mateusz M; Biela, Anna A; Kościelniak, Anna A; Dobosz, Dominika D; Laczmanska, Izabela I; Chramiec-Głąbik, Andrzej A; Jeżowski, Jakub J; Nowak, Jakub J; Gos, Monika M; Rzonca-Niewczas, Sylwia S; Dziembowska, Magdalena M; Ploski, Rafał R; Glatt, Sebastian S
Publication Date: 2022-09-20
Variant appearance in text: APOB: 12382G>A; Val4128Met
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
Publication Date: 2022-11
Variant appearance in text: APOB: V4128M; rs1801703
Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: APOB: 12382G>A; Val4128Met
Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey.
Frontiers In Cardiovascular Medicine
Limonova, Alena S AS; Ershova, Alexandra I AI; Meshkov, Alexey N AN; Kiseleva, Anna V AV; Divashuk, Mikhail G MG; Kurkina, Marina V MV; Drapkina, Oxana M OM
Publication Date: 2021
Variant appearance in text: APOB: 12382G>A; Val4128Met; rs1801703
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: APOB: 12382G>A; Val4128Met
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: APOB: V4128M; rs1801703
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: APOB: 12382G>A; Val4128Met; rs1801703
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: APOB: 12382G>A; Val4128Met
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: APOB: V4128M; rs1801703
A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.
Oncotarget
Van Allen, Eliezer M EM; Robinson, Dan D; Morrissey, Colm C; Pritchard, Colin C; Imamovic, Alma A; Carter, Scott S; Rosenberg, Mara M; McKenna, Aaron A; Wu, Yi-Mi YM; Cao, Xuhong X; Chinnaiyan, Arul A; Garraway, Levi L; Nelson, Peter S PS
Publication Date: 2016-08-16
Variant appearance in text: APOB: V4128M; rs1801703
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
Cold Spring Harbor Molecular Case Studies
Yu, Hung-Chun HC; Coughlin, Curtis R CR; Geiger, Elizabeth A EA; Salvador, Blake J BJ; Elias, Ellen R ER; Cavanaugh, Jean L JL; Chatfield, Kathryn C KC; Miyamoto, Shelley D SD; Shaikh, Tamim H TH
Publication Date: 2016-05
Variant appearance in text: APOB: 12382G>A; Val4128Met
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: APOB: V4128M; rs1801703
Exome sequencing of three cases of familial exceptional longevity.
Aging Cell
Cash, Timothy P TP; Pita, Guillermo G; Domínguez, Orlando O; Alonso, Maria R MR; Moreno, Leticia T LT; Borrás, Consuelo C; Rodríguez-Mañas, Leocadio L; Santiago, Catalina C; Garatachea, Nuria N; Lucia, Alejandro A; Avellana, Juan A JA; Viña, Jose J; González-Neira, Anna A; Serrano, Manuel M
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: APOB: V4128M; rs1801703
Testing for an unusual distribution of rare variants.
Plos Genetics
Neale, Benjamin M BM; Rivas, Manuel A MA; Voight, Benjamin F BF; Altshuler, David D; Devlin, Bernie B; Orho-Melander, Marju M; Kathiresan, Sekar S; Purcell, Shaun M SM; Roeder, Kathryn K; Daly, Mark J MJ