Genomes and Genes
Experts and Doctors on proteins in Paris, Île de France, France
Locale: Paris, Île de France, France
Publications107 found, 100 shown here
- Zhao J, Ardaillou N, Lu C, Placier S, Pham P, Badre L, et al. Characterization of C-type natriuretic peptide receptors in human mesangial cells. Kidney Int. 1994;46:717-25 pubmed..ANPR-A, ANPR-B and ANPR-C mRNA were present in epithelial cells whereas only ANPR-B and ANPR-C mRNA were detected in mesangial cells.(ABSTRACT TRUNCATED AT 250 WORDS) ..
- Cormier P, Osborne H, Morales J, Bassez T, Minella O, Poulhe R, et al. Elongation factor 1 contains two homologous guanine-nucleotide exchange proteins as shown from the molecular cloning of beta and delta subunits. Nucleic Acids Res. 1993;21:743 pubmed
- Goutebroze L, Brault E, Muchardt C, Camonis J, Thomas G. Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. Mol Cell Biol. 2000;20:1699-712 pubmed..Our observations suggest that SCHIP-1 interaction with schwannomin is regulated by conformational changes in schwannomin, possibly induced by posttranslational modifications, alternative splicing, or mutations. ..
- Kerjean A, Dupont J, Vasseur C, Le Tessier D, Cuisset L, Paldi A, et al. Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis. Hum Mol Genet. 2000;9:2183-7 pubmed..The paternal-specific imprint is re-established only later, during spermatogonial differentiation in the adult testis. ..
- Azuara C, Lindahl E, Koehl P, Orland H, Delarue M. PDB_Hydro: incorporating dipolar solvents with variable density in the Poisson-Boltzmann treatment of macromolecule electrostatics. Nucleic Acids Res. 2006;34:W38-42 pubmed
- Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, et al. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat. 2007;28:523-4 pubmed..4050 years) ago. We also identified a common MKS3 splice-site mutation, c.1575+1G>A, in five Pakistani sibships of three unrelated families of Mirpuri origin, with an estimated age-of-mutation of 5 generations (125 years). ..
- Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008;131:772-84 pubmed..In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype. ..
- Denora P, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, et al. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat. 2009;30:E500-19 pubmed publisher..While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. ..
- Brezar V, Culina S, Østerbye T, Guillonneau F, Chiappetta G, Verdier Y, et al. T cells recognizing a peptide contaminant undetectable by mass spectrometry. PLoS ONE. 2011;6:e28866 pubmed publisher..If left undetected, minute impurities in synthetic peptide preparations may thus give spurious results. ..
- Rahaman O, Melchionna S, Laage D, Sterpone F. The effect of protein composition on hydration dynamics. Phys Chem Chem Phys. 2013;15:3570-6 pubmed publisher..Upon unfolding the water dynamics slowdown with respect to bulk decreases by a factor of two. Our findings are explained by the dominant topological perturbation induced by the protein on the water hydrogen bond dynamics. ..
- Gombert J, Tancrede Bohin E, Hameg A, Leite De Moraes M, Vicari A, Bach J, et al. IL-7 reverses NK1+ T cell-defective IL-4 production in the non-obese diabetic mouse. Int Immunol. 1996;8:1751-8 pubmed..These findings confirm the role of IL-7 in NK1+ T cell maturation and suggest that the NK1+ T cell defect in NOD mice could be related to insufficient intrathymic IL-7 bioavailability. ..
- Sahly I, Gogat K, Kobetz A, Marchant D, Menasche M, Castel M, et al. Prominent neuronal-specific tub gene expression in cellular targets of tubby mice mutation. Hum Mol Genet. 1998;7:1437-47 pubmed
- Jabado N, Jauliac S, Pallier A, Bernard F, Fischer A, Hivroz C. Sam68 association with p120GAP in CD4+ T cells is dependent on CD4 molecule expression. J Immunol. 1998;161:2798-803 pubmed..This formation of transduction modules will enable the activation of different signaling cascades including the p21ras pathway and an array of downstream events, ultimately leading to T cell activation. ..
- Zhang P, Jobert A, Couvineau A, Silve C. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab. 1998;83:3365-8 pubmed
- Rodrigues S, Attoub S, Nguyen Q, Bruyneel E, Rodrigue C, Westley B, et al. Selective abrogation of the proinvasive activity of the trefoil peptides pS2 and spasmolytic polypeptide by disruption of the EGF receptor signaling pathways in kidney and colonic cancer cells. Oncogene. 2003;22:4488-97 pubmed..It is concluded that although pS2, SP and ITF belong to the same family of inflammation- and cancer-associated regulatory peptides, they do not control identical signaling networks. ..
- Kadaré G, Toutant M, Formstecher E, Corvol J, Carnaud M, Boutterin M, et al. PIAS1-mediated sumoylation of focal adhesion kinase activates its autophosphorylation. J Biol Chem. 2003;278:47434-40 pubmed..These observations show that sumoylation controls the activity of a protein kinase and suggest that FAK may play a novel role in signaling between the plasma membrane and the nucleus. ..
- Seeler J, Bischof O, Nacerddine K, Dejean A. SUMO, the three Rs and cancer. Curr Top Microbiol Immunol. 2007;313:49-71 pubmed..Here we review recent evidence for SUMO's role in protecting genomic integrity at both the chromosomal and the DNA level. Furthermore, the involvement of sumoylation and of specific SUMO targets in cancer is discussed. ..
- Simon C, Dondi E, Chaix A, de Sepulveda P, Kubiseski T, Varin Blank N, et al. Lnk adaptor protein down-regulates specific Kit-induced signaling pathways in primary mast cells. Blood. 2008;112:4039-47 pubmed publisher..Altogether, our results demonstrate that Lnk, through its binding to Kit tyrosine 567, negatively modulates specific SCF-dependent signaling pathways involved in the proliferation and migration of primary hematopoietic cells. ..
- Murmu R, Martin E, Rastetter A, Esteves T, Muriel M, El Hachimi K, et al. Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol Cell Neurosci. 2011;47:191-202 pubmed publisher..This first study of the endogenous expression of spatacsin and spastizin shows similarities in their expression patterns that could account for their overlapping clinical phenotypes and involvement in a common protein complex. ..
- Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, et al. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J Med Genet. 2012;49:410-6 pubmed publisher..CCDC39 and CCDC40 analyses in selected patients ensure mutations are found with high probability, even if clinical or ciliary phenotypes cannot prioritise one analysis over the other. ..
- Ciura S, Lattante S, Le Ber I, Latouche M, Tostivint H, Brice A, et al. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol. 2013;74:180-7 pubmed publisher..These results reveal a pathogenic consequence of decreased C9orf72 levels, supporting a loss of function mechanism of disease...
- Touchot N, Zahraoui A, Vielh E, Tavitian A. Biochemical properties of the YPT-related rab1B protein. Comparison with rab1A. FEBS Lett. 1989;256:79-84 pubmed..The rab1B Lys21----Met mutant protein does not bind GTP, whereas the Ala65----Thr mutant has a reduced GTPase activity and is competent for autophosphorylation in the presence of GTP. ..
- Jabado N, Pallier A, Le Deist F, Bernard F, Fischer A, Hivroz C. CD4 ligands inhibit the formation of multifunctional transduction complexes involved in T cell activation. J Immunol. 1997;158:94-103 pubmed..This may result in inefficient signaling, partially accounting for the inhibitory effects of the CD4 ligands on both p21ras and calcium-activation pathways. ..
- Frey S, Bertocci B, Delbos F, Quint L, Weill J, Reynaud C. Mismatch repair deficiency interferes with the accumulation of mutations in chronically stimulated B cells and not with the hypermutation process. Immunity. 1998;9:127-34 pubmed..We thus propose that the amount of DNA damages generated prevents these cells from recycling in germinal centers and that mismatch repair deficiency is only the indirect cause of the lower mutation incidence observed. ..
- Callebaut I. An EVH1/WH1 domain as a key actor in TGFbeta signalling. FEBS Lett. 2002;519:178-80 pubmed..This finding highlights the pivotal role that the EVH1/WH1 family of domains play in multiple eukaryotic signal transduction pathways. ..
- Dadoune J. Expression of mammalian spermatozoal nucleoproteins. Microsc Res Tech. 2003;61:56-75 pubmed
- Do H, Vasilescu A, Diop G, Hirtzig T, Heath S, Coulonges C, et al. Exhaustive genotyping of the CEM15 (APOBEC3G) gene and absence of association with AIDS progression in a French cohort. J Infect Dis. 2005;191:159-63 pubmed..There were no significant associations between the polymorphisms or haplotypes of CEM15 and a disease progression phenotype in our cohort. ..
- Breuiller Fouche M, Germain G. Gene and protein expression in the myometrium in pregnancy and labor. Reproduction. 2006;131:837-50 pubmed..These studies also represent an indicative step that will have to be paralleled, in the future, with the results of the systematic proteomic analysis of the myometrium. ..
- Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update. Curr Opin Neurol. 2007;20:674-80 pubmed..Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing...
- Engelen S, Trojan L, Sacquin Mora S, Lavery R, Carbone A. Joint evolutionary trees: a large-scale method to predict protein interfaces based on sequence sampling. PLoS Comput Biol. 2009;5:e1000267 pubmed publisher..JET is compared at a large scale to ET and to Consurf, Rate4Site, siteFiNDER|3D, and SCORECONS on specific structures. A significant improvement in performance and computational efficiency is shown. ..
- Imen J, Billiet L, Cuaz Pérolin C, Michaud N, Rouis M. The regulated in development and DNA damage response 2 (REDD2) gene mediates human monocyte cell death through a reduction in thioredoxin-1 expression. Free Radic Biol Med. 2009;46:1404-10 pubmed publisher..Indeed, in certain patients, levels of REDD2 mRNA were low and those of Trx-1 mRNA were high. In contrast, in other patients, levels of REDD2 were high and levels of Trx-1 mRNA were low. ..
- Bindea G, Galon J, Mlecnik B. CluePedia Cytoscape plugin: pathway insights using integrated experimental and in silico data. Bioinformatics. 2013;29:661-3 pubmed publisher..The CluePedia Cytoscape plugin is user-friendly and has an expressive and intuitive visualization. http://www.ici.upmc.fr/cluepedia/ and via the Cytoscape plugin manager. The user manual is available at the CluePedia website. ..
- Boyer S, Biswas D, Kumar Soshee A, Scaramozzino N, Nizak C, Rivoire O. Hierarchy and extremes in selections from pools of randomized proteins. Proc Natl Acad Sci U S A. 2016;113:3482-7 pubmed publisher..e., the potential for future evolution). ..
- Belle R, Derancourt J, Poulhe R, Capony J, Ozon R, Mulner Lorillon O. A purified complex from Xenopus oocytes contains a p47 protein, an in vivo substrate of MPF, and a p30 protein respectively homologous to elongation factors EF-1 gamma and EF-1 beta. FEBS Lett. 1989;255:101-4 pubmed..From polypeptide sequencing, we now show that the p30 and the p47 correspond to elongation factor EF-1 beta and EF-1 gamma. Furthermore, the p30 and p36 proteins were phosphorylated in vitro by casein kinase II. ..
- Shi D, Goisset C, Boucaut J. Expression of Xfz3, a Xenopus frizzled family member, is restricted to the early nervous system. Mech Dev. 1998;70:35-47 pubmed..Our expression data and functional analyses suggest that the Xfz3 gene product has an antagonizing activity in the morphogenesis during Xenopus development. ..
- Ghee M, Fournier A, Mallet J. Rat alpha-synuclein interacts with Tat binding protein 1, a component of the 26S proteasomal complex. J Neurochem. 2000;75:2221-4 pubmed
- Sarzi E, Brown M, Lebon S, Chretien D, Munnich A, Rotig A, et al. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A. 2007;143A:33-41 pubmed..These results show that the 10197G>A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for LS and dystonia...
- Borck G, Zarhrate M, Bonnefont J, Munnich A, Cormier Daire V, Colleaux L. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat. 2007;28:205-6 pubmed..If confirmed, these data may have important implications for directing mutation screening in CdLS...
- Mougou Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat. 2009;30:1574-82 pubmed publisher..Therefore, and in accordance with the data reported regarding RPGRIP1L, our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS. ..
- Jullien Flores V, Dorseuil O, Romero F, Letourneur F, Saragosti S, Berger R, et al. Bridging Ral GTPase to Rho pathways. RLIP76, a Ral effector with CDC42/Rac GTPase-activating protein activity. J Biol Chem. 1995;270:22473-7 pubmed..We propose that these pathways are linked through a cascade composed of Ras --> Ra1GDS --> Ra1 --> RLIP76 --> CDC42/Rac1/Rho, allowing modulation of the Rho pathway by the Ras pathway...
- Laabi Y, Gras M, Brouet J, Berger R, Larsen C, Tsapis A. The BCMA gene, preferentially expressed during B lymphoid maturation, is bidirectionally transcribed. Nucleic Acids Res. 1994;22:1147-54 pubmed..RNase protection assays demonstrated the simultaneous expression of natural sense and antisense-BCMA transcripts in the majority of human B-cell lines tested. ..
- Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997;15:157-64 pubmed..In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches. ..
- Bruneau S, Mourrain P, Rosa F. Expression of contact, a new zebrafish DVR member, marks mesenchymal cell lineages in the developing pectoral fins and head and is regulated by retinoic acid. Mech Dev. 1997;65:163-73 pubmed
- Shi D, Boucaut J. Xenopus frizzled 4 is a maternal mRNA and its zygotic expression is localized to the neuroectoderm and trunk lateral plate mesoderm. Mech Dev. 2000;94:243-5 pubmed..As development proceeds, expression of Xfz4 mRNA in the trunk lateral plate mesoderm decreases but persists in the forebrain. It is also expressed in the posterior unsegmented somitic mesoderm from late tail-bud stage onward. ..
- Gordien E, Rosmorduc O, Peltekian C, Garreau F, Brechot C, Kremsdorf D. Inhibition of hepatitis B virus replication by the interferon-inducible MxA protein. J Virol. 2001;75:2684-91 pubmed..Our results show an antiviral effect of MxA protein on a DNA virus for the first time. MxA protein acts, at least in part, by inhibiting the nucleocytoplasmic export of viral mRNA via the PRE sequence. ..
- Dode C, Hazenberg B, Pecheux C, Cattan D, Moulin B, Barthélémy A, et al. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant. 2002;17:1212-7 pubmed..The characterization of mutations in MEFV and TNFRSF1A is important for the therapeutic behaviour of AA amyloidosis associated with inherited recurrent fever. ..
- Imamura T, Kerjean A, Heams T, Kupiec J, Thenevin C, Paldi A. Dynamic CpG and non-CpG methylation of the Peg1/Mest gene in the mouse oocyte and preimplantation embryo. J Biol Chem. 2005;280:20171-5 pubmed..These observations suggest that the process of establishment of the methylation imprint at this locus is more dynamic than previously thought. ..
- Hervé F, Ghinea N, Scherrmann J. CNS delivery via adsorptive transcytosis. AAPS J. 2008;10:455-72 pubmed publisher..The review concludes by stressing the need to improve the understanding of AMT mechanisms at BBB and the effectiveness of cationized proteins and CPP-vectorized proteins as neurotherapeutics. ..
- Chabrol E, Navarro V, Provenzano G, Cohen I, Dinocourt C, Rivaud Pechoux S, et al. Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice. Brain. 2010;133:2749-62 pubmed publisher..We conclude that LGI1(+/-) and LGI1(-/-) mice may provide useful models for lateral temporal lobe epilepsy, and more generally idiopathic focal epilepsy. ..
- Azioune A, Carpi N, Tseng Q, Thery M, Piel M. Protein micropatterns: A direct printing protocol using deep UVs. Methods Cell Biol. 2010;97:133-46 pubmed publisher..The last part describes cell deposition on the micropatterned substrate. We also provide a discussion with pitfalls and alternative techniques adapted to various substrates, including silicone elastomers. ..
- Melanitou E, Simon Chazottes D, Guenet J, Rougeon F. The gene coding for the kidney androgen-regulated protein (Kap), maps between the Gapd and Kras-2 genes on mouse chromosome 6. Mamm Genome. 1991;1:191-2 pubmed
- Lopez Garcia M, Dansette P, Valadon P, Amar C, Beaune P, Guengerich F, et al. Human-liver cytochromes P-450 expressed in yeast as tools for reactive-metabolite formation studies. Oxidative activation of tienilic acid by cytochromes P-450 2C9 and 2C10. Eur J Biochem. 1993;213:223-32 pubmed
- Kerszberg M, Changeux J. A simple molecular model of neurulation. Bioessays. 1998;20:758-70 pubmed..Little is known experimentally about the concerned pathways: their importance as a fruitful area for future investigation is emphasized by our theoretical results. ..
- Liu L, Janvier K, Berteaux Lecellier V, Cartier N, Benarous R, Aubourg P. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. J Biol Chem. 1999;274:32738-43 pubmed..These results provide the first evidence of both homo- and heterodimerization of mammalian ABC half-transporters and suggest that the loss of ALDP dimerization plays a role in X-ALD pathogenesis...
- Delespine Carmagnat M, Bouvier G, Bertoglio J. Association of STAT1, STAT3 and STAT5 proteins with the IL-2 receptor involves different subdomains of the IL-2 receptor beta chain. Eur J Immunol. 2000;30:59-68 pubmed..Thus, the IL-2R recruits STAT proteins through different modes of interaction. ..
- Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016;98:500-513 pubmed publisher..This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. ..
- Simmler M, Cunningham D, Clerc P, Vermat T, Caudron B, Cruaud C, et al. A 94 kb genomic sequence 3' to the murine Xist gene reveals an AT rich region containing a new testis specific gene Tsx. Hum Mol Genet. 1996;5:1713-26 pubmed..The mouse and rat Tsx sequences are highly divergent, suggesting that part of the X inactivation centre, including both Xist and Tsx are subject to relatively weak evolutionary constraints. ..
- Clement K. Leptin and the genetics of obesity. Acta Paediatr Suppl. 1999;88:51-7 pubmed..This review focuses on the recent molecular findings that have indicated a putative role for the leptin axis in human obesity. ..
- Dode C, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, et al. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Am J Med Genet. 2000;92:241-6 pubmed..Two new mis-sense mutations were identified in exon 10 of the MEFV gene: the S675N in an Italian patient and the M680L in a French patient without any known at-risk ethnic ancestry. ..
- de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman J, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001;29:57-60 pubmed..Complementation study in yeast confirmed the deleterious effect of these mutations. Mutation of BCS1L would seem to be a frequent cause of CIII deficiency, as one-third of our patients have BCS1L mutations. ..
- Joutel A, Monet M, Domenga V, Riant F, Tournier Lasserve E. Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway. Am J Hum Genet. 2004;74:338-47 pubmed..We conclude that mutations in Notch3 differently affect Jagged1 binding and Notch3 signaling via the RBP/JK pathway. ..
- Durand P, Labarre L, Meil A, Divo J, Vandenbrouck Y, Viari A, et al. GenoLink: a graph-based querying and browsing system for investigating the function of genes and proteins. BMC Bioinformatics. 2006;7:21 pubmed..Both distributions are free for academic research and teaching purposes and can be requested at email@example.com. A commercial licence form can be obtained for profit company at firstname.lastname@example.org. See also http://www.genostar.org. ..
- Jacob L, Vert J. Protein-ligand interaction prediction: an improved chemogenomics approach. Bioinformatics. 2008;24:2149-56 pubmed publisher..All data and algorithms are available as Supplementary Material. ..
- Regad L, Martin J, Nuel G, Camproux A. Mining protein loops using a structural alphabet and statistical exceptionality. BMC Bioinformatics. 2010;11:75 pubmed publisher..This finding helps to better describe protein loops and might permit to decrease the complexity of long-loop analysis. Detailed results are available at http://www.mti.univ-paris-diderot.fr/publication/supplementary/2009/ACCLoop/. ..
- Dupont N, Leroy C, Hamai A, Codogno P. Long-Lived Protein Degradation During Autophagy. Methods Enzymol. 2017;588:31-40 pubmed publisher..Here, we report a method to measure the lysosomal degradation of long-lived proteins along the autophagic pathway. ..
- Demczuk S, Thomas G, Aurias A. Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. Hum Mol Genet. 1996;5:633-8 pubmed
- Liu L, Margottin F, Le Gall S, Schwartz O, Selig L, Benarous R, et al. Binding of HIV-1 Nef to a novel thioesterase enzyme correlates with Nef-mediated CD4 down-regulation. J Biol Chem. 1997;272:13779-85 pubmed..These observations suggest that this human thioesterase is a cellular mediator of Nef-induced CD4 down-regulation. ..
- Gu W, Abbas N, Lagunes M, Parent A, Pradier L, Bohme G, et al. Cloning of rat parkin cDNA and distribution of parkin in rat brain. J Neurochem. 2000;74:1773-6 pubmed..Thus, the role of parkin may be much more global than previously thought on the basis of genetic findings gathered in cases of early-onset parkinsonism. ..
- Rachidi M, Lopes C, Gassanova S, Sinet P, Vekemans M, Attie T, et al. Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development. Mech Dev. 2000;93:189-93 pubmed..Some regions of the nervous system such as the external cortical layers of the brain, and the inner neuroblastic layer of the eye, strongly express the TPRD gene. ..
- Dubern B, Clement K, Pelloux V, Froguel P, Girardet J, Guy Grand B, et al. Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. J Pediatr. 2001;139:204-9 pubmed..MC4R mutations may be a non-negligible cause of severe obesity in children with variable expression and penetrance. Mutations in AGRP and alpha MSH genes were not among the causes of obesity in our population. ..
- Vanhoutteghem A, Djian P. Basonuclin 2: an extremely conserved homolog of the zinc finger protein basonuclin. Proc Natl Acad Sci U S A. 2004;101:3468-73 pubmed..The extreme conservation of the basonuclin 2 amino acid sequence across vertebrates suggests that basonuclin 2 serves an important function, presumably as a regulatory protein of DNA transcription. ..
- Roubergue A, Apartis E, Vidailhet M, Mignot C, Tullio Pelet A, Lyonnet S, et al. Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. Mov Disord. 2004;19:344-6 pubmed..These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome. ..
- Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier Daire V, El Ghouzzi V. Recent advances in Dyggve-Melchior-Clausen syndrome. Mol Genet Metab. 2004;83:51-9 pubmed..The present review focuses on clinical, radiological, and cellular features and evolution of DMC/SMC syndromes and discusses them with regard to identified Dym mutations and possible roles of the Dym gene product...
- Lieu H, Simon M, Nguyen Khoa T, Kebede M, Cortes A, Tebar L, et al. Reg2 inactivation increases sensitivity to Fas hepatotoxicity and delays liver regeneration post-hepatectomy in mice. Hepatology. 2006;44:1452-64 pubmed..Reg2/HIP/PAP is therefore a critical mitogenic and antiapoptotic factor for the liver. ..
- Deschavanne P, Tuffery P. Enhanced protein fold recognition using a structural alphabet. Proteins. 2009;76:129-37 pubmed publisher..Corresponding scores at the class level are of 92% and 90% indicating that mispredictions are mostly within structural classes. ..
- Baussand J, Carbone A. A combinatorial approach to detect coevolved amino acid networks in protein families of variable divergence. PLoS Comput Biol. 2009;5:e1000488 pubmed publisher..We apply the method to four protein families where we show an accurate detection of functional networks and the possibility to treat sets of protein sequences of variable divergence. ..
- Blanche H, Wright L, Vergnaud G, de Gouyon B, Lauthier V, Silver L, et al. Genetic mapping of three human homologues of murine t-complex genes localizes TCP10 to 6q27, 15 cM distal to TCP1 and PLG. Genomics. 1992;12:826-8 pubmed..It is likely that the organization of human t-complex homologues on 6q is similar to that of t haplotypes rather than that of wildtype murine chromosome 17. ..
- Muriel M, Bonaventure J, Stanescu R, Maroteaux P, Guenet J, Stanescu V. Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility. Bone. 1991;12:241-8 pubmed..The fro/fro mouse may represent a model for some forms of human bone fragility without collagen abnormalities...
- Levy Favatier F, Cuisset L, Nedelec B, Tichonicky L, Kruh J, Delpech M. Characterization, purification and cDNA cloning of a rat perchloric-acid-soluble 23-kDa protein present only in liver and kidney. Eur J Biochem. 1993;212:665-73 pubmed..Zoo-blot analysis at medium stringency strongly suggests that the gene has been conserved during evolution. The amino-acid sequence of this protein with a highly conserved region is similar to that of a heat-shock protein. ..
- Vallet V, Casado M, Henrion A, Bucchini D, Raymondjean M, Kahn A, et al. Differential roles of upstream stimulatory factors 1 and 2 in the transcriptional response of liver genes to glucose. J Biol Chem. 1998;273:20175-9 pubmed..Furthermore, they support the view that USF2 is the functional transactivator of the glucose-responsive complex. ..
- Tassin J, Durr A, Bonnet A, Gil R, Vidailhet M, Lücking C, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain. 2000;123 ( Pt 6):1112-21 pubmed..No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia. ..
- Delhomme B, Djian P. Expansion of mouse involucrin by intra-allelic repeat addition. Gene. 2000;252:195-207 pubmed..Expansion of the segment of repeats of the gene for mouse involucrin must result from an intra-allelic process controlled by a cis-acting element, active in one class of alleles, and inactive in the other. ..
- Veitia R, Hurst L. Accelerated molecular evolution of insect orthologues of ERG28/C14orf1: a link with ecdysteroid metabolism?. J Genet. 2001;80:17-21 pubmed..Discontinuation of the cholesterogenesis pathway in insects allowed the protein to evolve as much as the function in the other pathway was not compromised. ..
- Vinci G, Anjot M, Trivin C, Lottmann H, Brauner R, McElreavey K. An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. J Clin Endocrinol Metab. 2004;89:6282-5 pubmed..The recurrent T222P mutation in the LGR8 gene was not found in any of the patients. These data show for the first time a lack of association between genetic factors necessary for correct testicular descent and anorchia. ..
- le Maire A, Weber T, Saunier S, Broutin I, Antignac C, Ducruix A, et al. Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. Proteins. 2005;59:347-55 pubmed..Similar effects are also observed with the L180A variant. This could be a context-dependent effect resulting from an interaction between neighboring charged side-chains. ..
- Lavollay M, Arthur M, Fourgeaud M, Dubost L, Marie A, Riegel P, et al. The beta-lactam-sensitive D,D-carboxypeptidase activity of Pbp4 controls the L,D and D,D transpeptidation pathways in Corynebacterium jeikeium. Mol Microbiol. 2009;74:650-61 pubmed publisher..Acquisition and mutational alterations of pbp2C accounted for high-level beta-lactam resistance in C. jeikeium...
- Allanore Y, Saad M, Dieude P, Avouac J, Distler J, Amouyel P, et al. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet. 2011;7:e1002091 pubmed publisher..The genetic signal of association with TNIP1 variants, together with tissular and cellular investigations, suggests that this pathway has a critical role in regulating autoimmunity and SSc pathogenesis. ..