Genomes and Genes
Experts and Doctors on mutation in Paris, Île de France, France
Locale: Paris, Île de France, France
Publications1011 found, 100 shown here
- Monnot S, Serre V, Chadefaux Vekemans B, Aupetit J, Romano S, de Lonlay P, et al. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. Hum Mutat. 2009;30:734-40 pubmed publisher..Finally, although most PC mutations are suggested to interfere with biotin metabolism, none of the PC-deficient patients was biotin-responsive...
- Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. Clin J Am Soc Nephrol. 2012;7:801-9 pubmed publisher..The objectives of this study were to describe the clinical and genetic features of familial hypomagnesemia with hypercalciuria and nephrocalcinosis and analyze phenotype-genotype associations in patients with CLDN16 or CLDN19 mutations...
- Siberil S, Ménez R, Jorieux S, de Romeuf C, Bourel D, Fridman W, et al. Effect of zinc on human IgG1 and its Fc?R interactions. Immunol Lett. 2012;143:60-9 pubmed..Interaction with the inhibitory Fc?RIIB is strongly perturbed by the mutations and mutant IgG1 H/K only weakly engages this receptor. By contrast, higher affinity Fc?R are mostly unaffected. ..
- Pasmant E, Vidaud M, Vidaud D, Wolkenstein P. Neurofibromatosis type 1: from genotype to phenotype. J Med Genet. 2012;49:483-9 pubmed publisher..This phenotypic variability may be due to both modifier genes and environmental factors. Recent targeted strategies have identified several interesting candidate modifier genes...
- Wandersman C, Delepelaire P. TolC, an Escherichia coli outer membrane protein required for hemolysin secretion. Proc Natl Acad Sci U S A. 1990;87:4776-80 pubmed..This result suggests that an outer membrane protein might be a component of the secretion apparatus allowing a specific interaction between the inner and the outer membrane. ..
- Pequignot M, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat. 2001;17:374-81 pubmed..The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date. ..
- Gobin S, Thuillier L, Jogl G, Faye A, Tong L, Chi M, et al. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. J Biol Chem. 2003;278:50428-34 pubmed..This study provides novel insights into the functionality of CPT1A that may contribute to the design of drugs for the treatment of lipid disorders. ..
- Klebe S, Durr A, Rentschler A, Hahn Barma V, Abele M, Bouslam N, et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol. 2005;58:720-9 pubmed..SCA14 represented only 1.5% (7/454) of French ADCA families but none of the German families. It should, however, be considered in patients with slowly progressive ADCA, particularly when myoclonus and cognitive impairment are present. ..
- Pattyn A, Guillemot F, Brunet J. Delays in neuronal differentiation in Mash1/Ascl1 mutants. Dev Biol. 2006;295:67-75 pubmed..Finally, we provide evidence that the acceleration imposed by Mash1, regardless of the production of post-mitotic cells, affects differentiation itself, both generic and type-specific. ..
- Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007;117:765-72 pubmed
- Magalon H, Patin E, Austerlitz F, Hegay T, Aldashev A, Quintana Murci L, et al. Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia. Eur J Hum Genet. 2008;16:243-51 pubmed..These results further support the hypothesis that a major transition in human lifestyle, such as the emergence of farming has dramatically changed human chemical environments and the selective pressures they imposed. ..
- Lucotte G, Houzet A, Hubans C, Lagarde J, Lenoir G. Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients. Genet Couns. 2009;20:53-62 pubmed..Mutations 274G>C, 283G>A and 617G>A segregate with the trait in five different FOP families, some members of them being partially affected by the disease. ..
- Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet. 2011;20:202-10 pubmed publisher..These genotype and clinical analyses on the largest homogeneous sample of European patients studied to date confirmed that GBA mutations are the most common genetic risk factor for PD, particularly in familial forms. ..
- Didelot A, Le Corre D, Luscan A, Cazes A, Pallier K, Emile J, et al. Competitive allele specific TaqMan PCR for KRAS, BRAF and EGFR mutation detection in clinical formalin fixed paraffin embedded samples. Exp Mol Pathol. 2012;92:275-80 pubmed publisher..Assay calibration on FFPE samples may prevent erroneous interpretations that will ultimately harm clinical oncology practice. ..
- Leccia E, Batonnet Pichon S, Tarze A, Bailleux V, Doucet J, Pelloux M, et al. Cyclic stretch reveals a mechanical role for intermediate filaments in a desminopathic cell model. Phys Biol. 2013;10:016001 pubmed publisher..Since these processes are known due to actin cytoskeleton, these results suggest the IFs implication in mechanics signal transduction. Further studies may lead to better understanding of their contribution to this process...
- Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri J, et al. Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. Hum Mutat. 1999;14:377-86 pubmed..3;q12.1) translocation carried by a TBS-affected individual was mapped at least 180 kb telomeric to SALL1, thus indicating that a position effect underlies the disease in this individual. ..
- Groussin L, Jullian E, Perlemoine K, Louvel A, LeHeup B, Luton J, et al. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab. 2002;87:4324-9 pubmed..Thus, genetic analysis can be of help to the clinician in the diagnosis of this difficult form of adrenal Cushing's syndrome. ..
- Lupoglazoff J, Denjoy I, Villain E, Fressart V, Simon F, Bozio A, et al. Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004;43:826-30 pubmed..In contrast, sinus bradycardia seems to be associated with KCNQ1 mutations, with a good short-term prognosis under BB therapy. ..
- Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, et al. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. 2004;23:306-17 pubmed..These flowcharts will hopefully lighten the heavy task of genotyping new patients but only if one has access to the most precise clinical history since birth. ..
- Bonnenfant S, Thomas C, Vita C, Subra F, Deprez E, Zouhiri F, et al. Styrylquinolines, integrase inhibitors acting prior to integration: a new mechanism of action for anti-integrase agents. J Virol. 2004;78:5728-36 pubmed..In contrast, SQLs were fully active against reverse transcriptase inhibitor- and diketo acid-resistant viruses, positioning SQLs as a second group of anti-integrase compounds. ..
- Akhavan S, Miteva M, Villoutreix B, Venisse L, Peyvandi F, Mannucci P, et al. A critical role for Gly25 in the B chain of human thrombin. J Thromb Haemost. 2005;3:139-45 pubmed
- Chalabaev S, Turlin E, Charles J, Namane A, Pages S, Givaudan A, et al. The HcaR regulatory protein of Photorhabdus luminescens affects the production of proteins involved in oxidative stress and toxemia. Proteomics. 2007;7:4499-510 pubmed..luminescens virulence. Our results also highlight the power of proteomic analysis for detecting unexpected links between different, concomitant processes in bacteria...
- Thiebaut R, Kotti S, Jung C, Merlin F, Colombel J, Lemann M, et al. TNFSF15 polymorphisms are associated with susceptibility to inflammatory bowel disease in a new European cohort. Am J Gastroenterol. 2009;104:384-91 pubmed publisher..We also failed to define a clinical subgroup of CD patients specifically associated with TNFSF15 haplotype A. This study confirms that TNFSF15 or a closely linked gene is involved in the genetic predisposition to CD. ..
- Couarch P, Vernia S, Gourfinkel An I, Lesca G, Gataullina S, Fedirko E, et al. Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. J Mol Med (Berl). 2011;89:915-25 pubmed publisher..Abnormal accumulation of intracellular glycogen was observed with all malin mutants, reminiscent of the polyglucosan inclusions (Lafora bodies) present in patients with Lafora disease. ..
- Putoux A, Thomas S, Coene K, Davis E, Alanay Y, Ogur G, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011;43:601-6 pubmed publisher..Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies. ..
- Rosenfeld N, Bouchier C, Courvalin P, Perichon B. Expression of the resistance-nodulation-cell division pump AdeIJK in Acinetobacter baumannii is regulated by AdeN, a TetR-type regulator. Antimicrob Agents Chemother. 2012;56:2504-10 pubmed publisher..The adeN gene was detected in all of the 30 A. baumannii strains tested and in Acinetobacter calcoaceticus, Acinetobacter nosocomialis, and Acinetobacter pittii...
- Delaugerre C, Braun J, Charreau I, Delarue S, Nere M, De Castro N, et al. Comparison of resistance mutation patterns in historical plasma HIV RNA genotypes with those in current proviral HIV DNA genotypes among extensively treated patients with suppressed replication. HIV Med. 2012;13:517-25 pubmed publisher..These results have implications for patient management and for the design of switch studies. ..
- Simon V, Oner S, Cohen Tannoudji J, Tobin A, Lanier S. Influence of the accessory protein SET on M3 muscarinic receptor phosphorylation and G protein coupling. Mol Pharmacol. 2012;82:17-26 pubmed publisher..These data indicate that SET decreases M3-MR dephosphorylation and regulates receptor engagement with G protein, both of which may contribute to the inhibitory action of SET on M3-MR signaling. ..
- Butcher D, Cytrynbaum C, Turinsky A, Siu M, Inbar Feigenberg M, Mendoza Londono R, et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet. 2017;100:773-788 pubmed publisher..Our findings demonstrate how characterization of the epigenome can contribute to our understanding of disease pathophysiology for epigenetic disorders, paving the way for explorations of novel therapeutics. ..
- Kaminski P, Mandon K, Arigoni F, Desnoues N, Elmerich C. Regulation of nitrogen fixation in Azorhizobium caulinodans: identification of a fixK-like gene, a positive regulator of nifA. Mol Microbiol. 1991;5:1983-91 pubmed..A model of regulation, based on these data, is presented and might explain the unusual ability of A. caulinodans to fix nitrogen both under symbiotic conditions and in the free-living state. ..
- Benjelloun Touimi Z, Si Tahar M, Montecucco C, Sansonetti P, Parsot C. SepA, the 110 kDa protein secreted by Shigella flexneri: two-domain structure and proteolytic activity. Microbiology. 1998;144 ( Pt 7):1815-22 pubmed publisher..The 47 kDa N-terminal domain was stable and endowed with proteolytic activity...
- Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, et al. Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Neuromuscul Disord. 2012;22:318-24 pubmed publisher..There was no genotype-phenotype correlation. At the end of the follow-up, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses. ..
- Bergounioux J, Brassier A, Rambaud C, Bustarret O, Michot C, Hubert L, et al. Fatal rhabdomyolysis in 2 children with LPIN1 mutations. J Pediatr. 2012;160:1052-4 pubmed publisher..Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit. ..
- Firon A, Tazi A, Da Cunha V, Brinster S, Sauvage E, Dramsi S, et al. The Abi-domain protein Abx1 interacts with the CovS histidine kinase to control virulence gene expression in group B Streptococcus. PLoS Pathog. 2013;9:e1003179 pubmed publisher..In conclusion, our study reports a regulatory function for Abx1, a member of a large protein family with a characteristic Abi-domain, which forms a signaling complex with the histidine kinase CovS in GBS...
- Chalabaev S, Chauhan A, Novikov A, Iyer P, Szczesny M, Beloin C, et al. Biofilms formed by gram-negative bacteria undergo increased lipid a palmitoylation, enhancing in vivo survival. MBio. 2014;5: pubmed publisher..While these results provide new insights into the biofilm lifestyle, they also suggest that the level of lipid A palmitoylation could be used as an indicator to monitor the development of biofilm infections on medical surfaces. ..
- Costa M, Hauzy C, Loeuille N, MÃ©lÃ©ard S. Stochastic eco-evolutionary model of a prey-predator community. J Math Biol. 2016;72:573-622 pubmed publisher..We illustrate these different limits with an example of prey-predator community that takes into account different prey defense mechanisms. We observe through simulations how these various prey strategies impact the community. ..
- Merkulova T, Frolova L, Lazar M, Camonis J, Kisselev L. C-terminal domains of human translation termination factors eRF1 and eRF3 mediate their in vivo interaction. FEBS Lett. 1999;443:41-7 pubmed..The human eRF1 lacking 22 C-terminal amino acids remains active as a release factor and promotes an eRF3 GTPase activity whereas C-terminally truncated eRF3 is inactive as a GTPase. ..
- Dode C, Fouveaut C, Mortier G, Janssens S, Bertherat J, Mahoudeau J, et al. Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat. 2007;28:97-8 pubmed..Moreover, the presence of cleft palate in a patient carrying the p.E324X change shows that FGFR1c is important for palate morphogenesis too...
- Dehainault C, Michaux D, Pages Berhouet S, Caux Moncoutier V, Doz F, Desjardins L, et al. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. Eur J Hum Genet. 2007;15:473-7 pubmed..This is the first report of a deep intronic mutation in RB1 and is a proof of concept that some undetected RB1 mutations should be investigated at the cDNA level, particularly in hereditary forms of retinoblastoma. ..
- Dubreuil V, Thoby Brisson M, Rallu M, Persson K, Pattyn A, Birchmeier C, et al. Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons. J Neurosci. 2009;29:14836-46 pubmed publisher..Together, our results provide genetic evidence for the essential role of the Phox2b-expressing RTN neurons both in establishing a normal respiratory rhythm before birth and in providing chemosensory drive. ..
- Machuca E, Benoit G, Nevo F, Tete M, Gribouval O, Pawtowski A, et al. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol. 2010;21:1209-17 pubmed publisher..In summary, these data demonstrate that CNS is not a distinct clinical entity in non-Finnish populations but rather a clinically and genetically heterogeneous group of disorders. ..
- Pelletier L, Rebouissou S, Vignjevic D, Bioulac Sage P, Zucman Rossi J. HNF1? inhibition triggers epithelial-mesenchymal transition in human liver cancer cell lines. BMC Cancer. 2011;11:427 pubmed publisher..Our results suggest that HNF1? is not only important for hepatocyte differentiation, but has also a role in the maintenance of epithelial phenotype in hepatocytes. ..
- Le Ber I, Camuzat A, Guerreiro R, Bouya Ahmed K, Bras J, Nicolas G, et al. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol. 2013;70:1403-10 pubmed publisher..Although the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD. ..
- Daïkha Dahmane F, Dommergues M, Narcy F, Gubler M, Dumez Y, Gauthier E, et al. Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses. Pediatr Dev Pathol. 2001;4:180-4 pubmed..The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus. ..
- 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. ..
- Maystadt I, Zarhrate M, Landrieu P, Boespflug Tanguy O, Sukno S, Collignon P, et al. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Hum Mutat. 2004;23:525-6 pubmed..The identification of novel IGHMBP2 variants will hopefully help diagnosing SMARD1 and contribute to a better functional characterization of IGHMBP2 gene product. ..
- Bambou J, Giraud A, Menard S, Begue B, Rakotobe S, Heyman M, et al. In vitro and ex vivo activation of the TLR5 signaling pathway in intestinal epithelial cells by a commensal Escherichia coli strain. J Biol Chem. 2004;279:42984-92 pubmed..These findings provide strong evidence that flagellin released by flagellated commensal bacteria in the intestinal lumen can induce a pro-inflammatory response in enterocytes in vivo. ..
- Randrianarison N, Escoubet B, Ferreira C, Fontayne A, Fowler Jaeger N, Clerici C, et al. beta-Liddle mutation of the epithelial sodium channel increases alveolar fluid clearance and reduces the severity of hydrostatic pulmonary oedema in mice. J Physiol. 2007;582:777-88 pubmed..These data show that constitutive ENaC activation improved sodium-driven AFC in the mouse lung, and attenuated the severity of hydrostatic pulmonary oedema. ..
- Ladeiro Y, Couchy G, Balabaud C, Bioulac Sage P, Pelletier L, Rebouissou S, et al. MicroRNA profiling in hepatocellular tumors is associated with clinical features and oncogene/tumor suppressor gene mutations. Hepatology. 2008;47:1955-63 pubmed publisher..Dissecting these relationships provides a new hypothesis to understand the functional impact of miRNA deregulation in liver tumorigenesis and the promising use of miRNAs as diagnostic markers. ..
- Benoit G, Machuca E, Nevo F, Gribouval O, Lepage D, Antignac C. Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2010;25:445-51 pubmed publisher..Recessive CD2AP and ACTN4 mutations are rare in children with SRNS. The absence of mutations in this study suggests that there are other genetic causes of SRNS that still need to be identified. ..
- Duprez R, Wilkerson P, Lacroix Triki M, Lambros M, Mackay A, A Hern R, et al. Immunophenotypic and genomic characterization of papillary carcinomas of the breast. J Pathol. 2012;226:427-441 pubmed publisher..Furthermore, the good prognosis of papillary carcinomas may stem from the low rates of lymph node metastasis and p53 expression, low number of gene copy number aberrations and high prevalence of PIK3CA mutations. ..
- Boissel L, Fillatre J, Moreau J. Identification and characterization of the RLIP/RALBP1 interacting protein Xreps1 in Xenopus laevis early development. PLoS ONE. 2012;7:e33193 pubmed publisher..Later in development, Reps1 is required for the normal function of the ectodermic cell, and its targeting into the plasma membrane affects the stability of the ectoderm. ..
- Mavrakis M, Azou Gros Y, Tsai F, Alvarado J, Bertin A, Iv F, et al. Septins promote F-actin ring formation by crosslinking actin filaments into curved bundles. Nat Cell Biol. 2014;16:322-34 pubmed publisher..The bundling and bending activities are conserved for human septins, and highlight unique functions of septins in the organization of contractile actomyosin rings. ..
- Jacquier A, Delorme C, Belotti E, Juntas Morales R, Solé G, Dubourg O, et al. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Acta Neuropathol Commun. 2017;5:55 pubmed publisher..Thus, our results provide a physiological explanation for the overlap between CMT and amyotrophic lateral sclerosis (ALS) clinical features in affected patients. ..
- Popham D, Stragier P. Cloning, characterization, and expression of the spoVB gene of Bacillus subtilis. J Bacteriol. 1991;173:7942-9 pubmed..These results are consistent with SpoVB being involved in cortex biosynthesis and affecting only indirectly expression of late sporulation genes. ..
- Braun L, Dramsi S, Dehoux P, Bierne H, Lindahl G, Cossart P. InlB: an invasion protein of Listeria monocytogenes with a novel type of surface association. Mol Microbiol. 1997;25:285-94 pubmed..This motif may have important consequences for the release of surface proteins involved in interactions with eukaryotic cells. ..
- Formstecher E, Ramos J, Fauquet M, Calderwood D, Hsieh J, Canton B, et al. PEA-15 mediates cytoplasmic sequestration of ERK MAP kinase. Dev Cell. 2001;1:239-50 pubmed..Thus, PEA-15 can redirect the biological outcome of MAP kinase signaling by regulating the subcellular localization of ERK MAP kinase. ..
- Benit P, Beugnot R, Chretien D, Giurgea I, De Lonlay Debeney P, Issartel J, et al. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat. 2003;21:582-6 pubmed
- Blom A, Villoutreix B, Dahlback B. Mutations in alpha-chain of C4BP that selectively affect its factor I cofactor function. J Biol Chem. 2003;278:43437-42 pubmed..It appears that C4b and C3b do not undergo the same conformational changes upon binding to the C4BP mutants as during the interaction with the wild type C4BP, which then results in the observed loss of the cofactor activity. ..
- Dupuy A, L Hoste S, Cherfils J, Camonis J, Gaudriault G, de Gunzburg J. Novel Rap1 dominant-negative mutants interfere selectively with C3G and Epac. Oncogene. 2005;24:4509-20 pubmed
- Gaultier C, Trang H, Dauger S, Gallego J. Pediatric disorders with autonomic dysfunction: what role for PHOX2B?. Pediatr Res. 2005;58:1-6 pubmed..Furthermore, the development of genetic mouse models should help to improve our understanding of the molecular mechanisms underlying neural crest disorders. ..
- Blons H, Cote J, Le Corre D, Riquet M, Fabre Guilevin E, Laurent Puig P, et al. Epidermal growth factor receptor mutation in lung cancer are linked to bronchioloalveolar differentiation. Am J Surg Pathol. 2006;30:1309-15 pubmed..The identification of BAC features in ADC helps clustering patients that are more likely to fit the EGFR-mutated group. ..
- Laurent Puig P, Cayre A, Manceau G, Buc E, Bachet J, Lecomte T, et al. Analysis of PTEN, BRAF, and EGFR status in determining benefit from cetuximab therapy in wild-type KRAS metastatic colon cancer. J Clin Oncol. 2009;27:5924-30 pubmed publisher..Subsequent studies in clinical trial cohorts will be required to confirm the clinical utility of these markers. ..
- Alkhuder K, Meibom K, Dubail I, Dupuis M, Charbit A. Identification of trkH, encoding a potassium uptake protein required for Francisella tularensis systemic dissemination in mice. PLoS ONE. 2010;5:e8966 pubmed publisher..tularensis infectious cycle. More generally, potassium could constitute an important mineral nutrient involved in other diseases linked to systemic dissemination of bacterial pathogens. ..
- ..Prognosis is poor and most patients die at a young age. Intervention strategies targeting ER dysfunction provide hope for future therapy and prevention...
- Cifuentes Diaz C, Chareyre F, Garcia M, Devaux J, Carnaud M, Levasseur G, et al. Protein 4.1B contributes to the organization of peripheral myelinated axons. PLoS ONE. 2011;6:e25043 pubmed publisher..Thus, our results show that in myelinated axons 4.1B contributes to the stabilization of membrane proteins at paranodes, to the clustering of juxtaparanodal proteins, and to the regulation of the internodal axon caliber. ..
- Charpentier C, Gody J, Tisserand P, Matta M, Pere H, Fournier J, et al. Surveillance of antiretroviral drug resistance mutations in untreated young children living in the Central African Republic. Antivir Ther. 2011;16:1347-50 pubmed publisher..These observations highlight the need to make an early diagnosis of the possibility of virological failure in Central African children receiving their first-line antiretroviral regimen. ..
- Dutilleul C, Benhassaine Kesri G, Demandre C, Rezé N, Launay A, Pelletier S, et al. Phytosphingosine-phosphate is a signal for AtMPK6 activation and Arabidopsis response to chilling. New Phytol. 2012;194:181-91 pubmed publisher..Together, our data indicate a function for LCBK2 in planta. Furthermore, they connect PHS-P formation with plant response to cold, expanding the field of LCB signalling in plants. ..
- Sobrier M, Brachet C, Vie Luton M, Perez C, Copin B, Legendre M, et al. Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. J Clin Endocrinol Metab. 2012;97:E503-9 pubmed publisher..Isolated limitation of head rotation may exist in heterozygous carriers and would result from a dominant-negative effect. These data allowed the first prenatal diagnoses of this severe condition to be performed. ..
- Shrivastava A, Kowalewski J, Renner M, Bousset L, Koulakoff A, Melki R, et al. ?-amyloid and ATP-induced diffusional trapping of astrocyte and neuronal metabotropic glutamate type-5 receptors. Glia. 2013;61:1673-86 pubmed publisher..Thus, A? oligomer- and mGluR5-dependent ATP release by astrocytes may contribute to the overall deleterious effect of mGluR5s in Alzheimer's disease. GLIA 2013;61:1673-1686. ..
- Bandopadhayay P, Ramkissoon L, Jain P, Bergthold G, Wala J, Zeid R, et al. MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism. Nat Genet. 2016;48:273-82 pubmed publisher..To our knowledge, this represents the first example of a single driver rearrangement simultaneously transforming cells via three genetic and epigenetic mechanisms in a tumor. ..
- Haentjens Sitri J, Allemand F, Springer M, Chiaruttini C. A competition mechanism regulates the translation of the Escherichia coli operon encoding ribosomal proteins L35 and L20. J Mol Biol. 2008;375:612-25 pubmed..We show that the pseudoknot, which is known to be essential for L20 binding and regulation, also enhances 30S binding to mRNA as if this structure is specifically recognised by the ribosome. ..
- Schoindre Y, Feydy A, Giraudet Lequintrec J, Kahan A, Allanore Y. TNF receptor-associated periodic syndrome (TRAPS): a new cause of joint destruction?. Joint Bone Spine. 2009;76:567-9 pubmed publisher..To our knowledge, this is the first reported case of joint destruction related to TRAPS. In patients with refractory inflammatory joint disease, the presence of extraarticular manifestations, however mundane, should suggest TRAPS. ..
- Meune C, Wahbi K, Gobeaux C, Duboc D, Pecker F, Bonne G. N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations. Int J Cardiol. 2011;151:160-3 pubmed publisher..697-1.000]). Sensitivity and specificity were 88% and 83% respectively, applying manufacturer's recommended cut-off concentration of 125 pg/ml. NT-proBNP reliably detected the presence of reduced LV/RV contractility in LMNA patients. ..
- Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am J Hum Genet. 1996;59:308-19 pubmed..Moreover, it provides accurate positional information--and hence recognition of multiple substitutions, precise relationship with those already known, and often immediate identification of the nucleotide change. ..
- Mariani P, Lae M, Degeorges A, Cacheux W, Lappartient E, Margogne A, et al. Concordant analysis of KRAS status in primary colon carcinoma and matched metastasis. Anticancer Res. 2010;30:4229-35 pubmed..We concluded there was a high concordance in the KRAS status between the primary tumour and metastases. More than one informative block and more sensitive assay may increase the accuracy of KRAS status determination. ..
- Bouayad D, Pederzoli Ribeil M, Mocek J, Candalh C, Arlet J, Hermine O, et al. Nuclear-to-cytoplasmic relocalization of the proliferating cell nuclear antigen (PCNA) during differentiation involves a chromosome region maintenance 1 (CRM1)-dependent export and is a prerequisite for PCNA antiapoptotic activity in mature neutrophi. J Biol Chem. 2012;287:33812-25 pubmed..Nuclear-to-cytoplasmic relocalization that occurred during myeloid differentiation is essential for PCNA antiapoptotic activity in mature neutrophils and is dependent on the newly identified monomerization-dependent PCNA NES. ..
- Chelly J, Gilgenkrantz H, Hugnot J, Hamard G, Lambert M, Recan D, et al. Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients. J Clin Invest. 1991;88:1161-6 pubmed..These results demonstrate that illegitimate transcripts are a bona fide version of tissue-specific mRNA, and that they represent a useful material to investigate the qualitative consequences of gene defects at the mRNA level. ..
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