Browse by Journal Title

2021

MLL1 is required for maintenance of intestinal stem cells.
Goveas, N., Waskow, C., Arndt, K., Heuberger, J., Zhang, Q., Alexopoulou, D., Dahl, A., Birchmeier, W., Anastassiadis, K., Stewart, A.F. and Kranz, A.
PLoS Genetics 17 (12): e1009250. 3 December 2021

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain, E., Wilsdon, A., Breckpot, J., Izarzugaza, J.M., Fitzgerald, T.W., Kahlert, A.K., Sifrim, A., Wünnemann, F., Perez-Riverol, Y., Abdul-Khaliq, H., Bak, M., Bassett, A.S., Benson, W.D., Berger, F., Daehnert, I., Devriendt, K., Dittrich, S., Daubeney, P.E., Garg, V., Hackmann, K., Hoff, K., Hofmann, P., Dombrowsky, G., Pickardt, T., Bauer, U., Keavney, B.D., Klaassen, S., Kramer, H.H., Marshall, C.R., Milewicz, D.M., Lemaire, S., Coselli, J.S., Mitchell, M.E., Tomita-Mitchell, A., Prakash, S.K., Stamm, K., Stewart, A.F.R., Silversides, C.K., Siebert, R., Stiller, B., Rosenfeld, J.A., Vater, I., Postma, A.V., Caliebe, A., Brook, J.D., Andelfinger, G., Hurles, M.E., Thienpont, B., Larsen, L.A. and Hitz, M.P.
PLoS Genetics 17 (7): e1009679. 29 July 2021

2020

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.
Swan, A.L., Schütt, C., Rozman, J., Del Mar Muñiz Moreno, M., Brandmaier, S., Simon, M., Leuchtenberger, S., Griffiths, M., Brommage, R., Keskivali-Bond, P., Grallert, H., Werner, T., Teperino, R., Becker, L., Miller, G., Moshiri, A., Seavitt, J.R., Cissell, D.D., Meehan, T.F., Acar, E.F., Lelliott, C.J., Flenniken, A.M., Champy, M.F., Sorg, T., Ayadi, A., Braun, R.E., Cater, H., Dickinson, M.E., Flicek, P., Gallegos, J., Ghirardello, E.J., Heaney, J.D., Jacquot, S., Lally, C., Logan, J.G., Teboul, L., Mason, J., Spielmann, N., McKerlie, C., Murray, S.A., Nutter, L.M.J., Odfalk, K.F., Parkinson, H., Prochazka, J., Reynolds, C.L., Selloum, M., Spoutil, F., Svenson, K.L., Vales, T.S., Wells, S.E., White, J.K., Sedlacek, R., Wurst, W., Lloyd, K.K.C., Croucher, P.I., Fuchs, H., Williams, G.R., Bassett, D., Gailus-Durner, V., Herault, Y., Mallon, A.M., Brown, S.D.M., Mayer-Kuckuk, P. and Hrabe de Angelis, M.
PLoS Genetics 16 (12): e1009190. 28 December 2020

Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Ferreira, M.A.R., Vonk, J.M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J.D., Helmer, Q., Tillander, A., Ullemar, Vi., Lu, Y., Grosche, S., Rüschendorf, F., Granell, R., Brumpton, B.M., Fritsche, L.G., Bhatta, L., Gabrielsen, M.E., Nielsen, J.B., Zhou, W., Hveem, K., Langhammer, A., Holmen, O.L., Løset, M., Abecasis, G.R., Willer, C.J., Emami, N.C., Cavazos, T.B., Witte, J.S., Szwajda, A., Hinds, D.A., Hübner, N., Weidinger, S., Magnusson, P.K., Jorgenson, E., Karlsson, R., Paternoster, L., Boomsma, D.I., Almqvist, C., Lee, Y.A. and Koppelman, G.H.
PLoS Genetics 16 (6): e1008725. 30 June 2020

2019

A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.
Chen, T., Zhang, B., Ziegenhals, T., Prusty, A.B., Fröhler, S., Grimm, C., Hu, Y., Schaefke, B., Fang, L., Zhang, M., Kraemer, N., Kaindl, A.M., Fischer, U. and Chen, W.
PLoS Genetics 15 (10): e1008460. 31 October 2019

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Maggiolini, F.A.M., Cantsilieris, S., D'Addabbo, P., Manganelli, M., Coe, B.P., Dumont, B.L., Sanders, A.D., Pang, A.W.C., Vollger, M.R., Palumbo, O., Palumbo, P., Accadia, M., Carella, M., Eichler, E.E. and Antonacci, F.
PLoS Genetics 15 (3): e1008075. 27 March 2019

2018

The Integrator complex regulates differential snRNA processing and fate of adult stem cells in the highly regenerative planarian Schmidtea mediterranea.
Schmidt, D., Reuter, H., Hüttner, K., Ruhe, L., Rabert, F., Seebeck, F., Irimia, M., Solana, J. and Bartscherer, K.
PLoS Genetics 14 (12): e1007828. 17 December 2018

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Bonnin, E., Cabochette, P., Filosa, A., Jühlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., Supply, L., Martins, N., Pirenne, L., Ravenscroft, G., Lombard, M., Port, S., Spillner, C., Janssens, S., Roets, E., Van Dorpe, J., Lammens, M., Kehlenbach, R.H., Ficner, R., Laing, N.G., Hoffmann, K., Vanhollebeke, B. and Fahrenkrog, B.
PLoS Genetics 14 (12): e1007845. 13 December 2018

Unraveling the transcriptional regulation of TWIST1 in limb development.
Hirsch, N., Eshel, R., Bar Yaacov, R., Shahar, T., Shmulevich, F., Dahan, I., Levaot, N., Kaplan, T., Lupiáñez, D.G. and Birnbaum, R..
PLoS Genetics 14 (10): e1007738. 29 October 2018

Evolutionary plasticity in the innate immune function of Akirin.
Polanowska, J., Chen, J.X., Soulé, J., Omi, S., Belougne, J., Taffoni, C., Pujol, N., Selbach, M., Zugasti, O. and Ewbank, J.J.
PLoS Genetics 14 (7): e1007494. 23 July 2018

Adipose tissue ATGL modifies the cardiac lipidome in pressure-overload-induced left ventricular failure.
Salatzki, J., Foryst-Ludwig, A., Bentele, K., Blumrich, A., Smeir, E., Ban, Z., Brix, S., Grune, J., Beyhoff, N., Klopfleisch, R., Dunst, S., Surma, M.A., Klose, C., Rothe, M., Heinzel, F.R., Krannich, A., Kershaw, E.E., Beule, D., Schulze, P.C., Marx, N. and Kintscher, U.
PLoS Genetics 14 (1): e1007171. 10 January 2018

2017

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
Ravindran, E., Hu, H., Yuzwa, S.A., Hernandez-Miranda, L.R., Kraemer, N., Ninnemann, O., Musante, L., Boltshauser, E., Schindler, D., Hübner, A., Reinecker, H.-C., Ropers, H.-H., Birchmeier, C., Miller, F.D., Wienker, T.F., Hübner, C. and Kaindl, A.M.
PLoS Genetics 13 (4): e1006746. 28 April 2017

2015

Ectodysplasin/NF-κB promotes mammary cell fate via Wnt/β-catenin pathway.
Voutilainen, M., Lindfors, P.H., Trela, E., Loennblad, D., Shirokova, V., Elo, T., Rysti, E., Schmidt-Ullrich, R., Schneider, P. and Mikkola, M.L.
PLoS Genetics 11 (11): e1005676. 18 November 2015

A gene regulatory program for meiotic prophase in the fetal ovary.
Soh, Y.Q.S., Junker, J.P., Gill, M.E., Mueller, J.L., van Oudenaarden, A. and Page, D.C.
PLoS Genetics 11 (9): e1005531. 17 September 2015

In vivo evidence for lysosome depletion and impaired autophagic clearance in hereditary spastic paraplegia type SPG11.
Varga, R.E., Khundadze, M., Damme, M., Nietzsche, S., Hoffmann, B., Stauber, T., Koch, N., Hennings, J.C., Franzka, P., Huebner, A.K., Kessels, M.M., Biskup, C., Jentsch, T.J., Qualmann, B., Braulke, T., Kurth, I., Beetz, C. and Hübner, C.A.
PLoS Genetics 11 (8): e1005454. 18 August 2015

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.
Esparza-Gordillo, J., Matanovic, A., Marenholz, I., Bauerfeind, A., Rohde, K., Nemat, K., Lee-Kirsch, M.A., Nordenskjöld, M., Winge, M.C.G., Keil, T., Krüger, R., Lau, S., Beyer, K., Kalb, B., Niggemann, B., Hübner, N., Cordell, H.J., Bradley, M. and Lee, Y.A.
PLoS Genetics 11 (3): e1005076. 10 March 2015

Licensing of primordial germ cells for gametogenesis depends on genital ridge signaling.
Hu, Y.C., Nicholls, P.K., Soh, Y.Q.S., Daniele, J.R., Junker, J.P., van Oudenaarden, A. and Page, D.C.
PLoS Genetics 11 (3): e1005019. 4 March 2015

microRNAs regulate cell-to-cell variability of endogenous target gene expression in developing mouse thymocytes.
Blevins, R., Bruno, L., Carroll, T., Elliott, J., Marcais, A., Loh, C., Hertweck, A., Krek, A., Rajewsky, N., Chen, C.Z., Fisher, A.G. and Merkenschlager, M.
PLoS Genetics 11 (2): e1005020. 25 February 2015

2014

Suicidal autointegration of Sleeping Beauty and piggyBac transposons in eukaryotic cells.
Wang, Y., Wang, J., Devaraj, A., Singh, M., Jimenez Orgaz, A., Chen, J.X., Selbach, M., Ivics, Z. and Izsvák, Z.
PLoS Genetics 10 (3): e1004103. 13 March 2014

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly.
Metodiev, M.D., Spåhr, H., Loguercio Polosa, P., Meharg, C., Becker, C., Altmueller, J., Habermann, B., Larsson, N.G. and Ruzzenente, B.
PLoS Genetics 10 (2): e1004110. February 2014

2013

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
Cevik, S., Sanders, A.A.W.M., Van Wijk, E., Boldt, K., Clarke, L., van Reeuwijk, J., Hori, Y., Horn, N., Hetterschijt, L., Wdowicz, A., Mullins, A., Kida, K., Kaplan, O.I., van Beersum, S.E.C., Man Wu, K., Letteboer, S.J.F., Mans, D.A., Katada, T., Kontani, K., Ueffing, M., Roepman, R., Kremer, H. and Blacque, O.E.
PLoS Genetics 9 (12): e1003977. December 2013

The CCR4-NOT complex mediates deadenylation and degradation of stem cell mRNAs and promotes planarian stem cell differentiation.
Solana, J., Gamberi, C., Mihaylova, Y., Grosswendt, S., Chen, C., Lasko, P., Rajewsky, N. and Aboobaker, A.A.
PLoS Genetics 9 (12): e1004003. December 2013

Comparative oncogenomic analysis of copy number alterations in human and zebrafish tumors enables cancer driver discovery.
Zhang, G., Hoersch, S., Amsterdam, A., Whittaker, C.A., Beert, E., Catchen, J.M., Farrington, S., Postlethwait, J.H., Legius, E., Hopkins, N. and Lees, J.A.
PLoS Genetics 9 (8): e1003734. August 2013

Fine time course expression analysis identifies cascades of activation and repression and maps a putative regulator of Mammalian sex determination.
Munger, S.C., Natarajan, A., Looger, L.L., Ohler, U. and Capel, B.
PLoS Genetics 9 (7): e1003630. 11 July 2013

Dynamic circadian protein-protein interaction networks predict temporal organization of cellular functions.
Wallach, T, Schellenberg, K, Maier, B, Kalathur, R.K., Porras, P., Wanker, E.E., Futschik, M.E. and Kramer, A.
PLoS Genetics 9 (3): e1003398. March 2013

Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity.
Schaffer, A.E., Taylor, B.L., Benthuysen, J.R., Liu, J., Thorel, F., Yuan, W., Jiao, Y., Kaestner, K.H., Herrera, P.L., Magnuson, M.A., May, C.L. and Sander, M.
PLoS Genetics 9 (1): e1003274. 31 January 2013

2012

Rare copy number variants contribute to congenital left-sided heart disease.
Hitz, M.P., Lemieux-Perreault, L.P., Marshall, C., Feroz-Zada, Y., Davies, R., Yang, S.W., Lionel, A.C., D'Amours, G., Lemyre, E., Cullum, R., Bigras, J.L., Thibeault, M., Chetaille, P., Montpetit, A., Khairy, P., Overduin, B., Klaassen, S., Hoodless, P., Awadalla, P., Hussin, J., Idaghdour, Y., Nemer, M., Stewart, A.F., Boerkoel, C., Scherer, S.W., Richter, A., Dube, M.P. and Andelfinger, G.
PLoS Genetics 8 (9): e1002903. 6 September 2012

Identification of human proteins that modify misfolding and proteotoxicity of pathogenic ataxin-1.
Petrakis, S., Rasko, T., Russ, J., Friedrich, R.P., Stroedicke, M., Riechers, S.P., Muehlenberg, K., Moeller, A., Reinhardt, A., Vinayagam, A., Schaefer, M.H., Boutros, M., Tricoire, H., Andrade-Navarro, M.A. and Wanker, E.E.
PLoS Genetics 8 (8): e1002897. 16 August 2012

Base-pair resolution DNA methylation sequencing reveals profoundly divergent epigenetic landscapes in acute myeloid leukemia.
Akalin, A., Garrett-Bakelman, F.E., Kormaksson, M., Busuttil, J., Zhang, L., Khrebtukova, I., Milne, T.A., Huang, Y., Biswas, D., Hess, J.L., Allis, C.D., Roeder, R.G., Valk, P.J.M., Loewenberg, B., Delwel, R., Fernandez, H.F., Paietta, E., Tallman, M.S., Schroth, G.P., Mason, C.E., Melnick, A. and Figueroa, M.E.
PLoS Genetics 8 (6): e1002781. 21 June 2012

An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity.
Kuehnen, P., Mischke, M., Wiegand, S., Sers, C., Horsthemke, B., Lau, S., Keil, T., Lee, Y.A., Grueters, A. and Krude, H.
PLoS Genetics 8 (3): e1002543. 15 March 2012

2011

MicroRNA expression and regulation in human, chimpanzee, and macaque brains.
Hu, H.Y., Guo, S., Xi, J., Yan, Z., Fu, N., Zhang, X., Menzel, C., Liang, H., Yang, H., Zhao, M., Zeng, R., Chen, W., Paeaebo, S. and Khaitovich, P.
PLoS Genetics 7 (10): e1002327. October 2011

Elevated proteasome capacity extends replicative lifespan in Saccharomyces cerevisiae.
Kruegel, U., Robison, B., Dange, T., Kahlert, G., Delaney, J.R., Kotireddy, S., Tsuchiya, M., Tsuchiyama, S., Murakami, C.J., Schleit, J., Sutphin, G., Carr, D., Tar, K., Dittmar, G., Kaeberlein, M., Kennedy, B.K. and Schmidt, M.
PLoS Genetics 7 (9): e1002253. September 2011

A conserved PHD finger protein and endogenous RNAi modulate insulin signaling in caenorhabditis elegans.
Mansisidor, A.R., Cecere, G., Hoersch, S., Jensen, M.B., Kawli, T., Kennedy, L.M., Chavez, V., Tan, M.W., Lieb, J.D. and Grishok, A.
PLoS Genetics 7 (9): e1002299. September 2011

Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes pelizaeus-merzbacher-like disease in humans.
Tress, O., Maglione, M., Zlomuzica, A., May, D., Dicke, N., Degen, J., Dere, E., Kettenmann, H., Hartmann, D. and Willecke, K.
PLoS Genetics 7 (7): e1002146. July 2011

Polycomb targets seek closest neighbours.
Chotalia, M. and Pombo, A.
PLoS Genetics 7 (3): e1002031. March 2011

The cardiac transcription network modulated by Gata4, Mef2a, Nkx2.5, Srf, histone modifications, and microRNAs.
Schlesinger, J., Schueler, M., Grunert, M., Fischer, J.J., Zhang, Q., Krueger, T., Lange, M., Toenjes, M., Dunkel, I. and Sperling, S.R.
PLoS Genetics 7 (2): e1001313. February 2011

Transcription initiation patterns indicate divergent strategies for gene regulation at the chromatin level.
Rach, E.A., Winter, D.R., Benjamin, A.M., Corcoran, D.L., Ni, T., Zhu, J. and Ohler, U.
PLoS Genetics 7 (1): e1001274. 13 January 2011

2010

Identification of Y-box binding protein 1 as a core regulator of MEK/ERK pathway-dependent gene signatures in colorectal cancer cells.
Juerchott, K., Kuban, R.J., Krech, T., Blüthgen, N., Stein, U., Walther, W., Friese, C., Kielbasa, S.M., Ungethuem, U., Lund, P., Knoesel, T., Kemmner, W., Morkel, M., Fritzmann, J., Schlag, P.M., Birchmeier, W., Krueger, T., Sperling, S., Sers, C., Royer, H.D., Herzel, H. and Schaefer, R.
PLoS Genetics 6 (12): e1001231. 2 December 2010

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Rajab, A., Straub, V., McCann, L.J., Seelow, D., Varon, R., Barresi, R., Schulze, A., Lucke, B., Luetzkendorf, S., Karbasiyan, M., Bachmann, S., Spuler, S. and Schuelke, M.
PLoS Genetics 6 (3): e1000874. 12 March 2010

2009

A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Hildebrandt, F., Heeringa, S.F., Rueschendorf, F., Attanasio, M., Nuernberg, G., Becker, C., Seelow, D., Huebner, N., Chernin, G., Vlangos, C.N., Zhou, W., O'Toole, J.F., Hoskins, B.E., Wolf, M.T., Hinkes, B.G., Chaib, H., Ashraf, S., Allen, S.J., Vega-Warner, V., Wise, E., Harville, H.M., Lyons, R.H., Washburn, J., Macdonald, J., Nuernberg, P. and Otto, E.A.
PLoS Genetics 5 (1): e1000353. 23 January 2009

2008

Evolution of a core gene network for skeletogenesis in chordates.
Hecht, J., Stricker, S., Wiecha, U., Stiege, A., Panopoulou, G., Podsiadlowski, L., Poustka, A.J., Dieterich, C., Ehrich, S., Suvorova, J., Mundlos, S. and Seitz, V.
PLoS Genetics 4 (3): e1000025. 21 March 2008

Transcription and chromatin organization of a housekeeping gene cluster containing an integrated beta-globin locus control region.
Noordermeer, D., Branco, M.R., Splinter, E., Klous, P., van Ijcken, W., Swagemakers, S., Koutsourakis, M., van der Spek, P., Pombo, A. and de Laat, W.
PLoS Genetics 4 (3): e1000016. 7 March 2008

2007

Genome-wide linkage analysis of malaria infection intensity and mild disease.
Timmann, C., Evans, J.A., Koenig, I.R., Kleensang, A., Ruschendorf, F., Lenzen, J., Sievertsen, J., Becker, C., Enuameh, Y., Kwakye, K.O., Opoku, E., Browne, E.N., Ziegler, A., Nurnberg, P. and Horstmann, R.D.
PLoS Genetics 3 (3): 393-400. 23 March 2007

2006

Assessing systems properties of yeast mitochondria through an interaction map of the organelle.
Perocchi, F., Jensen, L.J., Gagneur, J., Ahting, U., von Mering, C., Bork, P., Prokisch, H. and Steinmetz, L.M.
PLoS Genetics 2 (10): 1612-1624. 20 October 2006

Heritability and tissue specificity of expression quantitative trait loci.
Petretto, E., Mangion, J., Dickens, N.J., Cook, S.A., Kumaran, M.K., Lu, H., Fischer, J., Maatz, H., Kren, V., Pravenec, M., Hubner, N. and Aitman, T.J.
PLoS Genetics 2 (10): 1625-1633. 20 October 2006

Haplotype block structure is conserved across mammals.
Guryev, V., Smits, B.M., van de Belt, J., Verheul, M., Hubner, N. and Cuppen, E.
PLoS Genetics 2 (7): 1111-1118. 28 July 2006

Complex loci in human and mouse genomes.
Engstroem, P.G., Suzuki, H., Ninomiya, N., Akalin, A., Sessa, L., Lavorgna, G., Brozzi, A., Luzi, L., Tan, S.L., Yang, L., Kunarso, G., Ng, E.L.C., Batalov, S., Wahlestedt, C., Kai, C., Kawai, J., Carninci, P., Hayashizaki, Y., Wells, C., Bajic, V.B., Orlando, V., Reid, J.F., Lenhard, B. and Lipovich, L.
PLoS Genetics 2 (4): 564-577. 28 April 2006