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Clinical and biochemical characterization of four patients with mutations in ECHS1.
Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Ferdinandusse S, et al. Among authors: gowan k. Orphanet J Rare Dis. 2015 Jun 18;10:79. doi: 10.1186/s13023-015-0290-1. Orphanet J Rare Dis. 2015. PMID: 26081110 Free PMC article.
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Among authors: gowan k. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Friederich MW, et al. Among authors: gowan k. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w. Nat Commun. 2018. PMID: 30283131 Free PMC article.
Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.
Begay RL, Graw SL, Sinagra G, Asimaki A, Rowland TJ, Slavov DB, Gowan K, Jones KL, Brun F, Merlo M, Miani D, Sweet M, Devaraj K, Wartchow EP, Gigli M, Puggia I, Salcedo EE, Garrity DM, Ambardekar AV, Buttrick P, Reece TB, Bristow MR, Saffitz JE, Mestroni L, Taylor MRG. Begay RL, et al. Among authors: gowan k. JACC Clin Electrophysiol. 2018 Apr;4(4):504-514. doi: 10.1016/j.jacep.2017.12.003. Epub 2018 Feb 2. JACC Clin Electrophysiol. 2018. PMID: 30067491 Free PMC article.
p16 Loss and E2F/cell cycle deregulation in infant posterior fossa ependymoma.
Lummus SC, Donson AM, Gowan K, Jones KL, Vibhakar R, Foreman NK, Kleinschmidt-DeMasters BK. Lummus SC, et al. Among authors: gowan k. Pediatr Blood Cancer. 2017 Dec;64(12):10.1002/pbc.26656. doi: 10.1002/pbc.26656. Epub 2017 May 26. Pediatr Blood Cancer. 2017. PMID: 28548702 Free PMC article.
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Noetzli L, et al. Among authors: gowan k. Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807284 Free PMC article.
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, Sweet ME, Slavov DB, Stafford N, Zeller MJ, Alnefaie R, Rowland TJ, Brun F, Jones KL, Gowan K, Mestroni L, Garrity DM, Taylor MR. Begay RL, et al. Among authors: gowan k. JACC Basic Transl Sci. 2016 Aug;1(5):344-359. doi: 10.1016/j.jacbts.2016.05.004. Epub 2016 Jul 27. JACC Basic Transl Sci. 2016. PMID: 28008423 Free PMC article.
Common variants in FOXP1 are associated with generalized vitiligo.
Jin Y, Birlea SA, Fain PR, Mailloux CM, Riccardi SL, Gowan K, Holland PJ, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Jin Y, et al. Among authors: gowan k. Nat Genet. 2010 Jul;42(7):576-8. doi: 10.1038/ng.602. Epub 2010 Jun 6. Nat Genet. 2010. PMID: 20526340 Free PMC article.
44 results