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Items: 1 to 20 of 344

1.

Deciphering the mechanism of action of 089, a compound impairing the fungal cell cycle.

Stefanini I, Rizzetto L, Rivero D, Carbonell S, Gut M, Heath S, Gut IG, Trabocchi A, Guarna A, Ben Ghazzi N, Bowyer P, Kapushesky M, Cavalieri D.

Sci Rep. 2018 Apr 13;8(1):5964. doi: 10.1038/s41598-018-24341-y.

2.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.

Eur J Hum Genet. 2018 Feb 27. doi: 10.1038/s41431-018-0115-5. [Epub ahead of print]

PMID:
29487416
3.

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

Vivanti A, Ozanne A, Grondin C, Saliou G, Quevarec L, Maurey H, Aubourg P, Benachi A, Gut M, Gut I, Martinovic J, Sénat MV, Tawk M, Melki J.

Brain. 2018 Apr 1;141(4):979-988. doi: 10.1093/brain/awy020.

PMID:
29444212
4.

Genomic and Phenotypic Variation in Morphogenetic Networks of Two Candida albicans Isolates Subtends Their Different Pathogenic Potential.

Cavalieri D, Di Paola M, Rizzetto L, Tocci N, De Filippo C, Lionetti P, Ardizzoni A, Colombari B, Paulone S, Gut IG, Berná L, Gut M, Blanc J, Kapushesky M, Pericolini E, Blasi E, Peppoloni S.

Front Immunol. 2018 Jan 19;8:1997. doi: 10.3389/fimmu.2017.01997. eCollection 2017.

5.

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA.

Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. Epub 2018 Jan 8.

6.

Quantitative DNA Methylation Analysis at Single-Nucleotide Resolution by Pyrosequencing®.

Busato F, Dejeux E, El Abdalaoui H, Gut IG, Tost J.

Methods Mol Biol. 2018;1708:427-445. doi: 10.1007/978-1-4939-7481-8_22.

PMID:
29224157
7.

Morphometric, Behavioral, and Genomic Evidence for a New Orangutan Species.

Nater A, Mattle-Greminger MP, Nurcahyo A, Nowak MG, de Manuel M, Desai T, Groves C, Pybus M, Sonay TB, Roos C, Lameira AR, Wich SA, Askew J, Davila-Ross M, Fredriksson G, de Valles G, Casals F, Prado-Martinez J, Goossens B, Verschoor EJ, Warren KS, Singleton I, Marques DA, Pamungkas J, Perwitasari-Farajallah D, Rianti P, Tuuga A, Gut IG, Gut M, Orozco-terWengel P, van Schaik CP, Bertranpetit J, Anisimova M, Scally A, Marques-Bonet T, Meijaard E, Krützen M.

Curr Biol. 2017 Nov 20;27(22):3576-3577. doi: 10.1016/j.cub.2017.11.020. No abstract available.

PMID:
29161551
8.

Gene Expression Profiling Reveals Novel Candidate Markers of Ovarian Carcinoma Intraperitoneal Metastasis.

Elsnerova K, Bartakova A, Tihlarik J, Bouda J, Rob L, Skapa P, Hruda M, Gut I, Mohelnikova-Duchonova B, Soucek P, Vaclavikova R.

J Cancer. 2017 Oct 9;8(17):3598-3606. doi: 10.7150/jca.20766. eCollection 2017.

9.

Morphometric, Behavioral, and Genomic Evidence for a New Orangutan Species.

Nater A, Mattle-Greminger MP, Nurcahyo A, Nowak MG, de Manuel M, Desai T, Groves C, Pybus M, Sonay TB, Roos C, Lameira AR, Wich SA, Askew J, Davila-Ross M, Fredriksson G, de Valles G, Casals F, Prado-Martinez J, Goossens B, Verschoor EJ, Warren KS, Singleton I, Marques DA, Pamungkas J, Perwitasari-Farajallah D, Rianti P, Tuuga A, Gut IG, Gut M, Orozco-terWengel P, van Schaik CP, Bertranpetit J, Anisimova M, Scally A, Marques-Bonet T, Meijaard E, Krützen M.

Curr Biol. 2017 Nov 20;27(22):3487-3498.e10. doi: 10.1016/j.cub.2017.09.047. Epub 2017 Nov 2. Erratum in: Curr Biol. 2017 Nov 20;27(22):3576-3577.

PMID:
29103940
10.

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Abiusi E, D'Alessandro M, Dieterich K, Quevarec L, Turczynski S, Valfort AC, Mezin P, Jouk PS, Gut M, Gut I, Bessereau JL, Melki J.

Hum Mol Genet. 2017 Oct 15;26(20):3989-3994. doi: 10.1093/hmg/ddx288.

PMID:
29016857
11.

Adaptive Mistranslation Accelerates the Evolution of Fluconazole Resistance and Induces Major Genomic and Gene Expression Alterations in Candida albicans.

Weil T, Santamaría R, Lee W, Rung J, Tocci N, Abbey D, Bezerra AR, Carreto L, Moura GR, Bayés M, Gut IG, Csikasz-Nagy A, Cavalieri D, Berman J, Santos MAS.

mSphere. 2017 Aug 9;2(4). pii: e00167-17. doi: 10.1128/mSphere.00167-17. eCollection 2017 Jul-Aug.

12.

Influence of lung CT changes in chronic obstructive pulmonary disease (COPD) on the human lung microbiome.

Engel M, Endesfelder D, Schloter-Hai B, Kublik S, Granitsiotis MS, Boschetto P, Stendardo M, Barta I, Dome B, Deleuze JF, Boland A, Müller-Quernheim J, Prasse A, Welte T, Hohlfeld J, Subramanian D, Parr D, Gut IG, Greulich T, Koczulla AR, Nowinski A, Gorecka D, Singh D, Gupta S, Brightling CE, Hoffmann H, Frankenberger M, Hofer TP, Burggraf D, Heiss-Neumann M, Ziegler-Heitbrock L, Schloter M, Zu Castell W.

PLoS One. 2017 Jul 13;12(7):e0180859. doi: 10.1371/journal.pone.0180859. eCollection 2017.

13.

A DNA methylation map of human cancer at single base-pair resolution.

Vidal E, Sayols S, Moran S, Guillaumet-Adkins A, Schroeder MP, Royo R, Orozco M, Gut M, Gut I, Lopez-Bigas N, Heyn H, Esteller M.

Oncogene. 2017 Oct 5;36(40):5648-5657. doi: 10.1038/onc.2017.176. Epub 2017 Jun 5.

14.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

15.

In vivo binding of PRDM9 reveals interactions with noncanonical genomic sites.

Grey C, Clément JA, Buard J, Leblanc B, Gut I, Gut M, Duret L, de Massy B.

Genome Res. 2017 Apr;27(4):580-590. doi: 10.1101/gr.217240.116. Epub 2017 Mar 23.

16.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J.

Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16.

17.

Mex3a Marks a Slowly Dividing Subpopulation of Lgr5+ Intestinal Stem Cells.

Barriga FM, Montagni E, Mana M, Mendez-Lago M, Hernando-Momblona X, Sevillano M, Guillaumet-Adkins A, Rodriguez-Esteban G, Buczacki SJA, Gut M, Heyn H, Winton DJ, Yilmaz OH, Attolini CS, Gut I, Batlle E.

Cell Stem Cell. 2017 Jun 1;20(6):801-816.e7. doi: 10.1016/j.stem.2017.02.007. Epub 2017 Mar 9.

18.

Single-cell transcriptome conservation in cryopreserved cells and tissues.

Guillaumet-Adkins A, Rodríguez-Esteban G, Mereu E, Mendez-Lago M, Jaitin DA, Villanueva A, Vidal A, Martinez-Marti A, Felip E, Vivancos A, Keren-Shaul H, Heath S, Gut M, Amit I, Gut I, Heyn H.

Genome Biol. 2017 Mar 1;18(1):45. doi: 10.1186/s13059-017-1171-9.

19.

Correction: Mitochondrial Complex I Is a Global Regulator of Secondary Metabolism, Virulence and Azole Sensitivity in Fungi.

Bromley M, Johns A, Davies E, Fraczek M, Gilsenan JM, Kurbatova N, Keays M, Kapushesky M, Gut M, Gut I, Denning DW, Bowyer P.

PLoS One. 2017 Feb 2;12(2):e0171787. doi: 10.1371/journal.pone.0171787. eCollection 2017.

20.

Splenic diffuse red pulp small B-cell lymphoma displays increased expression of cyclin D3 and recurrent CCND3 mutations.

Curiel-Olmo S, Mondéjar R, Almaraz C, Mollejo M, Cereceda L, Marès R, Derdak S, Campos-Martín Y, Batlle A, González de Villambrosía S, Gut M, Blanc J, Traverse-Glehen A, Verney A, Baseggio L, Camacho FI, Wotherspoon A, Stamatopoulos K, Xochelli A, Papadaki T, Kanellis G, Ponzoni M, García-Cosío M, Vaqué JP, Beltrán S, Gut I, Piris MA, Martínez N.

Blood. 2017 Feb 23;129(8):1042-1045. doi: 10.1182/blood-2016-11-751024. Epub 2017 Jan 9. No abstract available.

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