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
Elucidation of the genetic causes of bicuspid aortic valve disease.
Cardiovascular Research
Gehlen, Jan J; Stundl, Anja A; Debiec, Radoslaw R; Fontana, Federica F; Krane, Markus M; Sharipova, Dinara D; Nelson, Christopher P CP; Al-Kassou, Baravan B; Giel, Ann Sophie AS; Sinning, Jan Malte JM; Bruenger, Christopher Mh CM; Zelck, Carolin F CF; Koebbe, Laura L LL; Braund, Peter S PS; Webb, Thomas R TR; Hetherington, Simon S; Ensminger, Stephan S; Fujita, Buntaro B; Mohamed, Salah A SA; Shrestha, Malakh M; Krueger, Heike H; Siepe, Matthias M; Kari, Fabian Alexander FA; Nordbeck, Peter P; Buravezky, Larissa L; Kelm, Malte M; Veulemans, Verena V; Adam, Matti M; Baldus, Stephan S; Laugwitz, Karl Ludwig KL; Haas, Yannick Y; Karck, Matthias M; Mehlhorn, Uwe U; Conzelmann, Lars Oliver LO; Breitenbach, Ingo I; Lebherz, Corinna C; Urbanski, Paul P; Kim, Won Keun WK; Kandels, Joscha J; Ellinghaus, David D; Nowak-Goettl, Ulrike U; Hoffmann, Per P; Wirth, Felix F; Doppler, Stefanie S; Lahm, Harald H; Dreßen, Martina M; von Scheidt, Moritz M; Knoll, Katharina K; Kessler, Thorsten T; Hengstenberg, Christian C; Schunkert, Heribert H; Nickenig, Georg G; Nöthen, Markus M MM; Bolger, Aidan P AP; Abdelilah-Seyfried, Salim S; Samani, Nilesh J NJ; Erdmann, Jeanette J; Trenkwalder, Teresa T; Schumacher, Johannes J
Publication Date: 2022-06-21
Variant appearance in text: MUC4: Ala4821Ser; rs2246901
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: MUC4: A4821S; rs2246901
Single nucleotide polymorphisms within MUC4 are associated with colorectal cancer survival.
Plos One
Lu, Shun S; Catalano, Calogerina C; Huhn, Stefanie S; Pardini, Barbara B; Partu, Linda L; Vymetalkova, Veronika V; Vodickova, Ludmila L; Levy, Miroslav M; Buchler, Thomas T; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
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
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: MUC4: 14461G>T; Ala4821Ser; rs2246901
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: MUC4: A4821S; rs2246901
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.
Nature Communications
Corvol, Harriet H; Blackman, Scott M SM; Boëlle, Pierre-Yves PY; Gallins, Paul J PJ; Pace, Rhonda G RG; Stonebraker, Jaclyn R JR; Accurso, Frank J FJ; Clement, Annick A; Collaco, Joseph M JM; Dang, Hong H; Dang, Anthony T AT; Franca, Arianna A; Gong, Jiafen J; Guillot, Loic L; Keenan, Katherine K; Li, Weili W; Lin, Fan F; Patrone, Michael V MV; Raraigh, Karen S KS; Sun, Lei L; Zhou, Yi-Hui YH; O'Neal, Wanda K WK; Sontag, Marci K MK; Levy, Hara H; Durie, Peter R PR; Rommens, Johanna M JM; Drumm, Mitchell L ML; Wright, Fred A FA; Strug, Lisa J LJ; Cutting, Garry R GR; Knowles, Michael R MR
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: MUC4: A4821S; rs2246901