Experts and Doctors on nuclear proteins in Paris, Île de France, France


Locale: Paris, Île de France, France
Topic: nuclear proteins

Top Publications

  1. Marechal V, Elenbaas B, Taneyhill L, Piette J, Mechali M, Nicolas J, et al. Conservation of structural domains and biochemical activities of the MDM2 protein from Xenopus laevis. Oncogene. 1997;14:1427-33 pubmed
    ..These data as well as the utilization of Xenopus laevis to investigate the roles of MDM2 and p53 during early embryogenesis are discussed. ..
  2. Pontoglio M. Hepatocyte nuclear factor 1, a transcription factor at the crossroads of glucose homeostasis. J Am Soc Nephrol. 2000;11 Suppl 16:S140-3 pubmed
    ..These data show that HNF1 is a major regulator of glucose homeostasis, regulating the expression of genes that are expressed in the liver, kidney, and pancreas. ..
  3. Pontoglio M, Prie D, Cheret C, Doyen A, Leroy C, Froguel P, et al. HNF1alpha controls renal glucose reabsorption in mouse and man. EMBO Rep. 2000;1:359-65 pubmed
    ..Our results show that HNF1alpha directly controls SGLT2 gene expression. Together these data indicate that HNF1alpha plays a key role in glucose homeostasis in mammals. ..
  4. Ewald J, Rodrigue C, Mourra N, Lefevre J, Flejou J, Tiret E, et al. Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer. Br J Surg. 2007;94:1020-7 pubmed
    ..MLH1-deficient patients who are young or have a positive family history of cancer should be referred for genetic testing and counselling, whereas MSH2-deficient patients should be counselled in the same way as patients with HNPCC. ..
  5. Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, et al. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. 2009;92:1347-50 pubmed publisher
    ..R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function...
  6. Samy M, Gattolliat C, Pendino F, Hillion J, Nguyen E, Bombard S, et al. Loss of the malignant phenotype of human neuroblastoma cells by a catalytically inactive dominant-negative hTERT mutant. Mol Cancer Ther. 2012;11:2384-93 pubmed publisher
    ..Therefore, our results envision new therapeutic strategies for metastatic neuroblastoma therapeutic management. ..
  7. Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi A, et al. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve. 2004;30:444-50 pubmed
  8. Krug P, Moriniere V, Marlin S, Koubi V, Gabriel H, Colin E, et al. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 2011;32:183-90 pubmed publisher
    ..We detected a deletion removing three EYA1 exons in a patient who was previously reported to carry the SIX5 Thr552Met mutation. This led us to reconsider the role of SIX5 in the development of BOR. ..
  9. Odore E, Lokiec F, Cvitkovic E, Bekradda M, Herait P, Bourdel F, et al. Phase I Population Pharmacokinetic Assessment of the Oral Bromodomain Inhibitor OTX015 in Patients with Haematologic Malignancies. Clin Pharmacokinet. 2016;55:397-405 pubmed publisher
    ..Population pharmacokinetic modelling of OTX015 plasma concentrations showed that LBM influences V and CL. These findings do not suggest the need for dose adjustment. ..

More Information

Publications319 found, 100 shown here

  1. Bach I, Yaniv M. More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. EMBO J. 1993;12:4229-42 pubmed
    ..Our studies show that the transactivation domain of the members of the HNF1 homeoprotein family is organized in modules which can be exchanged to generate either more potent transcriptional activators or a transdominant repressor. ..
  2. Geha S, Pallud J, Junier M, Devaux B, Leonard N, Chassoux F, et al. NG2+/Olig2+ cells are the major cycle-related cell population of the adult human normal brain. Brain Pathol. 2010;20:399-411 pubmed publisher
    ..These results provide evidence for a persistent gliogenesis in the human cortex and white matter that is enhanced in an epileptic environment. ..
  3. Coumailleau P, Penrad Mobayed M, Lecomte C, Bollerot K, Simon F, Poellinger L, et al. Characterization and developmental expression of xSim, a Xenopus bHLH/PAS gene related to the Drosophila neurogenic master gene single-minded. Mech Dev. 2000;99:163-6 pubmed
    ..As development proceeds, xSim is mainly restricted to the central nervous system. ..
  4. Belgareh N, Rabut G, Bai S, van Overbeek M, Beaudouin J, Daigle N, et al. An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells. J Cell Biol. 2001;154:1147-60 pubmed
  5. Coulet F, Nadaud S, Agrapart M, Soubrier F. Identification of hypoxia-response element in the human endothelial nitric-oxide synthase gene promoter. J Biol Chem. 2003;278:46230-40 pubmed
    ..In conclusion, we demonstrate that heNOS is a hypoxia-inducible gene, whose transcription is stimulated through HIF-2 interaction with two contiguous HRE sites located at -5375 to -5366 of the heNOS promoter. ..
  6. Randrianarison Huetz V, Laurent B, Bardet V, Blobe G, Huetz F, Dumenil D. Gfi-1B controls human erythroid and megakaryocytic differentiation by regulating TGF-beta signaling at the bipotent erythro-megakaryocytic progenitor stage. Blood. 2010;115:2784-95 pubmed publisher
  7. Teixeira M, Siniossoglou S, Podtelejnikov S, Benichou J, Mann M, Dujon B, et al. Two functionally distinct domains generated by in vivo cleavage of Nup145p: a novel biogenesis pathway for nucleoporins. EMBO J. 1997;16:5086-97 pubmed
    ..These data suggest that N- and C-domains of Nup145p perform independent functions, and that the in vivo cleavage observed is of functional importance. ..
  8. Callebaut I, Mornon J. The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis. Cell Mol Life Sci. 1998;54:880-91 pubmed
    ..Moreover, the presence of a plant homeodomain finger-like motif in the last quarter of the RAG2 sequence suggests a potential interaction of this domain with chromatin components. ..
  9. Moldes M, Boizard M, Liepvre X, Feve B, Dugail I, Pairault J. Functional antagonism between inhibitor of DNA binding (Id) and adipocyte determination and differentiation factor 1/sterol regulatory element-binding protein-1c (ADD1/SREBP-1c) trans-factors for the regulation of fatty acid synthase promoter in adip. Biochem J. 1999;344 Pt 3:873-80 pubmed
    ..Taken together, our data show that Id products are functionally involved in modulating ADD1/SREBP-1c transcriptional activity, and thus lipogenesis in adipocytes. ..
  10. Terret M, Wassmann K, Waizenegger I, Maro B, Peters J, Verlhac M. The meiosis I-to-meiosis II transition in mouse oocytes requires separase activity. Curr Biol. 2003;13:1797-802 pubmed
    ..We therefore investigated if Separase activity is required for correct chromosome segregation in meiosis I in mouse oocytes. ..
  11. Arango M, Holbert S, Zala D, Brouillet E, Pearson J, Regulier E, et al. CA150 expression delays striatal cell death in overexpression and knock-in conditions for mutant huntingtin neurotoxicity. J Neurosci. 2006;26:4649-59 pubmed
    ..Together, our data indicate that mutant htt may induce CA150 dysfunction in striatal neurons and suggest that the restoration of nuclear protein cooperativity may be neuroprotective. ..
  12. Rousselet A. Inhibiting Crm1 causes the formation of excess acentriolar spindle poles containing NuMA and B23, but does not affect centrosome numbers. Biol Cell. 2009;101:679-93 pubmed publisher
    ..B23 and NuMA are present at these poles that ultimately focus around the centrosome. Inhibition of Crm1 at metaphase has no effect on the control of centrosome numbers. ..
  13. Dahmane N, Charron G, Lopes C, Yaspo M, Maunoury C, Decorte L, et al. Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development. Proc Natl Acad Sci U S A. 1995;92:9191-5 pubmed
    ..The expression pattern of this gene suggests that it might be involved in the pathogenesis of some of the morphological features and brain anomalies observed in Down syndrome. ..
  14. Duprez E, Tong J, Derre J, Chen S, Berger R, Chen Z, et al. JEM-1, a novel gene encoding a leucine-zipper nuclear factor upregulated during retinoid-induced maturation of NB4 promyelocytic leukaemia. Oncogene. 1997;14:1563-70 pubmed
    ..We hypothesise that this novel nuclear factor may act as a transcription factor, or a coregulator, involved in either cell growth control and/or maturation. ..
  15. Sirri V, Roussel P, Hernandez Verdun D. The mitotically phosphorylated form of the transcription termination factor TTF-1 is associated with the repressed rDNA transcription machinery. J Cell Sci. 1999;112 ( Pt 19):3259-68 pubmed
    ..The reorganization of the mitotic rDNA promoter might be induced by phosphorylation of certain components of the rDNA transcription machinery and participate in silencing of rDNA during mitosis...
  16. Soussi T, Beroud C. Assessing TP53 status in human tumours to evaluate clinical outcome. Nat Rev Cancer. 2001;1:233-40 pubmed
    ..What simple steps can be taken to ensure that patients benefit from our understanding of TP53? ..
  17. Haumaitre C, Reber M, Cereghini S. Functions of HNF1 family members in differentiation of the visceral endoderm cell lineage. J Biol Chem. 2003;278:40933-42 pubmed
    ..Thus, in this context, HNF1 functionally replaces both vHNF1 isoforms, suggesting that the different developmental functions of these transcription factors are mainly due to the acquisition of novel expression patterns. ..
  18. Garcia M, Charvin D, Caboche J. Expanded huntingtin activates the c-Jun terminal kinase/c-Jun pathway prior to aggregate formation in striatal neurons in culture. Neuroscience. 2004;127:859-70 pubmed
    ..Thus our data suggest that c-Jun activation and induction, is an early event in the pathogenesis of HD, occurring prior to formation of nuclear aggregates of Exp-Htt. ..
  19. Madrid R, Gasteier J, Bouchet J, Schröder S, Geyer M, Benichou S, et al. Oligomerization of the diaphanous-related formin FHOD1 requires a coiled-coil motif critical for its cytoskeletal and transcriptional activities. FEBS Lett. 2005;579:441-8 pubmed
    ..Together, these results indicate that oligomerization of FHOD1 via the coiled-coil motif is a critical parameter for its biological activities. ..
  20. Dentin R, Benhamed F, Pégorier J, Foufelle F, Viollet B, Vaulont S, et al. Polyunsaturated fatty acids suppress glycolytic and lipogenic genes through the inhibition of ChREBP nuclear protein translocation. J Clin Invest. 2005;115:2843-54 pubmed
  21. Chaabane C, Corvazier E, Bredoux R, Dally S, Raies A, Villemain A, et al. Sarco/endoplasmic reticulum Ca2+ATPase type 3 isoforms (SERCA3b and SERCA3f): distinct roles in cell adhesion and ER stress. Biochem Biophys Res Commun. 2006;345:1377-85 pubmed
    ..This was associated with the activation of caspase cascade and a higher spontaneous cell death. In conclusion, these data point for the first time to distinct physiological roles of SERCA3 isoforms in cell functions. ..
  22. Legent K, Dutriaux A, Delanoue R, Silber J. Cell cycle genes regulate vestigial and scalloped to ensure normal proliferation in the wing disc of Drosophila melanogaster. Genes Cells. 2006;11:907-18 pubmed
    ..This points to a homeostatic feedback regulation between proliferation regulators and the VG-SD wing selector. ..
  23. Bricambert J, Miranda J, Benhamed F, Girard J, Postic C, Dentin R. Salt-inducible kinase 2 links transcriptional coactivator p300 phosphorylation to the prevention of ChREBP-dependent hepatic steatosis in mice. J Clin Invest. 2010;120:4316-31 pubmed publisher
  24. Rougeot J, Renard M, Randsholt N, Peronnet F, Mouchel Vielh E. The elongin complex antagonizes the chromatin factor Corto for vein versus intervein cell identity in Drosophila wings. PLoS ONE. 2013;8:e77592 pubmed publisher
    ..We propose that Corto and the Elongin complex participate together in vein vs intervein fate, possibly through tissue-specific transcriptional regulation of rhomboid. ..
  25. Santa Cecília F, Socias B, Ouidja M, Sepulveda Diaz J, Acuña L, Silva R, et al. Doxycycline Suppresses Microglial Activation by Inhibiting the p38 MAPK and NF-kB Signaling Pathways. Neurotox Res. 2016;29:447-59 pubmed publisher
    ..These results support the idea that doxycycline may be useful in preventing or slowing the progression of PD and other neurodegenerative diseases that exhibit altered glia function. ..
  26. Romero F, Germani A, Puvion E, Camonis J, Varin Blank N, Gisselbrecht S, et al. Vav binding to heterogeneous nuclear ribonucleoprotein (hnRNP) C. Evidence for Vav-hnRNP interactions in an RNA-dependent manner. J Biol Chem. 1998;273:5923-31 pubmed
    ..Furthermore, RNA homopolymers differentially alter the binding affinity of Vav to hnRNP C and hnRNP K. We propose that Vav-hnRNP interactions may be established in an RNA-dependent manner. ..
  27. Billuart P, Bienvenu T, Ronce N, Des Portes V, Vinet M, Zemni R, et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature. 1998;392:923-6 pubmed
    ..Such activation is known to affect cell migration and outgrowth of axons and dendrites in vivo. Our results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase. ..
  28. Van De Bor V, Delanoue R, Cossard R, Silber J. Truncated products of the vestigial proliferation gene induce apoptosis. Cell Death Differ. 1999;6:557-64 pubmed
    ..Our results shed new light on the function of the vg gene, in particular, they suggest that the normal and truncated products affect vg target genes in different ways. ..
  29. Grosfeld A, Andre J, Hauguel De Mouzon S, Berra E, Pouyssegur J, Guerre Millo M. Hypoxia-inducible factor 1 transactivates the human leptin gene promoter. J Biol Chem. 2002;277:42953-7 pubmed
    ..These data demonstrate that leptin is a new hypoxia-inducible gene, which is stimulated in a placental cell line through HIF-1 interaction with a consensus HRE site located at -116 in the proximal promoter. ..
  30. Delanoue R, Zider A, Cossard R, Dutriaux A, Silber J. Interaction between apterous and early expression of vestigial in formation of the dorso-ventral compartments in the Drosophila wing disc. Genes Cells. 2002;7:1255-66 pubmed
    ..Normal cell proliferation is necessary for ap expression at the level of the D/V boundary. This would be mediated by vg, which interacts in a dose-dependent way with ap. ..
  31. Dentin R, Benhamed F, Hainault I, Fauveau V, Foufelle F, Dyck J, et al. Liver-specific inhibition of ChREBP improves hepatic steatosis and insulin resistance in ob/ob mice. Diabetes. 2006;55:2159-70 pubmed
    ..Taken together, our results demonstrate that ChREBP is central for the regulation of lipogenesis in vivo and plays a determinant role in the development of the hepatic steatosis and of insulin resistance in ob/ob mice. ..
  32. Mochel F, Missirian C, Reynaud R, Moncla A. Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. Eur J Med Genet. 2008;51:68-73 pubmed publisher
    ..Therefore, our case argues against a major role of NLGN4X and the VCX genes alone in cognitive development and/or communication processes. ..
  33. Warcoin M, Lespinasse J, Despouy G, Dubois d Enghien C, Lauge A, Portnoi M, et al. Fertility defects revealing germline biallelic nonsense NBN mutations. Hum Mutat. 2009;30:424-30 pubmed publisher
    ..NBN mutations should thus be considered a new cause of infertility, and should be searched for if associated with the biological abnormalities of NBS. ..
  34. Borie C, Colas C, Dartigues P, Lazure T, Rince P, Buhard O, et al. The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasms. Int J Cancer. 2009;125:2360-6 pubmed publisher
    ..They give the exact way how to make the diagnosis of MSI in these tumors and may help to define biological and clinicalrisk factors associated with their emergence in such a clinicalcontext. ..
  35. Schleiermacher G, Mosseri V, London W, Maris J, Brodeur G, Attiyeh E, et al. Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project. Br J Cancer. 2012;107:1418-22 pubmed publisher
    ..A segmental genomic profile, rather than the single genetic markers, adds prognostic information to the clinical markers age and stage in neuroblastoma patients without MNA, underlining the importance of pangenomic studies. ..
  36. Alexandre M, Rivaud Pechoux S, Challe G, Durr A, Gaymard B. Functional consequences of oculomotor disorders in hereditary cerebellar ataxias. Cerebellum. 2013;12:396-405 pubmed publisher
    ..The discrepancy between objective and subjective measures underlines the largely unconscious aspect of saccade control and leads us to consider the need for an adapted therapy. ..
  37. Bureau J, Bihl F, Brahic M, Le Paslier D. The gene coding for interferon-gamma is linked to the D12S335 and D12S313 microsatellites and to the MDM2 gene. Genomics. 1995;28:109-12 pubmed
    ..Finally, we describe the organization of the Ifg, Myf-6, Mdm1, and Mdm2 loci on mouse chromosome 10, in a region syntenic to human chromosome band 12q15. ..
  38. Toure A, Dorseuil O, Morin L, Timmons P, Jegou B, Reibel L, et al. MgcRacGAP, a new human GTPase-activating protein for Rac and Cdc42 similar to Drosophila rotundRacGAP gene product, is expressed in male germ cells. J Biol Chem. 1998;273:6019-23 pubmed
    ..Since rotundRacGAP deletion leads to male sterility in the fruit fly, the mgcRacGAP gene may prove likewise to play a key role in mammalian male fertility. ..
  39. Prigent Y, Troalen F, Dadoune J. Immunoelectron microscopic visualization of intermediate basic proteins HPI1 and HPI2 in human spermatids and spermatozoa. Reprod Nutr Dev. 1998;38:417-27 pubmed
  40. Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane H, Recan D, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000;48:170-80 pubmed
  41. Cote F, Schussler N, Boularand S, Peirotes A, Thévenot E, Mallet J, et al. Involvement of NF-Y and Sp1 in basal and cAMP-stimulated transcriptional activation of the tryptophan hydroxylase (TPH ) gene in the pineal gland. J Neurochem. 2002;81:673-85 pubmed
    ..These factors participate in a novel pathway for the cAMP-mediated response of the TPH promoter, which is independent of the canonical CRE-mediated response. ..
  42. Rebouissou S, Rosty C, Lecuru F, Boisselier S, Bui H, Le Frere Belfa M, et al. Mutation of TCF1 encoding hepatocyte nuclear factor 1alpha in gynecological cancer. Oncogene. 2004;23:7588-92 pubmed
    ..These results suggest that HNF1alpha may contribute to endometrial carcinogenesis through complete HNF1alpha inactivation like in liver cell adenoma or by haploinsufficiency like in MSI-H colorectal cancer. ..
  43. Depaux A, Regnier Ricard F, Germani A, Varin Blank N. A crosstalk between hSiah2 and Pias E3-ligases modulates Pias-dependent activation. Oncogene. 2007;26:6665-76 pubmed
    ..This report describes a new interconnection between sumoylation and ubiquitination pathways by regulating the levels of the E3-ligases available for these processes. ..
  44. Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, et al. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?. Neurology. 2007;68:1883-94 pubmed
    ..This highlights the crucial role of lamin A/C-emerin interactions, with evidence for synergistic effects of these mutations that lead to Emery-Dreifuss muscular dystrophy as the worsened result of digenic mechanism in this family. ..
  45. Pérot G, Derré J, Coindre J, Tirode F, Lucchesi C, Mariani O, et al. Strong smooth muscle differentiation is dependent on myocardin gene amplification in most human retroperitoneal leiomyosarcomas. Cancer Res. 2009;69:2269-78 pubmed publisher
    ..These data also provide new insights on the cellular origin of these sarcomas and on the complex connections between oncogenesis and differentiation in mesenchymal tumors. ..
  46. Szuplewski S, Fraisse Véron I, George H, Terracol R. vrille is required to ensure tracheal integrity in Drosophila embryo. Dev Growth Differ. 2010;52:409-18 pubmed publisher
    ..Most of the defects were observed after stage 14 and affect all branches, resulting in branch breaks, abnormal branching and elongation. ..
  47. Dubuquoy C, Robichon C, Lasnier F, Langlois C, Dugail I, Foufelle F, et al. Distinct regulation of adiponutrin/PNPLA3 gene expression by the transcription factors ChREBP and SREBP1c in mouse and human hepatocytes. J Hepatol. 2011;55:145-53 pubmed publisher
    ..All together, our results suggest that adiponutrin/PNPLA3 is regulated by two key factors of the glycolytic and lipogenic pathways, raising the question of its implication in the metabolism of carbohydrates and lipids. ..
  48. Benhamed F, Denechaud P, Lemoine M, Robichon C, Moldes M, Bertrand Michel J, et al. The lipogenic transcription factor ChREBP dissociates hepatic steatosis from insulin resistance in mice and humans. J Clin Invest. 2012;122:2176-94 pubmed publisher
    ..Together, these results demonstrate that increased ChREBP can dissociate hepatic steatosis from insulin resistance, with beneficial effects on both glucose and lipid metabolism. ..
  49. Gras D, Jonard L, Roze E, Chantot Bastaraud S, Koht J, Motte J, et al. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry. 2012;83:956-62 pubmed publisher
    ..The aim of the study was to refine the movement disorders phenotype. We also studied disease course and response to therapy in a large series of genetically proven patients...
  50. Derossi D, Joliot A, Chassaing G, Prochiantz A. The third helix of the Antennapedia homeodomain translocates through biological membranes. J Biol Chem. 1994;269:10444-50 pubmed
    ..Finally, substitution of two tryptophans by two phenylalanines strongly diminishes translocation, raising the possibility that the internalization of the third helix is not solely based on its general hydrophobicity. ..
  51. Torchet C, Jacq C, Hermann Le Denmat S. Two mutant forms of the S1/TPR-containing protein Rrp5p affect the 18S rRNA synthesis in Saccharomyces cerevisiae. RNA. 1998;4:1636-52 pubmed
    ..Furthermore, we show that suppression by the Rok1p putative RNA helicase rescues the 18S rRNA synthesis defect caused by the rrp5delta6 mutation. ..
  52. Launay P, Grossetête B, Arcos Fajardo M, Gaudin E, Torres S, Beaudoin L, et al. Fcalpha receptor (CD89) mediates the development of immunoglobulin A (IgA) nephropathy (Berger's disease). Evidence for pathogenic soluble receptor-Iga complexes in patients and CD89 transgenic mice. J Exp Med. 2000;191:1999-2009 pubmed
    ..Depletion of soluble CD89 from serum abolished this effect. These results reveal the key role of soluble CD89 in the pathogenesis of IgAN and provide an in vivo model that will be useful for developing new treatments. ..
  53. Drutel G, Kathmann M, Heron A, Gros C, Mace S, Schwartz J, et al. Two splice variants of the hypoxia-inducible factor HIF-1alpha as potential dimerization partners of ARNT2 in neurons. Eur J Neurosci. 2000;12:3701-8 pubmed
  54. Trueba S, Auge J, Mattei G, Etchevers H, Martinovic J, Czernichow P, et al. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab. 2005;90:455-62 pubmed
    ..In conclusion, the expression patterns described here show some differences from those reported in the mouse. They explain the malformations associated with TD in patients carrying PAX8, TITF1, and FOXE1 gene mutations. ..
  55. Coppo P, Clauvel J, Bengoufa D, Fuentes V, Gouilleux Gruart V, Courvalin J, et al. Autoimmune cytopenias associated with autoantibodies to nuclear envelope polypeptides. Am J Hematol. 2004;77:241-9 pubmed
    ..Their detection strongly suggests an autoimmune process. Such cytopenias are often manifestations of a lupus or lupus-like disease and are responsive to steroids. ..
  56. Revy P, Buck D, Le Deist F, de Villartay J. The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. Adv Immunol. 2005;87:237-95 pubmed
  57. Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, et al. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology. 2005;65:1364-9 pubmed
  58. Fasseu M, Aplan P, Chopin M, Boissel N, Bories J, Soulier J, et al. p16INK4A tumor suppressor gene expression and CD3epsilon deficiency but not pre-TCR deficiency inhibit TAL1-linked T-lineage leukemogenesis. Blood. 2007;110:2610-9 pubmed
    ..We also show that the CD3epsilon-mediated signal transduction pathway is essential for this transformation process, since the TAL1xLMO1xCD3epsilon-deficient mice do not develop T-ALL for up to 1 year. ..
  59. Charvin D, Roze E, Perrin V, Deyts C, Betuing S, Pages C, et al. Haloperidol protects striatal neurons from dysfunction induced by mutated huntingtin in vivo. Neurobiol Dis. 2008;29:22-9 pubmed
    ..These findings indicate that D2 receptors activation contributes to the deleterious effects of expHtt on striatal function and may represent an interesting early target to alter the subsequent course of neuropathology in HD. ..
  60. González Aguilar A, Idbaih A, Boisselier B, Habbita N, Rossetto M, Laurenge A, et al. Recurrent mutations of MYD88 and TBL1XR1 in primary central nervous system lymphomas. Clin Cancer Res. 2012;18:5203-11 pubmed publisher
  61. Chettouh H, Fartoux L, Aoudjehane L, Wendum D, Clapéron A, Chretien Y, et al. Mitogenic insulin receptor-A is overexpressed in human hepatocellular carcinoma due to EGFR-mediated dysregulation of RNA splicing factors. Cancer Res. 2013;73:3974-86 pubmed publisher
    ..Increased expression of IR-A during neoplastic transformation of hepatocytes could mediate some of the adverse effects of hyperinsulinemia on HCC. ..
  62. Vallet V, Henrion A, Bucchini D, Casado M, Raymondjean M, Kahn A, et al. Glucose-dependent liver gene expression in upstream stimulatory factor 2 -/- mice. J Biol Chem. 1997;272:21944-9 pubmed
    ..In this paper, we provide the first evidence that USF2 proteins are required in vivo for a normal transcriptional response of L-type pyruvate kinase and Spot 14 genes to glucose in the liver. ..
  63. Bluteau O, Jeannot E, Bioulac Sage P, Marqués J, Blanc J, Bui H, et al. Bi-allelic inactivation of TCF1 in hepatic adenomas. Nat Genet. 2002;32:312-5 pubmed
    ..These results indicate that inactivation of TCF1, whether sporadic or associated with MODY3, is an important genetic event in the occurrence of human liver adenoma, and may be an early step in the development of some HCCs. ..
  64. Zanni G, Van Esch H, Bensalem A, Saillour Y, Poirier K, Castelnau L, et al. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics. 2010;11:251-5 pubmed publisher
  65. Lefevre J, Colas C, Coulet F, Bonilla C, Mourra N, Flejou J, et al. MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions. Fam Cancer. 2010;9:589-94 pubmed publisher
    ..588 + 5G > T) leading to a complete deletion of exon 7 at the RNA level. This observation demonstrates that MLH1 can be a target of MYH transversions leading to MSI phenotype...
  66. Theocharis S, Klijanienko J, Giaginis C, Rodriguez J, Jouffroy T, Girod A, et al. Expression of DNA repair proteins, MSH2, MLH1 and MGMT in mobile tongue squamous cell carcinoma: associations with clinicopathological parameters and patients' survival. J Oral Pathol Med. 2011;40:218-26 pubmed publisher
    ..0451). The present study supported evidence for possible implication of MSH2, MLH1 and MGMT proteins in the formation and progression of mobile tongue SCC. ..
  67. Geoffroy M, Chelbi Alix M. Role of promyelocytic leukemia protein in host antiviral defense. J Interferon Cytokine Res. 2011;31:145-58 pubmed publisher
    ..This review will focus on the regulation of PML and the implication of PML NBs in conferring resistance to DNA and RNA viruses. The role of PML in mediating an IFN-induced antiviral state will also be discussed. ..
  68. Soares D, Battistella A, Rocca C, Matuo R, Henriques J, Larsen A, et al. Ataxia telangiectasia mutated- and Rad3-related kinase drives both the early and the late DNA-damage response to the monofunctional antitumour alkylator S23906. Biochem J. 2011;437:63-73 pubmed publisher
    ..These findings identify ATR as a central co-ordinator of the DNA-damage response to S23906, and provide a mechanistic rationale for combinations of S23906 and similar agents with checkpoint abrogators. ..
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