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: MYBPHL: 805G>A; Asp269Asn
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
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: MYBPHL: 805G>A; D269N; rs629001
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: MYBPHL: 805G>A; D269N; rs629001
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: MYBPHL: D269N; rs629001
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: MYBPHL: D269N; rs629001
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: MYBPHL: 805G>A; Asp269Asn; rs629001
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: MYBPHL: D269N; rs629001
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
Nature Communications
van Setten, Jessica J; Brody, Jennifer A JA; Jamshidi, Yalda Y; Swenson, Brenton R BR; Butler, Anne M AM; Campbell, Harry H; Del Greco, Fabiola M FM; Evans, Daniel S DS; Gibson, Quince Q; Gudbjartsson, Daniel F DF; Kerr, Kathleen F KF; Krijthe, Bouwe P BP; Lyytikäinen, Leo-Pekka LP; Müller, Christian C; Müller-Nurasyid, Martina M; Nolte, Ilja M IM; Padmanabhan, Sandosh S; Ritchie, Marylyn D MD; Robino, Antonietta A; Smith, Albert V AV; Steri, Maristella M; Tanaka, Toshiko T; Teumer, Alexander A; Trompet, Stella S; Ulivi, Sheila S; Verweij, Niek N; Yin, Xiaoyan X; Arnar, David O DO; Asselbergs, Folkert W FW; Bader, Joel S JS; Barnard, John J; Bis, Josh J; Blankenberg, Stefan S; Boerwinkle, Eric E; Bradford, Yuki Y; Buckley, Brendan M BM; Chung, Mina K MK; Crawford, Dana D; den Hoed, Marcel M; Denny, Josh C JC; Dominiczak, Anna F AF; Ehret, Georg B GB; Eijgelsheim, Mark M; Ellinor, Patrick T PT; Felix, Stephan B SB; Franco, Oscar H OH; Franke, Lude L; Harris, Tamara B TB; Holm, Hilma H; Ilaria, Gandin G; Iorio, Annamaria A; Kähönen, Mika M; Kolcic, Ivana I; Kors, Jan A JA; Lakatta, Edward G EG; Launer, Lenore J LJ; Lin, Honghuang H; Lin, Henry J HJ; Loos, Ruth J F RJF; Lubitz, Steven A SA; Macfarlane, Peter W PW; Magnani, Jared W JW; Leach, Irene Mateo IM; Meitinger, Thomas T; Mitchell, Braxton D BD; Munzel, Thomas T; Papanicolaou, George J GJ; Peters, Annette A; Pfeufer, Arne A; Pramstaller, Peter P PP; Raitakari, Olli T OT; Rotter, Jerome I JI; Rudan, Igor I; Samani, Nilesh J NJ; Schlessinger, David D; Silva Aldana, Claudia T CT; Sinner, Moritz F MF; Smith, Jonathan D JD; Snieder, Harold H; Soliman, Elsayed Z EZ; Spector, Timothy D TD; Stott, David J DJ; Strauch, Konstantin K; Tarasov, Kirill V KV; Thorsteinsdottir, Unnur U; Uitterlinden, Andre G AG; Van Wagoner, David R DR; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Jan Westra, Harm H; Wild, Philipp S PS; Zeller, Tanja T; Alonso, Alvaro A; Avery, Christy L CL; Bandinelli, Stefania S; Benjamin, Emelia J EJ; Cucca, Francesco F; Dörr, Marcus M; Ferrucci, Luigi L; Gasparini, Paolo P; Gudnason, Vilmundur V; Hayward, Caroline C; Heckbert, Susan R SR; Hicks, Andrew A AA; Jukema, J Wouter JW; Kääb, Stefan S; Lehtimäki, Terho T; Liu, Yongmei Y; Munroe, Patricia B PB; Parsa, Afshin A; Polasek, Ozren O; Psaty, Bruce M BM; Roden, Dan M DM; Schnabel, Renate B RB; Sinagra, Gianfranco G; Stefansson, Kari K; Stricker, Bruno H BH; van der Harst, Pim P; van Duijn, Cornelia M CM; Wilson, James F JF; Gharib, Sina A SA; de Bakker, Paul I W PIW; Isaacs, Aaron A; Arking, Dan E DE; Sotoodehnia, Nona N
Publication Date: 2018-07-25
Variant appearance in text: MYBPHL: D269N; rs629001
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: MYBPHL: D269N; rs629001
Miller, Clint L CL; Pjanic, Milos M; Wang, Ting T; Nguyen, Trieu T; Cohain, Ariella A; Lee, Jonathan D JD; Perisic, Ljubica L; Hedin, Ulf U; Kundu, Ramendra K RK; Majmudar, Deshna D; Kim, Juyong B JB; Wang, Oliver O; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Assimes, Themistocles L TL; Montgomery, Stephen B SB; Schadt, Eric E EE; Björkegren, Johan L M JLM; Quertermous, Thomas T
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: MYBPHL: D269N; rs629001
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: MYBPHL: D269N; rs629001