Genomes and Genes
Experts and Doctors on dna in Paris, Île de France, France
Locale: Paris, Île de France, France
Publications145 found, 100 shown here
- Duband Goulet I, Courvalin J. Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker. Biochemistry. 2000;39:6483-8 pubmed
- Pourcel C, Jaubert J, Hadchouel M, Wu X, Schweizer J. A new family of genes and pseudogenes potentially expressing testis- and brain-specific leucine zipper proteins in man and mouse. Gene. 2000;249:105-13 pubmed..Interestingly, although the human pseudogene is highly mutated in human, in the mouse it has only four nucleotide changes compared with the cDNA of origin, and is still capable of encoding a protein. ..
- Mills M, Arimondo P, Lacroix L, Garestier T, Klump H, Mergny J. Chemical modification of the third strand: differential effects on purine and pyrimidine triple helix formation. Biochemistry. 2002;41:357-66 pubmed..This purine-to-pyrimidine triplex conversion depends on the chemical nature of the triplex-forming strands and the stability of the corresponding triplexes. ..
- Escalier D, Silvius D, Xu X. Spermatogenesis of mice lacking CK2alpha': failure of germ cell survival and characteristic modifications of the spermatid nucleus. Mol Reprod Dev. 2003;66:190-201 pubmed
- Magné S, Caron S, Charon M, Rouyez M, Dusanter Fourt I. STAT5 and Oct-1 form a stable complex that modulates cyclin D1 expression. Mol Cell Biol. 2003;23:8934-45 pubmed..Our data offer new insights into the transcriptional regulation of the key cell cycle regulator cyclin D1 and emphasize the active roles of both STAT5 and Oct-1 in this process. ..
- Delva L, Gallais I, Guillouf C, Denis N, Orvain C, Moreau Gachelin F. Multiple functional domains of the oncoproteins Spi-1/PU.1 and TLS are involved in their opposite splicing effects in erythroleukemic cells. Oncogene. 2004;23:4389-99 pubmed..Finally, we demonstrate that in leukemic proerythroblasts overexpressing Spi-1, TLS has lost its splicing effect. Thus, we hypothesize that oncogenic pathways in proerythroblasts may involve the ability of Spi-1 to alter splicing. ..
- Puel A, Reichenbach J, Bustamante J, Ku C, Feinberg J, Doffinger R, et al. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet. 2006;78:691-701 pubmed..The residual production of an NH(2)-truncated NEMO protein was sufficient for normal fetal development and for the subsequent normal development of skin appendages but was insufficient for the development of protective immune responses. ..
- Agrawala P, Eschenbrenner A, du Penhoat M, Boissiere A, Politis M, Touati A, et al. Induction and repairability of DNA damage caused by ultrasoft X-rays: role of core events. Int J Radiat Biol. 2008;84:1093-103 pubmed publisher..It is demonstrated that ultrasoft X-rays induce complex damage, which do not exhibit the same ability to be repaired, depending on the energy and on DNA packing. ..
- Heddi B, Abi Ghanem J, Lavigne M, Hartmann B. Sequence-dependent DNA flexibility mediates DNase I cleavage. J Mol Biol. 2010;395:123-33 pubmed publisher..In sum, this work demonstrates that specificity in DNA-DNase I interaction is mediated by DNA flexibility, which influences the induced-fit transitions required to form productive complexes. ..
- Champion C, Guianvarc h D, Senamaud Beaufort C, Jurkowska R, Jeltsch A, Ponger L, et al. Mechanistic insights on the inhibition of c5 DNA methyltransferases by zebularine. PLoS ONE. 2010;5:e12388 pubmed publisher..We confirm that zebularine exerts its demethylation activity by stabilizing the binding of DNMTs to DNA, hindering the methylation and decreasing the dissociation, thereby trapping the enzyme and preventing turnover even at other sites. ..
- Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier Lasserve E. De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. Neurology. 2010;75:967-72 pubmed publisher..Molecular analysis can be helpful in those cases. Our study identified 14 novel de novo mutations that will help to interpret genetic tests in molecular diagnosis practice. ..
- Boutant M, Ramos O, Lecoeur C, Vaillant E, Philippe J, Zhang P, et al. Glucose-dependent regulation of NR2F2 promoter and influence of SNP-rs3743462 on whole body insulin sensitivity. PLoS ONE. 2012;7:e35810 pubmed publisher..The rs3743462 polymorphism affects glucose-responsive NR2F2 promoter regulation and thereby may influence whole-body insulin sensitivity, suggesting a role of NR2F2 in the control of glucose homeostasis in humans. ..
- Taly V, Pekin D, Benhaim L, Kotsopoulos S, Le Corre D, Li X, et al. Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients. Clin Chem. 2013;59:1722-31 pubmed publisher..This work demonstrates the clinical utility of multiplex dPCR to screen for multiple mutations simultaneously with a sensitivity sufficient to detect mutations in circulating DNA obtained by noninvasive blood collection. ..
- Cormier P, Osborne H, Bassez T, Poulhe R, Belle R, Mulner Lorillon O. Protein phosphatase 2A from Xenopus oocytes. Characterization during meiotic cell division. FEBS Lett. 1991;295:185-8 pubmed..Prophase- and metaphase-arrested oocytes contained identical amounts of PP2AC. Metaphase oocytes showed one specific change in the 62 kDa protein associated with PP2AC. ..
- Soubrier F, Alhenc Gelas F, Hubert C, Allegrini J, John M, Tregear G, et al. Two putative active centers in human angiotensin I-converting enzyme revealed by molecular cloning. Proc Natl Acad Sci U S A. 1988;85:9386-90 pubmed..Whereas the ACE gene is transcribed as a 4.3-kilobase mRNA in vascular endothelial cells, a 3.0-kilobase transcript was detected in the testis, where a shorter form of ACE is synthesized. ..
- Legouis R, Cohen Salmon M, del Castillo I, Levilliers J, Capy L, Mornow J, et al. Characterization of the chicken and quail homologues of the human gene responsible for the X-linked Kallmann syndrome. Genomics. 1993;17:516-8 pubmed..These results further support the hypothesis that the KAL protein is an extracellular matrix component with anti-protease and adhesion functions. ..
- Balandina A, Kamashev D, Rouviere Yaniv J. The bacterial histone-like protein HU specifically recognizes similar structures in all nucleic acids. DNA, RNA, and their hybrids. J Biol Chem. 2002;277:27622-8 pubmed
- Malabirade A, Jiang K, Kubiak K, Diaz Mendoza A, Liu F, van Kan J, et al. Compaction and condensation of DNA mediated by the C-terminal domain of Hfq. Nucleic Acids Res. 2017;45:7299-7308 pubmed publisher..The propensity for bridging and compaction of DNA by the C-terminal domain might be related to aggregation of bound protein and may have implications for protein binding related gene regulation. ..
- Cherif Zahar B, Bloy C, Le Van Kim C, Blanchard D, Bailly P, Hermand P, et al. Molecular cloning and protein structure of a human blood group Rh polypeptide. Proc Natl Acad Sci U S A. 1990;87:6243-7 pubmed..These results suggest that the expression of the Rh gene(s) might be restricted to tissues or cell lines expressing erythroid characters. ..
- Vignal A, London J, Rahuel C, Cartron J. Promoter sequence and chromosomal organization of the genes encoding glycophorins A, B and E. Gene. 1990;95:289-93 pubmed..On the basis of these studies, a model of the gene organization is proposed to explain the rearrangements occurring in the variants. ..
- Bentaboulet M, Mihaesco E, Gendron M, Brouet J, Tsapis A. Genomic alterations in a case of alpha heavy chain disease leading to the generation of composite exons from the JH region. Eur J Immunol. 1989;19:2093-8 pubmed..The genomic nucleotide sequence also revealed a large deletion in the switch CH1 region which eliminated normal splicing sites and resulted in splicing of the third exon directly to the CH2 exon. ..
- Le Van Kim C, Colin Y, Mitjavila M, Clerget M, Dubart A, Nakazawa M, et al. Structure of the promoter region and tissue specificity of the human glycophorin C gene. J Biol Chem. 1989;264:20407-14 pubmed
- Cohen Haguenauer O, Barton P, Van Cong N, Cohen A, Masset M, Buckingham M, et al. Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4). Hum Genet. 1989;81:278-82 pubmed..These data are in keeping with the localizations of the MLC1V gene to mouse chromosome 9, and of the MLC1A gene to mouse chromosome 11, which share some markers in common with human chromosomes 3 and 17 respectively. ..
- Pizon V, Lerosey I, Chardin P, Tavitian A. Nucleotide sequence of a human cDNA encoding a ras-related protein (rap1B). Nucleic Acids Res. 1988;16:7719 pubmed
- Weil D, Mattei M, Passage E, N Guyen V, Pribula Conway D, Mann K, et al. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet. 1988;42:435-45 pubmed..e., the alpha 1(III) and alpha 2(V) collagen genes, the elastin gene, and the fibronectin gene--have been previously mapped to the distal region of the long arm of chromosome 2. ..
- Normant E, Gros C, Schwartz J. Carboxypeptidase A isoforms produced by distinct genes or alternative splicing in brain and other extrapancreatic tissues. J Biol Chem. 1995;270:20543-9 pubmed..This apparent discrepancy seems attributable to the presence of an endogenous peptide inhibitor which remains to be identified. ..
- 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. ..
- Aurade F, Pinset C, Chafey P, Gros F, Montarras D. Myf5, MyoD, myogenin and MRF4 myogenic derivatives of the embryonic mesenchymal cell line C3H10T1/2 exhibit the same adult muscle phenotype. Differentiation. 1994;55:185-92 pubmed..abstract truncated at 250 words)..
- Ruat M, Traiffort E, Arrang J, Tardivel Lacombe J, Diaz J, Leurs R, et al. A novel rat serotonin (5-HT6) receptor: molecular cloning, localization and stimulation of cAMP accumulation. Biochem Biophys Res Commun. 1993;193:268-76 pubmed..When transiently expressed in transfected COS-7 cells the 5-HT6 receptor appears to be positively coupled to cyclic AMP production. ..
- Despr s P, Flamand M, Ceccaldi P, Deubel V. Human isolates of dengue type 1 virus induce apoptosis in mouse neuroblastoma cells. J Virol. 1996;70:4090-6 pubmed..Accumulation of viral proteins in the endoplasmic reticulum may induce stress and thereby activate the apoptotic pathway in mouse neuroblastoma cells...
- Kalatzis V, Cohen Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen E, et al. Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. Hum Mutat. 2002;20:439-46 pubmed..8%. Interestingly, the few undetectable mono- or bi-allelic mutations segregated mostly in the noninfantile forms, suggesting that these individuals carry mutations either in the introns or in unidentified regulatory sequences. ..
- Laurent C, Niehaus D, Bauché S, Levinson D, Soubigou S, Pimstone S, et al. CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2003;116B:45-50 pubmed..In conclusion, no significant evidence for linkage or association with SZ was observed for either polymorphism in this population. ..
- Heshmati F. Mechanisms of action of extracorporeal photochemotherapy. Transfus Apher Sci. 2003;29:61-70 pubmed..This immunostimulatory capacity of ECP is the most probable hypothesis of its mechanism but further investigations are necessary to determine the precise players important for this activity. ..
- David A, Bleimling N, Beuck C, Lehn J, Weinhold E, Teulade Fichou M. DNA mismatch-specific base flipping by a bisacridine macrocycle. Chembiochem. 2003;4:1326-31 pubmed..Thus, DNA base flipping does not appear to be limited to DNA-modifying enzymes but it is likely to also be induced by a small synthetic molecule binding to a thermodynamically weakened site in DNA. ..
- Dugast M, Toussaint H, Dousset C, Benaroch P. AP2 clathrin adaptor complex, but not AP1, controls the access of the major histocompatibility complex (MHC) class II to endosomes. J Biol Chem. 2005;280:19656-64 pubmed..Thus, in the cell systems studied here, rapid internalization of alphabetaIi complexes via an AP2-dependent pathway represents a key step for MHC II delivery to endosomes and lysosomes. ..
- Reynaud D, Ravet E, Titeux M, Mazurier F, Renia L, Dubart Kupperschmitt A, et al. SCL/TAL1 expression level regulates human hematopoietic stem cell self-renewal and engraftment. Blood. 2005;106:2318-28 pubmed..These results indicate that TAL1 expression level regulates immature human hematopoietic cell self-renewal and that this regulation requires TAL1 DNA-binding activity. ..
- Nakamae S, Cazayous M, Sacuto A, Monod P, Bouchiat H. Intrinsic low temperature paramagnetism in B-DNA. Phys Rev Lett. 2005;94:248102 pubmed..We propose orbital paramagnetism as the origin of the observed phenomena and discuss its relation to the existence of long range coherent transport in B-DNA at low temperature. ..
- Bollée G, Fakhouri F, Karras A, Noel L, Salomon R, Servais A, et al. Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. Nephrol Dial Transplant. 2006;21:2660-3 pubmed
- Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas Pequignot E, et al. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet. 2006;43:902-7 pubmed..Moreover, the mosaic distribution of epimutations suggests that imprinting is lost after fertilisation owing to a failure to maintain methylation marks during pre-implantation development. ..
- Moubarak R, Yuste V, Artus C, Bouharrour A, Greer P, Menissier de Murcia J, et al. Sequential activation of poly(ADP-ribose) polymerase 1, calpains, and Bax is essential in apoptosis-inducing factor-mediated programmed necrosis. Mol Cell Biol. 2007;27:4844-62 pubmed..Our data shed new light on the mechanisms regulating AIF-dependent necrosis and support the notion that, like apoptosis, necrosis could be a highly regulated cell death program. ..
- Miyamoto N, De Kozak Y, Normand N, Courtois Y, Jeanny J, BenEzra D, et al. PlGF-1 and VEGFR-1 pathway regulation of the external epithelial hemato-ocular barrier. A model for retinal edema. Ophthalmic Res. 2008;40:203-7 pubmed publisher..VEGF-E, that is a pure agonist of VEGFR-2, does not induce any acute effect on the RPE barrier. These results demonstrate that PlGF-1 can reproduce alterations of the RPE barrier occurring during diabetic retinopathy. ..
- Ahmed I, Tamouza R, Delord M, Krishnamoorthy R, Tzourio C, Mulot C, et al. Association between Parkinson's disease and the HLA-DRB1 locus. Mov Disord. 2012;27:1104-10 pubmed publisher..The highly polymorphic HLA-DRB1 locus contains rs660895, which represents a more legitimate candidate than previous ones. Our finding is in agreement with the hypothesis of an immune component in PD pathophysiology. ..
- Soria G, Almouzni G. Differential contribution of HP1 proteins to DNA end resection and homology-directed repair. Cell Cycle. 2013;12:422-9 pubmed publisher..Altogether, our findings provide mechanistic insight into how human HP1 proteins participate in the recombination process, emerging as important chromatin regulators during HDR. ..
- Cormier F, Monjanel H, Fabre C, Billot K, Sapharikas E, Chereau F, et al. Frequent engagement of RelB activation is critical for cell survival in multiple myeloma. PLoS ONE. 2013;8:e59127 pubmed publisher..Altogether, our study provides the framework for the development of new molecules targeting RelB in the treatment of MM. ..
- Chen X, Heck N, Lohof A, Rochefort C, Morel M, Wehrle R, et al. Mature Purkinje cells require the retinoic acid-related orphan receptor-? (ROR?) to maintain climbing fiber mono-innervation and other adult characteristics. J Neurosci. 2013;33:9546-62 pubmed publisher..Thus, the differentiation state of adult neurons is under the control of transcription factors; and in their absence, adult neurons lose their mature characteristics and acquire some characteristics of an earlier developmental stage. ..
- Roperch J, Incitti R, Forbin S, Bard F, Mansour H, Mesli F, et al. Aberrant methylation of NPY, PENK, and WIF1 as a promising marker for blood-based diagnosis of colorectal cancer. BMC Cancer. 2013;13:566 pubmed publisher..This panel of markers, if validated, can also be a cost effective screening tool for the detection of asymptomatic cancer patients for colonoscopy. ..
- El Ghouzzi V, Legeai Mallet L, Benoist Lasselin C, Lajeunie E, Renier D, Munnich A, et al. Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. FEBS Lett. 2001;492:112-8 pubmed
- Pellet P, Berger R, Bernheim A, Brouet J, Tsapis A. Molecular analysis of a t(9;14)(p11;q32) translocation occurring in a case of human alpha heavy chain disease. Oncogene. 1989;4:653-7 pubmed..Chromosome 9 fragments sequenced in the vicinity of the breakpoint did not share significant homology with sequences listed in GenBank and EMBL data bases. ..
- Le Roux I, Joliot A, Bloch Gallego E, Prochiantz A, Volovitch M. Neurotrophic activity of the Antennapedia homeodomain depends on its specific DNA-binding properties. Proc Natl Acad Sci U S A. 1993;90:9120-4 pubmed..We propose that homeoproteins might regulate important events in the morphological differentiation of the postmitotic neuron. ..
- Flavigny J, Richard P, Isnard R, Carrier L, Charron P, Bonne G, et al. Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J Mol Med (Berl). 1998;76:208-14 pubmed
- Marchant D, Gogat K, Boutboul S, Pequignot M, Sternberg C, Dureau P, et al. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mutat. 2001;17:235 pubmed..Five novel "silent" polymorphisms are also reported: 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C. Hum Mutat 17:235, 2001. ..
- Treangen T, Darling A, Achaz G, Ragan M, Messeguer X, Rocha E. A novel heuristic for local multiple alignment of interspersed DNA repeats. IEEE/ACM Trans Comput Biol Bioinform. 2009;6:180-9 pubmed publisher..The described methods have been implemented in freely available software, Repeatoire, available from: http://wwwabi.snv.jussieu.fr/public/Repeatoire. ..
- Feigenbaum V, Lombard Platet G, Guidoux S, Sarde C, Mandel J, Aubourg P. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am J Hum Genet. 1996;58:1135-44 pubmed
- 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. ..
- Manuel M, Rallu M, Loones M, Zimarino V, Mezger V, Morange M. Determination of the consensus binding sequence for the purified embryonic heat shock factor 2. Eur J Biochem. 2002;269:2527-37 pubmed..The consensus binding sequence for the embryonic HSF2 will be very helpful to identify new targets for this factor, during developmental and differentiation processes. ..
- Hung M, Avner P, Rogner U. Identification of the transcription factor ARNTL2 as a candidate gene for the type 1 diabetes locus Idd6. Hum Mol Genet. 2006;15:2732-42 pubmed..Our studies strongly suggest that the HIFbeta-homologous Arntl2 gene is involved in the control of type 1 diabetes. ..
- Quintero M, Riera H, Colantuoni G, Khatib A, Attalah H, Moldovan F, et al. Granulocyte-macrophage colony stimulating factor is anabolic and interleukin-1beta is catabolic for rat articular chondrocytes. Cytokine. 2008;44:366-72 pubmed publisher..It is postulated that both agents are implicated in inflammation: IL-1beta promotes tissue catabolism and destruction, whereas GM-CSF enhances tissue reconstruction. ..
- Reisberg S, Acevedo D, Korovitch A, Piro B, Noel V, Buchet I, et al. Design of a new electrogenerated polyquinone film substituted with glutathione. Towards direct electrochemical biosensors. Talanta. 2010;80:1318-25 pubmed publisher..The results were obtained with low target concentration (50nM) and the selectivity is excellent as a single-mismatch sequence can be discriminated from the full-complementary target. ..
- Guglielmi P, Davi F, d Auriol L, Bories J, Dausset J, Bensussan A. Use of a variable alpha region to create a functional T-cell receptor delta chain. Proc Natl Acad Sci U S A. 1988;85:5634-8 pubmed
- Saleh O, Allemand J, Croquette V, Bensimon D. Single-molecule manipulation measurements of DNA transport proteins. Chemphyschem. 2005;6:813-8 pubmed..Each of the experiments described represents a significant advance in the understanding of the mechanisms of DNA transport. ..
- Mine J, Disseau L, Takahashi M, Cappello G, Dutreix M, Viovy J. Real-time measurements of the nucleation, growth and dissociation of single Rad51-DNA nucleoprotein filaments. Nucleic Acids Res. 2007;35:7171-87 pubmed..This suggests that hRad51 does not depolymerize rapidly from dsDNA after strand exchange but stays bound to the heteroduplex, highlighting the importance of partner proteins to facilitate hRad51 depolymerization from dsDNA. ..
- Chassin D, Bellet D, Koman A. The human homolog of ribosomal protein S18. Nucleic Acids Res. 1993;21:745 pubmed
- santus R, Patterson L, Bazin M, Maziere J, Morliere P. Intra and intermolecular charge effects on the reaction of the superoxide radical anion with semi-oxidized tryptophan in peptides and N-acetyl tryptophan. Free Radic Res. 1998;29:409-19 pubmed
- Nandrot E, Slingsby C, Basak A, Cherif Chefchaouni M, Benazzouz B, Hajaji Y, et al. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet. 2003;40:262-7 pubmed..Furthermore, this is the first report of a mutation in this gene resulting in autosomal dominant congenital cerulean cataracts. ..
- Hamard P, Blondin C, Debbasch C, Warnet J, Baudouin C, Brignole F. In vitro effects of preserved and unpreserved antiglaucoma drugs on apoptotic marker expression by human trabecular cells. Graefes Arch Clin Exp Ophthalmol. 2003;241:1037-43 pubmed
- Hassan Zadeh V, Chilaka S, Cadoret J, Ma M, Boggetto N, West A, et al. USF binding sequences from the HS4 insulator element impose early replication timing on a vertebrate replicator. PLoS Biol. 2012;10:e1001277 pubmed publisher..Taken together, our data identify a combination of cis-elements that might constitute the basic unit of multi-replicon megabase-sized early domains of DNA replication. ..
- Rousseau Merck M, Zahraoui A, Bernheim A, Touchot N, Miglierina R, Tavitian A, et al. Chromosome mapping of the human ras-related rab3A gene to 19p13.2. Genomics. 1989;5:694-8 pubmed..Both techniques allowed the assignment of the rab3A gene to chromosome 19 with a regional localization on 19p13.2 obtained by in situ hybridization. ..
- Allan G, Tonner E, Barber M, Travers M, Shand J, Vernon R, et al. Growth hormone, acting in part through the insulin-like growth factor axis, rescues developmental, but not metabolic, activity in the mammary gland of mice expressing a single allele of the prolactin receptor. Endocrinology. 2002;143:4310-9 pubmed..This may be due to the maintenance by GH/IGF-I of a proliferative, rather than a differentiative, phenotype. ..
- Latasa M, Couton D, Charvet C, Lafanechère A, Guidotti J, Li Z, et al. Delayed liver regeneration in mice lacking liver serum response factor. Am J Physiol Gastrointest Liver Physiol. 2007;292:G996-G1001 pubmed..In conclusion, our work suggests that SRF is an early response transcription factor that may contribute to the initial phases of liver regeneration through its activation of IEGs. ..
- Benferhat R, Josse T, Albaud B, Gentien D, Mansuroglu Z, Marcato V, et al. Large-scale chromatin immunoprecipitation with promoter sequence microarray analysis of the interaction of the NSs protein of Rift Valley fever virus with regulatory DNA regions of the host genome. J Virol. 2012;86:11333-44 pubmed publisher
- Guitton M, Part D, Veron M. Cloning of a cDNA for the S-adenosyl-L-homocysteine hydrolase from Dictyostelium discoideum. Biochimie. 1988;70:835-40 pubmed..The significance of this strong conservation of AdoHcy hydrolase in the course of evolution is discussed. ..
- Perrin P, Morgeaux S. Inactivation of DNA by beta-propiolactone. Biologicals. 1995;23:207-11 pubmed..Moreover, it alters the capability of residual/contaminating cell DNA to be used as template by various polymerases. Thus, BPL reduces the risks associated with residual/contaminating cell DNA in biologicals. ..
- Jondeau G, Michel J, Boileau C. The translational science of Marfan syndrome. Heart. 2011;97:1206-14 pubmed publisher..Here we review some of the new data obtained in the understanding of the pathophysiology and genetics of this disease...
- Castanet M, Park S, Smith A, Bost M, Leger J, Lyonnet S, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet. 2002;11:2051-9 pubmed..Our observations support the role of TTF-2 in both thyroid and palate development but suggest phenotypic heterogeneity of this syndromic form of CH. ..
- Trochet D, Hong S, Lim J, Brunet J, Munnich A, Kim K, et al. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet. 2005;14:3697-708 pubmed..Such a tendency to protein misfolding could explain loss of transactivation for alanine expansion mutations. However, additional mechanisms such as toxic gain-of-function may play a role in the pathogenic process. ..
- Boulechfar S, Da Silva V, Deybach J, Nordmann Y, Grandchamp B, De Verneuil H. Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Hum Genet. 1992;88:320-4 pubmed..One mutation (C73R), however, appears to be more frequent than the others. Finally, the different normal and mutated proteins have been expressed in Escherichia coli to determine the consequence of the mutations on the enzyme activity. ..
- Urios P, Duprez D, Le Caer J, Courtois Y, Vigny M, Laurent M. Molecular cloning of RI-HB, a heparin binding protein regulated by retinoic acid. Biochem Biophys Res Commun. 1991;175:617-24 pubmed..Northern blot analysis indicates that RI-HB mRNA is strongly expressed during early chicken embryogenesis and that it is induced by retinoic acid treatment of chicken fibroblasts and myotubes in culture. ..
- Socie G, Gluckman E, Raynal B, Petit T, Landman J, Devergie A, et al. Bone marrow transplantation for Fanconi anemia using low-dose cyclophosphamide/thoracoabdominal irradiation as conditioning regimen: chimerism study by the polymerase chain reaction. Blood. 1993;82:2249-56 pubmed..In conclusion, lowering the Cy dose in the conditioning regimen of patients with FA could still allow complete engraftment to occur, at least in patients with an identical sibling donor. ..
- Hermand P, Le Pennec P, Rouger P, Cartron J, Bailly P. Characterization of the gene encoding the human LW blood group protein in LW+ and LW- phenotypes. Blood. 1996;87:2962-7 pubmed..No detectable abnormality of the LW gene or transcript could be detected in another LW(a- b-) individual (Nic), suggesting the heterogeneity of these phenotypes. ..
- Simmler M, Heard E, Rougeulle C, Cruaud C, Weissenbach J, Avner P. Localization and expression analysis of a novel conserved brain expressed transcript, Brx/BRX, lying within the Xic/XIC candidate region. Mamm Genome. 1997;8:760-6 pubmed..BRX is a new potential candidate for one of the X-linked mental retardation syndromes mapped within the pericentromeric region of the human X Chromosome (Chr). ..
- Taverna M, Sola A, Guyot Argenton C, Pacher N, Bruzzo F, Slama G, et al. Taq I polymorphism of the vitamin D receptor and risk of severe diabetic retinopathy. Diabetologia. 2002;45:436-42 pubmed
- Caillaud A, Prakash A, Smith E, Masumi A, Hovanessian A, Levy D, et al. Acetylation of interferon regulatory factor-7 by p300/CREB-binding protein (CBP)-associated factor (PCAF) impairs its DNA binding. J Biol Chem. 2002;277:49417-21 pubmed..Together, our results strongly suggest that acetylation of lysine 92 negatively modulates IRF7 DNA binding. ..
- Saleh O, Pérals C, Barre F, Allemand J. Fast, DNA-sequence independent translocation by FtsK in a single-molecule experiment. EMBO J. 2004;23:2430-9 pubmed..We conclude that in vivo polarization of FtsK translocation could require the presence of cofactors; alternatively, we propose a model in which tension in the DNA directs FtsK translocation. ..
- Martin M, Fargion S, Brissot P, Pellat B, Beaumont C. A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome. Blood. 1998;91:319-23 pubmed..Further studies will be necessary to elucidate the mechanism responsible for the onset of cataract. ..
- Roselli S, Heidet L, Sich M, Henger A, Kretzler M, Gubler M, et al. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol Cell Biol. 2004;24:550-60 pubmed
- Sevin C, Ferdinandusse S, Waterham H, Wanders R, Aubourg P. Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet J Rare Dis. 2011;6:8 pubmed publisher..To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA)...
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