2012 Publications PDF Print E-mail

Tubulin tyrosine ligase like 12, a TTLL family member with SET- and TTL-like domains and roles in histone and tubulin modifications and mitosis.

Brants J, Semenchenko K, Wasylyk C, Robert A, Carles A, Zambrano A, Pradeau-Aubreton K, Birck C, Schalken JA, Poch O, de Mey J, Wasylyk B.

PLoS One. 2012;7(12):e51258.

 

Toward community standards in the quest for orthologs.

Dessimoz C, Gabaldón T, Roos DS, Sonnhammer EL, Herrero J; Quest for Orthologs Consortium.

Bioinformatics. 2012 28(6):900-4.

 

Increased frequency of single base substitutions in a population of transcripts expressed in cancer cells.

Bianchetti L, Kieffer D, Féderkeil R, Poch O.

BMC Cancer. 2012 12:509.

 

Autosomal mutations and human spermatogenic failure.

El Inati E, Muller J, Viville S.

Biochim Biophys Acta. 2012 Dec;1822(12):1873-9.

 

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12.

 

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S.

Hum Mol Genet. 2012 Aug 15;21(16):3695-702.

 

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, Biancalana V, Laporte J.

Acta Neuropathol. 2012 Aug;124(2):273-83.

 

Defective membrane remodeling in neuromuscular diseases: insights from animal models.

Cowling BS, Toussaint A, Muller J, Laporte J.

PLoS Genet. 2012;8(4):e1002595


Functional classification of genes using semantic distance and fuzzy clustering approach: evaluation with reference sets and overlap analysis.

Devignes MD, Benabderrahmane S, Smaïl-Tabbone M, Napoli A, Poch O.

Int J Comput Biol Drug Des. 2012;5(3-4):245-60.


The chordate proteome history database.

Levasseur A, Paganini J, Dainat J, Thompson JD, Poch O, Pontarotti P, Gouret P.

Evol Bioinform Online. 2012;8:437-47.


Evolutionary analysis of the ENTH/ANTH/VHS protein superfamily reveals a coevolution between membrane trafficking and metabolism.

De Craene JO, Ripp R, Lecompte O, Thompson JD, Poch O, Friant S.

BMC Genomics. 2012 Jul 2;13:297.


RNA polymerase II pausing downstream of core histone genes is different from genes producing polyadenylated transcripts.

Anamika K, Gyenis À, Poidevin L, Poch O, Tora L.

PLoS One. 2012;7(6):e38769.


KD4v: Comprehensible Knowledge Discovery System for Missense Variant.

Luu TD, Rusu A, Walter V, Linard B, Poidevin L, Ripp R, Moulinier L, Muller J, Raffelsberger W, Wicker N, Lecompte O, Thompson JD, Poch O, Nguyen H.

Nucleic Acids Res. 2012 Jul;40(Web Server issue):W71-5.


MSV3d: database of human MisSense Variants mapped to 3D protein structure.

Luu TD, Rusu AM, Walter V, Ripp R, Moulinier L, Muller J, Toursel T, Thompson JD, Poch O, Nguyen H.

Database (Oxford). 2012 Apr 3;2012:bas018.


Proteome adaptation to high temperatures in the ectothermic hydrothermal vent Pompeii worm.

Jollivet D, Mary J, Gagnière N, Tanguy A, Fontanillas E, Boutet I, Hourdez S, Segurens B, Weissenbach J, Poch O, Lecompte O.

PLoS One. 2012;7(2):e31150.


Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity.

Jaillard C, Mouret A, Niepon ML, Clérin E, Yang Y, Lee-Rivera I, Aït-Ali N, Millet-Puel G, Cronin T, Sedmak T, Raffelsberger W, Kinzel B, Trembleau A, Poch O, Bennett J, Wolfrum U, Lledo PM, Sahel JA, Léveillard T.

Hum Mol Genet. 2012 May 15;21(10):2298-311.

 

In vivo topoisomerase I inhibition attenuates the expression of hypoxia-inducible factor 1α target genes and decreases tumor angiogenesis.

Guérin E, Raffelsberger W, Pencreach E, Maier A, Neuville A, Schneider A, Bachellier P, Rohr S, Petitprez A, Poch O, Moras D, Oudet P, Larsen AK, Gaub MP, Guenot D.

Mol Med. 2012 Feb 10;18:83-94.


Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C.

Am J Hum Genet. 2012 Feb 10;90(2):321-30.


EvoluCode: Evolutionary Barcodes as a Unifying Framework for Multilevel Evolutionary Data.

Linard B, Nguyen NH, Prosdocimi F, Poch O, Thompson JD.

Evol Bioinform Online. 2012;8:61-77.


Controversies in modern evolutionary biology: the imperative for error detection and quality control.

Prosdocimi F, Linard B, Pontarotti P, Poch O, Thompson JD.

BMC Genomics. 2012 Jan 4;13:5.