Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Hepatology Communications
Squires, James E JE; Miethke, Alexander G AG; Valencia, C Alexander CA; Hawthorne, Kieran K; Henn, Lisa L; Van Hove, Johan L K JLK; Squires, Robert H RH; Bove, Kevin K; Horslen, Simon S; Kohli, Rohit R; Molleston, Jean P JP; Romero, Rene R; Alonso, Estella M EM; Bezerra, Jorge A JA; Guthery, Stephen L SL; Hsu, Evelyn E; Karpen, Saul J SJ; Loomes, Kathleen M KM; Ng, Vicky L VL; Rosenthal, Philip P; Mysore, Krupa K; Wang, Kasper S KS; Friederich, Marisa W MW; Magee, John C JC; Sokol, Ronald J RJ; ,
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: MTFMT: 626C>T; Ser209Leu; rs201431517
Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome.
Frontiers In Cell And Developmental Biology
Uittenbogaard, Martine M; Sen, Kuntal K; Whitehead, Matthew M; Brantner, Christine A CA; Wang, Yue Y; Wong, Lee-Jun LJ; Gropman, Andrea A; Chiaramello, Anne A
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Bmj (Clinical Research Ed.)
Schon, Katherine R KR; Horvath, Rita R; Wei, Wei W; Calabrese, Claudia C; Tucci, Arianna A; Ibañez, Kristina K; Ratnaike, Thiloka T; Pitceathly, Robert D S RDS; Bugiardini, Enrico E; Quinlivan, Rosaline R; Hanna, Michael G MG; Clement, Emma E; Ashton, Emma E; Sayer, John A JA; Brennan, Paul P; Josifova, Dragana D; Izatt, Louise L; Fratter, Carl C; Nesbitt, Victoria V; Barrett, Timothy T; McMullen, Dominic J DJ; Smith, Audrey A; Deshpande, Charulata C; Smithson, Sarah F SF; Festenstein, Richard R; Canham, Natalie N; Caulfield, Mark M; Houlden, Henry H; Rahman, Shamima S; Chinnery, Patrick F PF; ,
Publication Date: 2021-11-03
Variant appearance in text: MTFMT: 626C>T; Ser209Leu
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Annals Of Neurology
Lim, Albert Z AZ; Ng, Yi Shiau YS; Blain, Alasdair A; Jiminez-Moreno, Cecilia C; Alston, Charlotte L CL; Nesbitt, Victoria V; Simmons, Louise L; Santra, Saikat S; Wassmer, Evangeline E; Blakely, Emma L EL; Turnbull, Doug M DM; Taylor, Robert W RW; Gorman, Gráinne S GS; McFarland, Robert R
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09
Variant appearance in text: MTFMT: 626C>T; Ser209Leu
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09
Variant appearance in text: MTFMT: 626C>T; Ser209Leu
Improved methods for RNAseq-based alternative splicing analysis.
Scientific Reports
Halperin, Rebecca F RF; Hegde, Apurva A; Lang, Jessica D JD; Raupach, Elizabeth A EA; , ; Legendre, Christophe C; Liang, Winnie S WS; LoRusso, Patricia M PM; Sekulic, Aleksandar A; Sosman, Jeffrey A JA; Trent, Jeffrey M JM; Rangasamy, Sampathkumar S; Pirrotte, Patrick P; Schork, Nicholas J NJ
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: MTFMT: 626C>T; Ser209Leu; rs201431517
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Annals Of Clinical And Translational Neurology
Hayhurst, Hannah H; de Coo, Irenaeus F M IFM; Piekutowska-Abramczuk, Dorota D; Alston, Charlotte L CL; Sharma, Sunil S; Thompson, Kyle K; Rius, Rocio R; He, Langping L; Hopton, Sila S; Ploski, Rafal R; Ciara, Elzbieta E; Lake, Nicole J NJ; Compton, Alison G AG; Delatycki, Martin B MB; Verrips, Aad A; Bonnen, Penelope E PE; Jones, Simon A SA; Morris, Andrew A AA; Shakespeare, David D; Christodoulou, John J; Wesol-Kucharska, Dorota D; Rokicki, Dariusz D; Smeets, Hubert J M HJM; Pronicka, Ewa E; Thorburn, David R DR; Gorman, Grainne S GS; McFarland, Robert R; Taylor, Robert W RW; Ng, Yi Shiau YS
Publication Date: 2019-03
Variant appearance in text: MTFMT: 626C>T; Ser209Leu
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: MTFMT: S209L; rs201431517
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Neurology. Genetics
Hemelsoet, Dimitri M DM; Vanlander, Arnaud V AV; Smet, Joél J; Vantroys, Elise E; Acou, Marjan M; Goethals, Ingeborg I; Sante, Tom T; Seneca, Sara S; Menten, Bjorn B; Van Coster, Rudy R
Publication Date: 2018-12
Variant appearance in text: MTFMT: 626C>T; Ser209Leu
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Frontiers In Genetics
Theunissen, Tom E J TEJ; Nguyen, Minh M; Kamps, Rick R; Hendrickx, Alexandra T AT; Sallevelt, Suzanne C E H SCEH; Gottschalk, Ralph W H RWH; Calis, Chantal M CM; Stassen, Alphons P M APM; de Koning, Bart B; Mulder-Den Hartog, Elvira N M ENM; Schoonderwoerd, Kees K; Fuchs, Sabine A SA; Hilhorst-Hofstee, Yvonne Y; de Visser, Marianne M; Vanoevelen, Jo J; Szklarczyk, Radek R; Gerards, Mike M; de Coo, Irenaeus F M IFM; Hellebrekers, Debby M E I DMEI; Smeets, Hubert J M HJM
Publication Date: 2018
Variant appearance in text: MTFMT: 626C>T; Ser209Leu
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Human Molecular Genetics
Hinttala, Reetta R; Sasarman, Florin F; Nishimura, Tamiko T; Antonicka, Hana H; Brunel-Guitton, Catherine C; Schwartzentruber, Jeremy J; Fahiminiya, Somayyeh S; Majewski, Jacek J; Faubert, Denis D; Ostergaard, Elsebet E; Smeitink, Jan A JA; Shoubridge, Eric A EA
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Jama
Taylor, Robert W RW; Pyle, Angela A; Griffin, Helen H; Blakely, Emma L EL; Duff, Jennifer J; He, Langping L; Smertenko, Tania T; Alston, Charlotte L CL; Neeve, Vivienne C VC; Best, Andrew A; Yarham, John W JW; Kirschner, Janbernd J; Schara, Ulrike U; Talim, Beril B; Topaloglu, Haluk H; Baric, Ivo I; Holinski-Feder, Elke E; Abicht, Angela A; Czermin, Birgit B; Kleinle, Stephanie S; Morris, Andrew A M AA; Vassallo, Grace G; Gorman, Grainne S GS; Ramesh, Venkateswaran V; Turnbull, Douglass M DM; Santibanez-Koref, Mauro M; McFarland, Robert R; Horvath, Rita R; Chinnery, Patrick F PF
Publication Date: 2014-07-02
Variant appearance in text: MTFMT: 626C>T; Ser209Leu
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Mitochondrion
Neeve, Vivienne C M VC; Pyle, Angela A; Boczonadi, Veronika V; Gomez-Duran, Aurora A; Griffin, Helen H; Santibanez-Koref, Mauro M; Gaiser, Ulrike U; Bauer, Peter P; Tzschach, Andreas A; Chinnery, Patrick F PF; Horvath, Rita R
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Cell Metabolism
Tucker, Elena J EJ; Hershman, Steven G SG; Köhrer, Caroline C; Belcher-Timme, Casey A CA; Patel, Jinal J; Goldberger, Olga A OA; Christodoulou, John J; Silberstein, Jonathon M JM; McKenzie, Matthew M; Ryan, Michael T MT; Compton, Alison G AG; Jaffe, Jacob D JD; Carr, Steven A SA; Calvo, Sarah E SE; RajBhandary, Uttam L UL; Thorburn, David R DR; Mootha, Vamsi K VK