Experts and Doctors on mutation in Paris, Île de France, France


Locale: Paris, Île de France, France
Topic: mutation

Top Publications

  1. Vahedi K, Boukobza M, Massin P, Gould D, Tournier Lasserve E, Bousser M. Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology. 2007;69:1564-8 pubmed
    ..Some affected family members may remain asymptomatic during several years of follow-up and have no evidence of progression of vascular changes on brain MRI. ..
  2. Lascombe M, Bakan B, Buhot N, Marion D, Blein J, Larue V, et al. The structure of "defective in induced resistance" protein of Arabidopsis thaliana, DIR1, reveals a new type of lipid transfer protein. Protein Sci. 2008;17:1522-30 pubmed publisher
  3. Busi F, Le Derout J, Cerciat M, Regnier P, Hajnsdorf E. Is the secondary putative RNA-RNA interaction site relevant to GcvB mediated regulation of oppA mRNA in Escherichia coli?. Biochimie. 2010;92:1458-61 pubmed publisher
    ..None of these modifications affected the ability of GcvB to control OppA expression. Therefore the second, putative, interaction site appears to be unnecessary for the regulatory function of GcvB with regard to its oppA target mRNA. ..
  4. Laurent Winter C, Ngo S, Danchin A, Bertin P. Role of Escherichia coli histone-like nucleoid-structuring protein in bacterial metabolism and stress response--identification of targets by two-dimensional electrophoresis. Eur J Biochem. 1997;244:767-73 pubmed
    ..Finally, synthesis of several proteins belonging to the heat-shock regulon, more particularly molecular chaperones, was induced in an hns mutant. ..
  5. Padlewska K, Ramoz N, Cassonnet P, Riou G, Barrois M, Majewski S, et al. Mutation and abnormal expression of the p53 gene in the viral skin carcinogenesis of epidermodysplasia verruciformis. J Invest Dermatol. 2001;117:935-42 pubmed
    ..The part played by human papillomavirus type 5 proteins expressed in epidermodysplasia verruciformis keratinocytes remains to be determined...
  6. Picard C, Fieschi C, Altare F, Al Jumaah S, Al Hajjar S, Feinberg J, et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet. 2002;70:336-48 pubmed
    ..To date, two founder IL12B mutations have been identified, accounting for the recurrence of a large deletion and a small insertion within populations from the Indian subcontinent and from the Arabian Peninsula, respectively. ..
  7. Schiff M, Mine M, Brivet M, Marsac C, Elmaleh Berges M, Evrard P, et al. Leigh's disease due to a new mutation in the PDHX gene. Ann Neurol. 2006;59:709-14 pubmed
    ..These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene. ..
  8. Randrianarison N, Clerici C, Ferreira C, Fontayne A, Pradervand S, Fowler Jaeger N, et al. Low expression of the beta-ENaC subunit impairs lung fluid clearance in the mouse. Am J Physiol Lung Cell Mol Physiol. 2008;294:L409-16 pubmed
    ..Finally, adequate beta-ENaC expression appears to be required for AFC stimulation by beta2-agonists. ..
  9. Susini L, Besse S, Duflaut D, Lespagnol A, Beekman C, Fiucci G, et al. TCTP protects from apoptotic cell death by antagonizing bax function. Cell Death Differ. 2008;15:1211-20 pubmed publisher
    ..Together, these data therefore further confirm the antiapoptotic role of TCTP in vivo and provide new mechanistic insights into this key function of TCTP. ..

More Information

Publications1011 found, 100 shown here

  1. 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...
  2. 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...
  3. 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. ..
  4. 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...
  5. 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. ..
  6. 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. ..
  7. 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. ..
  8. 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. ..
  9. 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. ..
  10. 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
  11. 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. ..
  12. 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. ..
  13. Pavlowsky A, Gianfelice A, Pallotto M, Zanchi A, Vara H, Khelfaoui M, et al. A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. Curr Biol. 2010;20:103-15 pubmed publisher
  14. 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. ..
  15. Nectoux J, Fichou Y, Cagnard N, Bahi Buisson N, Nusbaum P, Letourneur F, et al. Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. J Mol Med (Berl). 2011;89:193-202 pubmed publisher
  16. 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. ..
  17. 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...
  18. 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. ..
  19. 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. ..
  20. 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. ..
  21. 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. ..
  22. 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. ..
  23. 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
  24. 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...
  25. 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. ..
  26. 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. ..
  27. 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. ..
  28. 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...
  29. 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. ..
  30. 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. ..
  31. 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. ..
  32. Ogunjimi B, Zhang S, Sørensen K, Skipper K, Carter Timofte M, Kerner G, et al. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections. J Clin Invest. 2017;127:3543-3556 pubmed publisher
  33. 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. ..
  34. 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...
  35. Jeru I, Duquesnoy P, Fernandes Alnemri T, Cochet E, Yu J, Lackmy Port Lis M, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008;105:1614-9 pubmed publisher
  36. 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. ..
  37. 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. ..
  38. 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...
  39. 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. ..
  40. Costa M, Hauzy C, Loeuille N, Méléard 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. ..
  41. 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. ..
  42. 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...
  43. 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. ..
  44. 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. ..
  45. 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. ..
  46. 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. ..
  47. 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. ..
  48. 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. ..
  49. 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. ..
  50. 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. ..
  51. 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. ..
  52. 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. ..
  53. 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. ..
  54. 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. ..
  55. 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. ..
  56. 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. ..
  57. Le Cunff Y, Baudisch A, Pakdaman K. How evolving heterogeneity distributions of resource allocation strategies shape mortality patterns. PLoS Comput Biol. 2013;9:e1002825 pubmed publisher
  58. 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. ..
  59. Chassaing N, Davis E, McKnight K, Niederriter A, Causse A, David V, et al. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res. 2016;26:474-85 pubmed publisher
  60. 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. ..
  61. 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. ..
  62. 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. ..
  63. 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. ..
  64. 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
  65. 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. ..
  66. 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
  67. 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. ..
  68. 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. ..
  69. Leroy C, Fouveaut C, Leclercq S, Jacquemont S, Boullay H, Lespinasse J, et al. Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome. Eur J Hum Genet. 2008;16:865-8 pubmed publisher
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