Genomes and Genes
Experts and Doctors on phenotype in Paris, Île de France, France
Locale: Paris, Île de France, France
Publications457 found, 100 shown here
- Lefevre J, Parc Y, Svrcek M, Kerneis S, Colas C, Shields C, et al. APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. Ann Surg Oncol. 2009;16:871-7 pubmed publisher..This two-way analysis did not show any correlation that might help to identify a subgroup of patients with APC mutation that may be considered attenuated. It is more likely that the MAP syndrome is the real AFAP. ..
- Chaudru V, Lo M, Lesueur F, Marian C, Mohamdi H, Laud K, et al. Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes. Fam Cancer. 2009;8:371-7 pubmed publisher..This study shows that even when a high-risk gene (CDKN2A) has been identified, multiple genetic modifiers influence melanoma risk. ..
- Pantel J, Legendre M, Nivot S, Morisset S, Vie Luton M, Le Bouc Y, et al. Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. J Clin Endocrinol Metab. 2009;94:4334-41 pubmed publisher..A204E mutation. ..
- Mlecnik B, Tosolini M, Charoentong P, Kirilovsky A, Bindea G, Berger A, et al. Biomolecular network reconstruction identifies T-cell homing factors associated with survival in colorectal cancer. Gastroenterology. 2010;138:1429-40 pubmed publisher..Intratumoral-specific TCR use correlated with the prognosis of the patients. ..
- Cobat A, Gallant C, Simkin L, Black G, Stanley K, Hughes J, et al. High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease. J Infect Dis. 2010;201:15-9 pubmed publisher..These results directly demonstrate the pivotal role played by host genetics in quantitative measures of antimycobacterial immunity underlying immune diagnosis of TB infection. ..
- Barreiro L, Quintana Murci L. From evolutionary genetics to human immunology: how selection shapes host defence genes. Nat Rev Genet. 2010;11:17-30 pubmed publisher..A tighter integration between population genetic studies and immunological phenotype studies is now necessary to reveal the mechanisms that have been crucial for our past and present survival against infection. ..
- Todeschini A, Teysset L, Delmarre V, Ronsseray S. The epigenetic trans-silencing effect in Drosophila involves maternally-transmitted small RNAs whose production depends on the piRNA pathway and HP1. PLoS ONE. 2010;5:e11032 pubmed publisher..In addition, the sensitivity of TSE to HP1 dose suggests that in Drosophila, as previously shown in Schizosaccharomyces pombe, a RNA silencing pathway can depend on heterochromatin components. ..
- Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood. 2011;117:1522-9 pubmed publisher..This first phenotypic comparison of XLP subtypes should help to improve the diagnosis and the care of patients with XLP conditions. ..
- Bergaya S, Vidal Petiot E, Jeunemaitre X, Hadchouel J. Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations. Curr Opin Nephrol Hypertens. 2012;21:39-45 pubmed publisher..Studies performed in mouse models of KS-WNK1 inactivation or WNK4-related PHA2, however, have revealed that the situation is much more complex. ..
- Just J, Saint Pierre P, Gouvis Echraghi R, Laoudi Y, Roufai L, Momas I, et al. Childhood allergic asthma is not a single phenotype. J Pediatr. 2014;164:815-20 pubmed publisher..The identification of 2 novel severe allergic asthma phenotypes "Pollen Sensitization with Severe Exacerbations"and "Multiple Allergies and Severe Asthma" could lead to specific targeted treatment. ..
- Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain. 2006;129:1456-62 pubmed..The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan. ..
- McAllister A, Tangy F, Aubert C, Brahic M. Molecular cloning of the complete genome of Theiler's virus, strain DA, and production of infectious transcripts. Microb Pathog. 1989;7:381-8 pubmed..At this stage no RNA or antigens were found in neurons. Therefore the phenotype of R1-DA was indistinguishable from that of genuine DA Theiler's virus. ..
- Gabolde M, Hubert D, Guilloud Bataille M, Lenaerts C, Feingold J, Besmond C. The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis. J Med Genet. 2001;38:310-1 pubmed
- Lefebvre C, Terret M, Djiane A, Rassinier P, Maro B, Verlhac M. Meiotic spindle stability depends on MAPK-interacting and spindle-stabilizing protein (MISS), a new MAPK substrate. J Cell Biol. 2002;157:603-13 pubmed..We therefore have discovered a new MAPK substrate involved in maintaining spindle integrity during the CSF arrest of mouse oocytes, called MISS (for MAP kinase-interacting and spindle-stabilizing protein). ..
- Haut S, de Villemeur T, Brivet M, Guiochon Mantel A, Boutron A, Rustin P, et al. The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers. Eur J Hum Genet. 2004;12:220-4 pubmed..We suggest that other factors are contributing to the clinical variability expression of the G15498A mtDNA mutation. ..
- Bellanne Chantelot C, Chauveau D, Gautier J, Dubois Laforgue D, Clauin S, Beaufils S, et al. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med. 2004;140:510-7 pubmed
- Perdu J, Gimenez Roqueplo A, Boutouyrie P, Beaujour S, Laloux B, Nau V, et al. Alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia. J Hypertens. 2006;24:705-10 pubmed..As the true prevalence of renal FMD is not precisely known and alpha1-antitrypsin deficiency is not infrequent in the general population, the association of the two may occur by chance. ..
- Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, et al. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Neurogenetics. 2007;8:307-15 pubmed..Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus. ..
- Pezeron G, Lambert G, Dickmeis T, Strahle U, Rosa F, Mourrain P. Rasl11b knock down in zebrafish suppresses one-eyed-pinhead mutant phenotype. PLoS ONE. 2008;3:e1434 pubmed publisher..This data suggests a new branch of Oep signaling that has implications for germ layer development, as well as for studies of Oep/Frl1/Cripto1 dysfunction, such as that found in tumors. ..
- Dutertre C, Bonnin Gélizé E, Pulford K, Bourel D, Fridman W, Teillaud J. A novel subset of NK cells expressing high levels of inhibitory FcgammaRIIB modulating antibody-dependent function. J Leukoc Biol. 2008;84:1511-20 pubmed publisher..Thus, it is proposed that FcgammaRIIBbright NK cells represent a new NK cell compartment able to down-modulate NK cell functions triggered by the engagement of activating FcgammaR. ..
- Bahi Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, et al. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet. 2008;45:647-53 pubmed publisher..Our data highlight the presence of consistent and specific abnormalities that should allow the differentiation of TUBA1A related lissencephalies from those related to LIS1, DCX and ARX genes. ..
- Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab. 2009;94:2085-91 pubmed publisher..CNC is genetically and clinically heterogeneous. Certain tumors are more frequent, with specific mutations providing some genotype-phenotype correlation for PRKAR1A mutations. ..
- Pothlichet J, Burtey A, Kubarenko A, Caignard G, Solhonne B, Tangy F, et al. Study of human RIG-I polymorphisms identifies two variants with an opposite impact on the antiviral immune response. PLoS ONE. 2009;4:e7582 pubmed publisher..This work also demonstrated that serine 183 is a residue that critically regulates RIG-I-induced antiviral signaling. ..
- Henry C, Latge J, Beauvais A. ?1,3 glucans are dispensable in Aspergillus fumigatus. Eukaryot Cell. 2012;11:26-9 pubmed publisher..The lack of ?1,3 glucans affects neither conidial germination nor mycelial vegetative growth and is compensated by an increase in ?1,3 glucan and/or chitin content. ..
- Vingert B, Benati D, Lambotte O, de Truchis P, Slama L, Jeannin P, et al. HIV controllers maintain a population of highly efficient Th1 effector cells in contrast to patients treated in the long term. J Virol. 2012;86:10661-74 pubmed publisher..In conclusion, HIV controllers maintained a population of highly efficient Th1 effectors directed against Gag in spite of a persistently low antigenemia, while patients treated in the long term showed a loss of CD4 effector functions. ..
- Jagut M, Mihaila Bodart L, Molla Herman A, Alin M, Lepesant J, Huynh J. A mosaic genetic screen for genes involved in the early steps of Drosophila oogenesis. G3 (Bethesda). 2013;3:409-25 pubmed publisher..This collection of mutants will be useful to investigate further the early steps of Drosophila oogenesis at a genetic level. ..
- Laclef C, Hamard G, Demignon J, Souil E, Houbron C, Maire P. Altered myogenesis in Six1-deficient mice. Development. 2003;130:2239-52 pubmed..It appears therefore that Six1 plays a specific role in hypaxial muscle differentiation, distinct from those of other hypaxial determinants such as Pax3, cMet, Lbx1 or Mox2. ..
- Buhard O, Suraweera N, Lectard A, Duval A, Hamelin R. Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis. Dis Markers. 2004;20:251-7 pubmed..We have already proposed a pentaplex MSI screening test comprising 5 quasimonomorphic mononucleotide repeats. This article compares the advantages of mono or dinucleotide repeats in determining microsatellite instability. ..
- Appay V, van Lier R, Sallusto F, Roederer M. Phenotype and function of human T lymphocyte subsets: consensus and issues. Cytometry A. 2008;73:975-83 pubmed publisher..Finally, we discuss the problems which still limit general agreement. ..
- Mougou Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat. 2009;30:1574-82 pubmed publisher..Therefore, and in accordance with the data reported regarding RPGRIP1L, our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS. ..
- Dupuy S, Lambert M, Zucman D, Choukem S, Tognarelli S, Pagès C, et al. Human Herpesvirus 8 (HHV8) sequentially shapes the NK cell repertoire during the course of asymptomatic infection and Kaposi sarcoma. PLoS Pathog. 2012;8:e1002486 pubmed publisher..Importantly, our results provide additional support to the use of PGE2 inhibitors as an attractive approach to treat aggressive KS, as they could restore activation and survival of tumoricidal NK cells. ..
- Gaubert P, Bloch C, Benyacoub S, Abdelhamid A, Pagani P, Djagoun C, et al. Reviving the African wolf Canis lupus lupaster in North and West Africa: a mitochondrial lineage ranging more than 6,000 km wide. PLoS ONE. 2012;7:e42740 pubmed publisher..In terms of conservation, it appears urgent to further characterize the status of the African wolf with regard to the African golden jackal. ..
- Nagamine C, Michot J, Roberts C, Guenet J, Bishop C. Linkage of the murine steroid sulfatase locus, Sts, to sex reversed, Sxr: a genetic and molecular analysis. Nucleic Acids Res. 1987;15:9227-38 pubmed..Our data is in contrast to a recent report of a recombination frequency separating Sts and Sxr of as high as 6.2-9.8%. ..
- Ravassard P, Cote F, Grondin B, Bazinet M, Mallet J, Aubry M. ZNF74, a gene deleted in DiGeorge syndrome, is expressed in human neural crest-derived tissues and foregut endoderm epithelia. Genomics. 1999;62:82-5 pubmed..Thus, the restricted expression of ZNF74 in structures affected in DGS suggests a role for this putative regulator of gene expression in aspects of the DGS phenotype. ..
- Letavernier E, Perez J, Joye E, Bellocq A, Fouqueray B, Haymann J, et al. Peroxisome proliferator-activated receptor beta/delta exerts a strong protection from ischemic acute renal failure. J Am Soc Nephrol. 2005;16:2395-402 pubmed..These results point to PPARbeta/delta as a remarkable new target for preconditioning strategies. ..
- Guilherme R, Baumann C, Garel C, Huten Y, Oury J, Delezoide A. Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs. Am J Med Genet A. 2008;146A:1775-80 pubmed publisher..To our knowledge, this combination of anomalies has never been described before, and we propose that this disorder comprises a new humero-radial synostosis syndrome with an autosomal recessive or X-linked pattern of inheritance...
- Bailleul Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns J, Verloes A. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet. 2008;51:383-408 pubmed publisher..A better knowledge of the dental phenotype may contribute to an earlier diagnosis of some MCA syndromes involving teeth anomalies. They may serve as a diagnostic indicator or help confirm a syndrome diagnosis. ..
- Bille E, Ure R, Gray S, Kaczmarski E, McCarthy N, Nassif X, et al. Association of a bacteriophage with meningococcal disease in young adults. PLoS ONE. 2008;3:e3885 pubmed publisher..Such an approach is particularly valuable in the investigation of exclusively human diseases. ..
- Desguerre I, Christov C, Mayer M, Zeller R, Becane H, Bastuji Garin S, et al. Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS ONE. 2009;4:e4347 pubmed publisher..To explore clinical heterogeneity of Duchenne muscular dystrophy (DMD), viewed as a major obstacle to the interpretation of therapeutic trials..
- Collet J, Hulot J, Anzaha G, Pena A, Chastre T, Caron C, et al. High doses of clopidogrel to overcome genetic resistance: the randomized crossover CLOVIS-2 (Clopidogrel and Response Variability Investigation Study 2). JACC Cardiovasc Interv. 2011;4:392-402 pubmed publisher..Clopidogrel resistance can be overcome by increasing the dose in heterozygous carriers but not in homozygous carriers. (Clopidogrel and Response Variability Investigation Study 2 [CLOVIS-2]; NCT00822666). ..
- Gayraud Morel B, Chretien F, Jory A, Sambasivan R, Negroni E, Flamant P, et al. Myf5 haploinsufficiency reveals distinct cell fate potentials for adult skeletal muscle stem cells. J Cell Sci. 2012;125:1738-49 pubmed publisher..These findings have important implications for how stem cell fates can be modulated by crucial transcription factors while generating a pool of responsive heterogeneous cells. ..
- Putoux A, Nampoothiri S, Laurent N, Cormier Daire V, Beales P, Schinzel A, et al. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet. 2012;49:713-20 pubmed publisher..KIF7 should be tested in less typical patients in whom craniofacial features are suggestive of ACLS. ..
- Forand A, Beck L, Leroy C, Rousseau A, Boitez V, Cohen I, et al. EKLF-driven PIT1 expression is critical for mouse erythroid maturation in vivo and in vitro. Blood. 2013;121:666-78 pubmed publisher..This is the first demonstration of a physiologic involvement of PIT1 in erythroid maturation in vivo. ..
- Neuraz A, Chouchana L, Malamut G, Le Beller C, Roche D, Beaune P, et al. Phenome-wide association studies on a quantitative trait: application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics. PLoS Comput Biol. 2013;9:e1003405 pubmed publisher..In the field of pharmacogenomics, PheWAS allow for the identification of new subgroups of patients who require personalized clinical and therapeutic management. ..
- Rice G, del Toro Duany Y, Jenkinson E, Forte G, Anderson B, Ariaudo G, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014;46:503-509 pubmed publisher..Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation. ..
- Eyer K, Doineau R, Castrillon C, Briseño Roa L, Menrath V, Mottet G, et al. Single-cell deep phenotyping of IgG-secreting cells for high-resolution immune monitoring. Nat Biotechnol. 2017;35:977-982 pubmed publisher..This system will not only enable immune monitoring and optimization of immunization and vaccination protocols but also potentiate antibody screening. ..
- Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra R, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet. 1996;12:442-4 pubmed..EDN3 thus becomes the third known gene (after RET and EDNRB) predisposing to HSCR, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests. ..
- Pagnoux C, Guilpain P, Guillevin L. Churg-Strauss syndrome. Curr Opin Rheumatol. 2007;19:25-32 pubmed..Furthermore, some patients may benefit from new biologic therapies under development, for example antiinterleukin-5 or antiimmunoglobulin E monoclonal antibodies. ..
- Decaudain A, Vantyghem M, Guerci B, Hecart A, Auclair M, Reznik Y, et al. New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J Clin Endocrinol Metab. 2007;92:4835-44 pubmed..Dual-energy x-ray absorptiometry and/or cross-sectional abdominal and thigh imaging can help diagnosis by revealing subclinical lipodystrophy. The prevalence and pathophysiology of metabolic laminopathies need to be studied further. ..
- Casanova J, Fieschi C, Zhang S, Abel L. Revisiting human primary immunodeficiencies. J Intern Med. 2008;264:115-27 pubmed publisher..We need to increase awareness of the multitude of clinical presentations of human PIDs considerably and rapidly in the medical community. Human PIDs should be considered in a wide range of clinical situations. ..
- Nascimbeni M, Perié L, Chorro L, Diocou S, Kreitmann L, Louis S, et al. Plasmacytoid dendritic cells accumulate in spleens from chronically HIV-infected patients but barely participate in interferon-alpha expression. Blood. 2009;113:6112-9 pubmed publisher..Therefore, pDCs accumulated in spleens from HIV+ patients with high proviral loads, but they did not seem to be the main IFN-alpha producers. ..
- Abadie V, Bonduelle O, Duffy D, Parizot C, Verrier B, Combadiere B. Original encounter with antigen determines antigen-presenting cell imprinting of the quality of the immune response in mice. PLoS ONE. 2009;4:e8159 pubmed publisher..This study improves our understanding of the mechanisms of antigen delivery and their consequences on the quality of immune responses and provides new insights for vaccine development. ..
- 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. ..
- Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanche H, et al. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat. 2013;34:1510-8 pubmed publisher..The association analysis of these mutation types with 12 common NF1 clinical features confirmed a weak contribution of the allelic heterogeneity of the NF1 mutation to the NF1 variable expressivity. ..
- Guy Grand D, Vassalli P, Eberl G, Pereira P, Burlen Defranoux O, Lemaitre F, et al. Origin, trafficking, and intraepithelial fate of gut-tropic T cells. J Exp Med. 2013;210:1839-54 pubmed publisher..These events occur continuously as part of the normal IEL dynamics. ..
- Chabbi Achengli Y, Launay J, Maroteaux L, de Vernejoul M, Collet C. Serotonin 2B receptor (5-HT2B R) signals through prostacyclin and PPAR-ß/? in osteoblasts. PLoS ONE. 2013;8:e75783 pubmed publisher..This study thus reveals a previously unrecognized cell autonomous osteoblast defect in the absence of 5-HT2BR and highlights a new pathway linking 5-HT2B receptors and nuclear PPAR- ß/? via prostacyclin. ..
- Holtz Y, Bonnefoy M, Viader V, Ardisson M, Rode N, Poux G, et al. Epistatic determinism of durum wheat resistance to the wheat spindle streak mosaic virus. Theor Appl Genet. 2017;130:1491-1505 pubmed publisher..Flanking sequences of our genetic markers are provided to facilitate future marker-assisted selection of WSSMV-resistant cultivars. ..
- Arambourou H, Chaumot A, Vulliet E, Daniele G, Delorme N, Abbaci K, et al. Phenotypic defects in newborn Gammarus fossarum (Amphipoda) following embryonic exposure to fenoxycarb. Ecotoxicol Environ Saf. 2017;144:193-199 pubmed publisher..These results demonstrate that fenoxycarb can alter embryonic development of G. fossarum without disrupting developmental homeostasis. ..
- Lachapelle F, Lapie P, Campagnoni A, Gumpel M. Oligodendrocytes of the jimpy phenotype can be partially restored by environmental factors in vivo. J Neurosci Res. 1991;29:235-43 pubmed..Finally, comparison of the ratio of successful outcomes observed following embryonic vs. newborn jp donor tissue, strongly suggests a partial or total normalization of jp embryonic ODCs survival by a more mature shi environment. ..
- Soriano E, Dumesnil N, Auladell C, Cohen Tannoudji M, Sotelo C. Molecular heterogeneity of progenitors and radial migration in the developing cerebral cortex revealed by transgene expression. Proc Natl Acad Sci U S A. 1995;92:11676-80 pubmed..Furthermore, the data show that neurons committed to the expression of the transgene migrate along very narrow, radial stripes. ..
- Gelebart P, Kovacs T, Brouland J, Van Gorp R, Grossmann J, Rivard N, et al. Expression of endomembrane calcium pumps in colon and gastric cancer cells. Induction of SERCA3 expression during differentiation. J Biol Chem. 2002;277:26310-20 pubmed
- Caligiuri G, Rudling M, Ollivier V, Jacob M, Michel J, Hansson G, et al. Interleukin-10 deficiency increases atherosclerosis, thrombosis, and low-density lipoproteins in apolipoprotein E knockout mice. Mol Med. 2003;9:10-7 pubmed..The early phase of lesion development was increased, and the proteolytic and procoagulant activity was elevated in advanced lesions. These data show that IL-10 may reduce atherogenesis and improve the stability of plaques. ..
- Delarasse C, Daubas P, Mars L, Vizler C, Litzenburger T, Iglesias A, et al. Myelin/oligodendrocyte glycoprotein-deficient (MOG-deficient) mice reveal lack of immune tolerance to MOG in wild-type mice. J Clin Invest. 2003;112:544-53 pubmed..This total lack of immune tolerance to MOG in WT C57BL/6 mice may be responsible for the high pathogenicity of the anti-MOG immune response as well as the high susceptibility of most animal strains to MOG-induced EAE. ..
- Baulac S, Gourfinkel An I, Nabbout R, Huberfeld G, Serratosa J, LeGuern E, et al. Fever, genes, and epilepsy. Lancet Neurol. 2004;3:421-30 pubmed..The molecular defects identified in the genetic associations of FS and epileptic seizures are very attractive models to aid our understanding of epileptogenesis and susceptibility to seizure-provoking factors, especially fever. ..
- Netchine I, Rossignol S, Dufourg M, Azzi S, Rousseau A, Perin L, et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab. 2007;92:3148-54 pubmed..The 11p15 ICR1 epimutation is a major, specific cause of RSS exhibiting failure to thrive. We propose a clinical scoring system (including a BMI < -2 SDS), highly predictive of 11p15 ICR1 LOM, for the diagnosis of RSS. ..
- Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007;44:763-71 pubmed..Although some associated features appear to be characteristic of a specific gene, no simple rule exists to distinguish NS from CFC easily. ..
- Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008;131:772-84 pubmed..In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype. ..
- Roseaulin L, Yamada Y, Tsutsui Y, Russell P, Iwasaki H, Arcangioli B. Mus81 is essential for sister chromatid recombination at broken replication forks. EMBO J. 2008;27:1378-87 pubmed publisher..These findings demonstrate that Mus81/Eme1 is the dedicated endonuclease that resolves sister chromatid recombination intermediates during the repair of broken replication forks. ..
- Colisson R, Barblu L, Gras C, Raynaud F, Hadj Slimane R, Pique C, et al. Free HTLV-1 induces TLR7-dependent innate immune response and TRAIL relocalization in killer plasmacytoid dendritic cells. Blood. 2010;115:2177-85 pubmed publisher..This is the first demonstration of an innate immune response induced by free HTLV-1. ..
- Solis C, Santi Rocca J, Perdomo D, Weber C, Guillen N. Use of bacterially expressed dsRNA to downregulate Entamoeba histolytica gene expression. PLoS ONE. 2009;4:e8424 pubmed publisher..histolytica. This dsRNA delivery method is also technically suitable for the study of a large number of genes, thus opening interesting perspectives for the identification of novel drug and vaccine targets. ..
- Milet J, Nuel G, Watier L, Courtin D, Slaoui Y, Senghor P, et al. Genome wide linkage study, using a 250K SNP map, of Plasmodium falciparum infection and mild malaria attack in a Senegalese population. PLoS ONE. 2010;5:e11616 pubmed publisher..Furthermore, we detected one gene associated with malaria infection in the 5q31-q33 region. ..
- Vernet C, Redolfi S, Attali V, Konofal E, Brion A, Frija Orvoen E, et al. Residual sleepiness in obstructive sleep apnoea: phenotype and related symptoms. Eur Respir J. 2011;38:98-105 pubmed publisher..The association between RES, periodic leg movements, apathy and depressive mood parallels the post-hypoxic lesions in noradrenaline, dopamine and serotonin systems in animals exposed to intermittent hypoxia. ..
- Bahi Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, et al. Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A. 2012;158A:1612-9 pubmed publisher..It is important for clinicians to have this information when such patients are diagnosed...
- Helias V, Saison C, Peyrard T, Vera E, Prehu C, Cartron J, et al. Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1. Hum Mutat. 2013;34:221-8 pubmed publisher..This biochemical and genetic analysis of the In(Lu) blood type tackles the phenotypic outcome of haploinsufficiency for a transcription factor. ..
- Khammas K, Ageron E, Grimont P, Kaiser P. Azospirillum irakense sp. nov., a nitrogen-fixing bacterium associated with rice roots and rhizosphere soil. Res Microbiol. 1989;140:679-93 pubmed..The seven studied strains formed a DNA-relatedness group distinct from other Azospirillum and Herbaspirillum species. The G + C content of the DNA was 64 to 67 mol %. The type strain is KBC1 (CIP 103311)...
- Springer M, Graffe M, Dondon J, Grunberg Manago M. tRNA-like structures and gene regulation at the translational level: a case of molecular mimicry in Escherichia coli. EMBO J. 1989;8:2417-24 pubmed
- Pham A, Therond P, Alves G, Tournier F, Busson D, Lamour Isnard C, et al. The Suppressor of fused gene encodes a novel PEST protein involved in Drosophila segment polarity establishment. Genetics. 1995;140:587-98 pubmed..These results, together with previous genetic and molecular data, suggest that fused and Suppressor of fused could act through a competitive posttraductionnal modification of a common target in the hedgehog signaling pathway. ..
- Savagner P, Valles A, Jouanneau J, Yamada K, Thiery J. Alternative splicing in fibroblast growth factor receptor 2 is associated with induced epithelial-mesenchymal transition in rat bladder carcinoma cells. Mol Biol Cell. 1994;5:851-62 pubmed..Such transfected cells could bind bFGF as well as aFGF. Therefore, EMT can be induced through different FGF receptors, but EMT may also regulate FGF receptor expression itself. ..
- Colomb E, Nguyen T, Bechetoille A, Dascotte J, Valtot F, Brezin A, et al. Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma. Clin Genet. 2001;60:220-5 pubmed..Its typing might help in the selection of treatment paradigms for the management of POAG patients. ..
- Sidi S, Goutel C, Peyrieras N, Rosa F. Maternal induction of ventral fate by zebrafish radar. Proc Natl Acad Sci U S A. 2003;100:3315-20 pubmed..They might further indicate that maternal TGF-betaRdr and WntCa(2+) pathways complementarily specify ventral cell fates, with the former triggering bmps expression and the latter indirectly repressing genes encoding BMP antagonists. ..
- Imai K, Nonoyama S, Ochs H. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol. 2003;3:427-36 pubmed
- 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. ..
- Acquaviva C, Benoist J, Pereira S, Callebaut I, Koskas T, Porquet D, et al. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat. 2005;25:167-76 pubmed..shermanii enzyme. In this work we update the spectrum of MCM mutations (n=84), and then discuss their prevalence and distribution throughout the coding sequence in relation to the enzyme structure. ..
- Li H, Bourdelas A, Carron C, Gomez C, Boucaut J, Shi D. FGF8, Wnt8 and Myf5 are target genes of Tbx6 during anteroposterior specification in Xenopus embryo. Dev Biol. 2006;290:470-81 pubmed..Our results therefore identify a regulatory cascade governed by Tbx6 in the specification of posterior mesoderm during Xenopus early development. ..
- Stevanin G, Montagna G, Azzedine H, Valente E, Durr A, Scarano V, et al. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics. 2006;7:149-56 pubmed..Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy. ..
- Khalfallah O, Faucon Biguet N, Nardelli J, Meloni R, Mallet J. Expression of the transcription factor Zfp191 during embryonic development in the mouse. Gene Expr Patterns. 2008;8:148-54 pubmed..Interestingly, its expression levels were prominent in areas of proliferation such as the subventricular zone. Zfp191 expression pattern during development can account for the phenotypic features of Zfp191(-/-) embryos. ..
- Drieux L, Brossier F, Sougakoff W, Jarlier V. Phenotypic detection of extended-spectrum beta-lactamase production in Enterobacteriaceae: review and bench guide. Clin Microbiol Infect. 2008;14 Suppl 1:90-103 pubmed..Since extended-spectrum Ambler class D oxacillinases are weakly inhibited by clavulanate and not inhibited by EDTA, their detection is difficult in the routine laboratory. ..
- Moldrich R, Laine J, Visel A, Beart P, Laffaire J, Rossier J, et al. Transmembrane protein 50b (C21orf4), a candidate for Down syndrome neurophenotypes, encodes an intracellular membrane protein expressed in the rodent brain. Neuroscience. 2008;154:1255-66 pubmed publisher..Results indicate that Tmem50b is a developmentally-regulated intracellular ER and Golgi apparatus membrane protein that may prove important for correct brain development through functions associated with precursor cells and glia. ..
- Bahi Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, et al. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol. 2008;50:945-9 pubmed publisher..Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy...