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Select item 65582671.

Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency

Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloglu, Ivo Baric, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A.M. Morris, Grace Vassallo, Grainne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez-Koref, Robert McFarland, Rita Horvath, Patrick F. Chinnery

JAMA. Author manuscript; available in PMC 2019 Jun 11.

Published in final edited form as: JAMA. 2014 Jul 2; 312(1): 68–77. doi: 10.1001/jama.2014.7184

PMCID:: PMC6558267

Abstract Article PDF–703K

Select item 65051242.

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu

BMC Med Genet. 2019; 20: 77. Published online 2019 May 7. doi: 10.1186/s12881-019-0798-7

PMCID:: PMC6505124

Abstract Article PDF–902K

Select item 62476983.

A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li

BMC Med Genet. 2018; 19: 202. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0689-3

PMCID:: PMC6247698

Abstract Article PDF–1.7M

Select item 58734384.

Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, Bryn D. Webb, Robert McFarland, Zofia M.A. Chrzanowska‐Lightowlers, Langping He, Ewa Skorupa, Isabella Moroni, Anna Ardissone, Anna Walczak, Henna Tyynismaa, Pirjo Isohanni, Hanna Mandel, Holger Prokisch, Tobias Haack, Penelope E. Bonnen, Bertini Enrico, Ewa Pronicka, Daniele Ghezzi, Robert W. Taylor, Daria Diodato

Hum Mutat. 2018 Apr; 39(4): 563–578. Published online 2018 Feb 7. doi: 10.1002/humu.23398

PMCID:: PMC5873438

Abstract Article PDF–2.1M

Select item 56868205.

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F. Meyer, Stefan T. Arold, Dorota Monies

Hum Genomics. 2017; 11: 28. Published online 2017 Nov 14. doi: 10.1186/s40246-017-0124-4

Correction in:: Hum Genomics. 2017; 11: 33.

PMCID:: PMC5686820

Abstract Article PDF–3.4M

Select item 31414316.

Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving

Rachele Cagliani, Stefania Riva, Uberto Pozzoli, Matteo Fumagalli, Giacomo P Comi, Nereo Bresolin, Mario Clerici, Manuela Sironi

BMC Evol Biol. 2011; 11: 171. Published online 2011 Jun 17. doi: 10.1186/1471-2148-11-171

PMCID:: PMC3141431

Abstract Article PDF–851K

Select item 23964257.

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNA^Val carrying the pathogenic C25U mutation

Joanna Rorbach, Abdul Aziz Yusoff, Helen Tuppen, Dyg P. Abg-Kamaludin, Zofia M.A. Chrzanowska-Lightowlers, Robert W. Taylor, Douglass M. Turnbull, Robert McFarland, Robert N. Lightowlers

Nucleic Acids Res. 2008 May; 36(9): 3065–3074. Published online 2008 Apr 8. doi: 10.1093/nar/gkn147

PMCID:: PMC2396425

Abstract Article PDF–1.2M

Select item 41405498.

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Daria Diodato, Laura Melchionda, Tobias B Haack, Cristina Dallabona, Enrico Baruffini, Claudia Donnini, Tiziana Granata, Francesca Ragona, Paolo Balestri, Maria Margollicci, Eleonora Lamantea, Alessia Nasca, Christopher A Powell, Michal Minczuk, Tim M Strom, Thomas Meitinger, Holger Prokisch, Costanza Lamperti, Massimo Zeviani, Daniele Ghezzi

Hum Mutat. 2014 Aug; 35(8): 983–989. Published online 2014 May 14. doi: 10.1002/humu.22590

PMCID:: PMC4140549

Abstract Article PDF–522K

Select item 29591499.

Genetic Predictors of Medically Refractory Ulcerative Colitis

Talin Haritunians, Kent D. Taylor, Stephan R. Targan, Marla Dubinsky, Andrew Ippoliti, Soonil Kwon, Xiuqing Guo, Gil Y. Melmed, Dror Berel, Emebet Mengesha, Bruce M. Psaty, Nicole L. Glazer, Eric A. Vasiliauskas, Jerome I. Rotter, Phillip R. Fleshner, Dermot P.B. McGovern

Inflamm Bowel Dis. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Inflamm Bowel Dis. 2010 Nov; 16(11): 1830–1840. doi: 10.1002/ibd.21293

PMCID:: PMC2959149

Abstract Article PDF–997K

Select item 367479710.

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

Diana L. Cousminer, Diane J. Berry, Nicholas J. Timpson, Wei Ang, Elisabeth Thiering, Enda M. Byrne, H. Rob Taal, Ville Huikari, Jonathan P. Bradfield, Marjan Kerkhof, Maria M. Groen-Blokhuis, Eskil Kreiner-Møller, Marcella Marinelli, Claus Holst, Jaakko T. Leinonen, John R.B. Perry, Ida Surakka, Olli Pietiläinen, Johannes Kettunen, Verneri Anttila, Marika Kaakinen, Ulla Sovio, Anneli Pouta, Shikta Das, Vasiliki Lagou, Chris Power, Inga Prokopenko, David M. Evans, John P. Kemp, Beate St Pourcain, Susan Ring, Aarno Palotie, Eero Kajantie, Clive Osmond, Terho Lehtimäki, Jorma S. Viikari, Mika Kähönen, Nicole M. Warrington, Stephen J. Lye, Lyle J. Palmer, Carla M.T. Tiesler, Claudia Flexeder, Grant W. Montgomery, Sarah E. Medland, Albert Hofman, Hakon Hakonarson, Mònica Guxens, Meike Bartels, Veikko Salomaa, The ReproGen Consortium, Joanne M. Murabito, Jaakko Kaprio, Thorkild I.A. Sørensen, Ferran Ballester, Hans Bisgaard, Dorret I. Boomsma, Gerard H. Koppelman, Struan F.A. Grant, Vincent W.V. Jaddoe, Nicholas G. Martin, Joachim Heinrich, Craig E. Pennell, Olli T. Raitakari, Johan G. Eriksson, George Davey Smith, Elina Hyppönen, Marjo-Riitta Järvelin, Mark I. McCarthy, Samuli Ripatti, Elisabeth Widén, for the Early Growth Genetics (EGG) Consortium

Hum Mol Genet. 2013 Jul 1; 22(13): 2735–2747. Published online 2013 Feb 27. doi: 10.1093/hmg/ddt104

PMCID:: PMC3674797

Abstract Article PDF–432K

Select item 279122011.

Common Genetic Variation and the Control of HIV-1 in Humans

Jacques Fellay, Dongliang Ge, Kevin V. Shianna, Sara Colombo, Bruno Ledergerber, Elizabeth T. Cirulli, Thomas J. Urban, Kunlin Zhang, Curtis E. Gumbs, Jason P. Smith, Antonella Castagna, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Huldrych F. Günthard, Simon Mallal, Cristina Mussini, Judith Dalmau, Javier Martinez-Picado, José M. Miro, Niels Obel, Steven M. Wolinsky, Jeremy J. Martinson, Roger Detels, Joseph B. Margolick, Lisa P. Jacobson, Patrick Descombes, Stylianos E. Antonarakis, Jacques S. Beckmann, Stephen J. O'Brien, Norman L. Letvin, Andrew J. McMichael, Barton F. Haynes, Mary Carrington, Sheng Feng, Amalio Telenti, David B. Goldstein, NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)

PLoS Genet. 2009 Dec; 5(12): e1000791. Published online 2009 Dec 24. doi: 10.1371/journal.pgen.1000791

PMCID:: PMC2791220

Abstract Article PDF–1.7M

Select item 275859812.

High-Density SNP Screening of the Major Histocompatibility Complex in Systemic Lupus Erythematosus Demonstrates Strong Evidence for Independent Susceptibility Regions

Lisa F. Barcellos, Suzanne L. May, Patricia P. Ramsay, Hong L. Quach, Julie A. Lane, Joanne Nititham, Janelle A. Noble, Kimberly E. Taylor, Diana L. Quach, Sharon A. Chung, Jennifer A. Kelly, Kathy L. Moser, Timothy W. Behrens, Michael F. Seldin, Glenys Thomson, John B. Harley, Patrick M. Gaffney, Lindsey A. Criswell

PLoS Genet. 2009 Oct; 5(10): e1000696. Published online 2009 Oct 23. doi: 10.1371/journal.pgen.1000696

PMCID:: PMC2758598

Abstract Article PDF–323K

Select item 662002813.

Mitochondrial ClpP-mediated proteolysis induces selective cancer cell lethality

Jo Ishizawa, Sarah F. Zarabi, R. Eric Davis, Ondrej Halgas, Takenobu Nii, Yulia Jitkova, Ran Zhao, Jonathan St-Germain, Lauren E. Heese, Grace Egan, Vivian R. Ruvolo, Samir H. Barghout, Yuki Nishida, Rose Hurren, Wencai Ma, Marcela Gronda, Todd Link, Keith Wong, Mark Mabanglo, Kensuke Kojima, Gautam Borthakur, Neil MacLean, John Man Chun Ma, Andrew B. Leber, Mark D. Minden, Walid Houry, Hagop Kantarjian, Martin Stogniew, Brian Raught, Emil F. Pai, Aaron D. Schimmer, Michael Andreeff

Cancer Cell. Author manuscript; available in PMC 2020 May 13.

Published in final edited form as: Cancer Cell. 2019 May 13; 35(5): 721–737.e9. Published online 2019 May 2. doi: 10.1016/j.ccell.2019.03.014

PMCID:: PMC6620028

Abstract Article PDF–2.9M

Select item 284527114.

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome

Ricarda Richter, Joanna Rorbach, Aleksandra Pajak, Paul M Smith, Hans J Wessels, Martijn A Huynen, Jan A Smeitink, Robert N Lightowlers, Zofia M Chrzanowska-Lightowlers

EMBO J. 2010 Mar 17; 29(6): 1116–1125. Published online 2010 Feb 25. doi: 10.1038/emboj.2010.14

PMCID:: PMC2845271

Abstract Article PDF–1.3M

Select item 630048715.

Delineating WWOX Protein Interactome by Tandem Affinity Purification-Mass Spectrometry: Identification of Top Interactors and Key Metabolic Pathways Involved

Tabish Hussain, Jaeho Lee, Martin C. Abba, Junjie Chen, C. Marcelo Aldaz

Front Oncol. 2018; 8: 591. Published online 2018 Dec 13. doi: 10.3389/fonc.2018.00591

PMCID:: PMC6300487

Abstract Article PDF–1.8M

Select item 760717416.

Rho‐associated protein kinase‐dependent moesin phosphorylation is required for PD‐L1 stabilization in breast cancer

Fanbiao Meng, Yang Su, Bo Xu

Mol Oncol. 2020 Nov; 14(11): 2701–2712. Published online 2020 Oct 3. doi: 10.1002/1878-0261.12804

PMCID:: PMC7607174

Abstract Article PDF–4.2M

Select item 631799417.

SNIP1 Recruits TET2 to Regulate c-MYC Target Genes and Cellular DNA Damage Response

Lei-Lei Chen, Huai-Peng Lin, Wen-Jie Zhou, Chen-Xi He, Zhi-Yong Zhang, Zhou-Li Cheng, Jun-Bin Song, Peng Liu, Xin-Yu Chen, Yu-Kun Xia, Xiu-Fei Chen, Ren-Qiang Sun, Jing-Ye Zhang, Yi-Ping Sun, Lei Song, Bing-Jie Liu, Rui-Kai Du, Chen Ding, Fei Lan, Sheng-Lin Huang, Feng Zhou, Suling Liu, Yue Xiong, Dan Ye, Kun-Liang Guan

Cell Rep. Author manuscript; available in PMC 2019 Jan 3.

Published in final edited form as: Cell Rep. 2018 Nov 6; 25(6): 1485–1500.e4. doi: 10.1016/j.celrep.2018.10.028

PMCID:: PMC6317994

Abstract Article PDF–1.4M

Select item 773761018.

Receptor‐mediated clustering of FIP200 bypasses the role of LC3 lipidation in autophagy

Amelia E Ohnstad, Jose M Delgado, Brian J North, Isha Nasa, Arminja N Kettenbach, Sebastian W Schultz, Christopher J Shoemaker

EMBO J. 2020 Dec 15; 39(24): e104948. Published online 2020 Nov 23. doi: 10.15252/embj.2020104948

PMCID:: PMC7737610

Abstract Article PDF–3.7M

Select item 631495719.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu

Nat Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z

PMCID:: PMC6314957

Abstract Article PDF–1.3M

Select item 552513320.

Prohibitin 1 regulates tumor cell apoptosis via the interaction with X-linked inhibitor of apoptosis protein

Yingjie Xu, Wen Yang, Jinjun Shi, Bruce R. Zetter

J Mol Cell Biol. 2016 Jun; 8(3): 282–285. Published online 2016 Jul 7. doi: 10.1093/jmcb/mjw018

PMCID:: PMC5525133

Article PDF–1.9M

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