562 results on '"Fellous, Marc"'
Search Results
202. XY Sex reversal associated with a nonsense mutation in SRY
- Author
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McElreavey, Ken D., primary, Vilain, Eric, additional, Boucekkine, Chafika, additional, Vidaud, Michel, additional, Jaubert, François, additional, Richaud, François, additional, and Fellous, Marc, additional
- Published
- 1992
- Full Text
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203. A protein from Daudi cell line conditioned medium induces ovarian dysgenesis in Drosophila melanogaster
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Richard‐Mercier, Noëlle, primary, Thomas‐Orillard, Michèle, additional, Morinière, Madeleine, additional, Porcheron, Patrick, additional, Soyez, Daniel, additional, and Fellous, Marc, additional
- Published
- 1992
- Full Text
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204. A Protein Tyrosine Kinase in the Interferon α/β Signaling Pathway.
- Author
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Velazquez, Laura, Fellous, Marc, Stark, George R., and Pellegrini, Sandra
- Subjects
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PROTEIN-tyrosine kinases , *INTERFERONS , *HUMAN cloning , *CELL lines , *CYTOPLASM - Abstract
The mutant human cell line 11,1 is unresponsive to interferon a. Here we describe the genetic complementatlon of this mutant and the Identification and cloning of the wild-type gene that corrects the defect. Using transtection with genomic DNA in conjunction with a powerful back-selection, we isolated a cosmid that reveils the mutant phenotype of 11,1 cells. The cosmid encodes a single message whose level is greatly reduced in mutant cells. Complementary DNA5 were cloned and found to be virtually Identical to tyk2, a humafl mRNA encoding a non-receptor protein tyrosine kinase of previously unknown function. This finding shows that fyk2 links the interferon α/β receptor to the cytoplasmic transcription factor that mediates activation of interferon-responsive genes. [ABSTRACT FROM AUTHOR]
- Published
- 2011
205. The transcription factor FOXL2 in ovarian function and dysfunction.
- Author
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De Baere, Elfride, Fellous, Marc, and Veitia, Reiner A.
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GENETICS ,GENETIC transcription ,OVARY abnormalities ,GENE expression ,GENETIC disorders - Abstract
The Blepharophimosis Ptosis Epicanthus-inversus Syndrome is a genetic disease characterized by complex eyelid malformations often associated with premature ovarian failure (POF). BPES is basically an autosomal dominant disease, due to mutations in the FOXL2 gene, which encodes a forkhead transcription factor. More than one hundred mutations of FOXL2 have been described to date. In agreement with the BPES phenotype, FOXL2 is expressed (though not exclusively) in the developing eyelids and in fetal and adult ovaries. Two mouse knock-out models have been produced. They recapitulate the BPES phenotype and have provided insights into the pathology. Loss-of-function mutations in FOXL2 are predicted to lead to BPES and POF, while hypomorphic mutations might lead to BPES without ovarian dysfunction. However, exceptions to the genotype-phenotype correlation have been described. To better understand the pathogenic effect of these mutations it is crucial to study the normal regulation of FOXL2 and its targets. We briefly address these aspects in this review and hope that basic research around FOXL2 will eventually lead to uncover new therapeutic avenues. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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206. Absence of mutations involving the gene in human idiopathic cryptorchidism.
- Author
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Krausz, Csilla, Quintana-Murci, Lluis, Fellous, Marc, Siffroi, Jean-Pierre, and McElreavey, Ken
- Abstract
Investigates the sequences of both exons of the human INSL3 gene in men with idiopathic unilateral or bilateral cryptorchidism. Amino acid substitution in the C-peptide of the molecule; Gene mutation; Causes of cryptorchidism.
- Published
- 2000
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207. Ullrich-Turner Syndrome: Relevance of Searching for Y Chromosome Fragments.
- Author
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Damiani, Durval, Guedes, Dulce Rondina, Fellous, Marc, Barbaux, Sandrine, McElreavey, Ken, Kalil, Jorge, T. Goldberg, Anna Carla, Moreira-Filho, Carlos Alberto, Barbosa, Angela, Manna, Thais Delia, Dichtchekenian, Vae, and Setian, Nuvarte
- Published
- 1999
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208. HLA class I genes integrated into murine cells are inducible by interferon.
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Rosa, Frédéric, Le Bouteiller, Philippe P., Abadie, Annie, Mishal, Zohair, Lemonnier, François A., Bourrel, Dominique, Lamotte, Michel, Kalil, Jorge, Jordan, Bertrand, and Fellous, Marc
- Published
- 1983
- Full Text
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209. Enhanced expression of HLA antigens and β.
- Author
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Fellous, Marc, Kamoun, Malek, Bone, Rosa, and Gresser, Ion
- Published
- 1979
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210. Activation of the protein tyrosine kinase tyk2 by interferon α/β.
- Author
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Barbieri, Giovanna, Velazquez, Laura, Scrobogna, Marina, Fellous, Marc, and Pellegrini, Sandra
- Subjects
PROTEIN-tyrosine kinases ,INTERFERONS ,GENETIC mutation ,DNA ,CELLS ,PHOSPHORYLATION - Abstract
We previously demonstrated that the gene tyke rescues the phenotype of a human mutant cell line unresponsive to α (IFN) and partially responsive to IFN-β. Here, we describe functional complementation of the mutant cells with the corresponding cDNA. To characterize the putative non-receptor protein tyrosine kinase encoded by the gene tyke and begin to understand its functioning, we have raised polyclonal antibodies against a segment of the protein. Using these, we have identified tyke as a 134-kDa protein which is rapidly and transiently phosphorylated on tyrosine in response to IFN-α/β and possesses an inducible kinase activity when tested in vitro. IFN-γ has no effect on the phosphorylation state of the protein. In agreement with previous genetic evidence, these results assign a role to tyke in the IFN-α/β signaling pathway and not in the IFN-γ pathway. Fractionation of cell lysates have helped to localize the bulk of the protein in the cytoplasm, with a minor fraction associated with the cell membrane. Both protein pools undergo activation upon short-term IFN treatment of intact cells. Through the study of the effect of pervanadate on the phosphorylation level and the activity of tyke, we conclude that activation of tyke by IFN-α does not require an intermediate regulatory tyrosine phosphatase. [ABSTRACT FROM AUTHOR]
- Published
- 1994
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211. Preferential effect of γ interferon on the synthesis of HLA antigens and their mRNAs in human cells.
- Author
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Wallach, David, Fellous, Marc, and Revel, Michel
- Published
- 1982
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212. A monoclonal antibody against a Burkitt lymphoma associated antigen has an anti-Pk red blood cell specificity.
- Author
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Fellous, Marc, Cartron, Jean-Pierre, Wiels, Joelle, and Tursz, Thomas
- Published
- 1985
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213. Presence of an abnormal β-microglobulin mRNA in Daudi cells: Induction by interferon.
- Author
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Rosa, Frédéric, Fellous, Marc, Dron, Michel, Tovey, Michael, and Revel, Michel
- Abstract
Human α and β interferons increase the amount of class I human histocompatibility messenger RNA HLA-A, B, C and β-microglobulin in most human cells studied to date. This report concerns the effect of interferons on the Burkitt lymphoma-derived cell line Daudi, which does not express HLA-A, B, C antigens or β-microglobulin on its membrane. HLA-A, B, C messenger RNA present in Daudi cells is increased by both α and β interferons. Furthermore, we have shown that although it was not possible to detect mature β-microglobulin protein in the cytoplasm or on the cell membrane of Daudi cells, a poly A messenger RNA is present in Daudi cells, which hybridizes with a cDNA clone specific for human β-microglobulin. This abnormal messenger RNA is, however, increased normally by interferon. These effects were also observed with human interferon β on a variant of Daudi cells characterized by a markedly reduced sensitivity to anti-proliferative and anti-cellular effects of human interferon α.[/p] [ABSTRACT FROM AUTHOR]
- Published
- 1983
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214. Monoclonal antibodies as a tool for phylogenetic studies of major histocompatibility antigens and β-microglobulin.
- Author
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Teillaud, Jean-Luc, Crevat, Denis, Chardon, Patrick, Kalil, Jorge, Goujet-Zalc, Cécile, Mahouy, Guy, Vaiman, Marcel, Fellous, Marc, and Piou, Donald
- Abstract
The cross-reactivity of several monoclonal antibodies recognizing monomorphic determinants of human HLA-A, B, C, and DR antigens and human β2-microglobulin ( β2m) has been studied on peripheral blood leukocytes in 24 different species. An monoclonal HLA-A-, B-, and C-specific antibody and four monoclonal HLA-DR-specific antibodies cross-reacted with cells from all the primate species tested. Furthermore, antibodies HLA-DR-specific were positive with peripheral blood leukocytes (PBL) from cows, goats, sheep, horses, and dogs. Two monoclonal β2m-specific antibodies, which were positive with PBL from certain primates, also reacted with cells from cows, goats, sheep, horses, and dogs. Two other #2m-specific antibodies reacted only with PBL from chimpanzees. No reaction could be detected with all our reagents in other classes tested (birds, reptiles, amphibians, and Teleostei). [ABSTRACT FROM AUTHOR]
- Published
- 1982
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215. Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.
- Author
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Ion, Ruxandra, Telvi, L., Chaussain, Jean-Louis, Barbet, Jacques Patrick, Nunes, Manoel, Safar, Anne, Réthoré, Marie-Odile, Fellous, Marc, and McElreavey, Ken
- Abstract
In 46,XY individuals, testes are determined by the activity of the SRY gene (sex-determining region Y), located on the short arm of the Ychromosome. The other genetic components of the cascade that leads to testis formation are unknown and may be located on the Xchromosome or on the autosomes. Evidence for the existence of several loci associated with failure of male sexual development is indicated by reports of 46,XY gonadal dysgenesis associated with structural abnormalities of the Xchromosome or of autosomes (chromosomes9, 10, 11 and 17). In this report, we describe the investigation of a child presenting with multiple congenital abnormalities, mental retardation and partial testicular failure. The patient had a homogeneous de novo 46,XY,inv dup(9)(pter→p24.1::p21.1 →p23.3::p24.1→qter) chromosome complement. No deletion was found by either cytogenetic or molecular analysis. The SRY gene and DSS region showed no abnormalities. Southern blotting dosage analysis with 9p probes and fluorescent in situ hybridisation data indicated that the distal breakpoint of the duplicated fragment was located at 9p24.1, proximal to the SNF2 gene. We therefore suggest that a gene involved in normal testicular development and/or maintenance is present at this position on chromosome 9. [ABSTRACT FROM AUTHOR]
- Published
- 1998
- Full Text
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216. Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.
- Author
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Tar, Attila, Sólyom, János, Györvári, Borbála, Ion, Alexandra, Telvi, Louise, Barbaux, Sandrine, Souleyreau, Nicole, Vilain, Eric, Fellous, Marc, and McElreavey, Ken
- Abstract
A case of a true hermaphrodite presenting with a karyotype of 46,X,del(X)(p21.1→pter) is described. The testis-determining gene, SRY, was not detected in DNA prepared from either peripheral blood lymphocytes or from a gonad biopsy. The patient also presented with a series of discrete somatic abnormalities, including abnormal skin and retinal pigmentation, and mental retardation. The extent of the Xp deletion was mapped by Southern blotting. X chromosome replication studies of lymphoblast cells prepared from the patient indicated that the deleted X chromosome was inactivated in all cells examined. It is suggested that the phenotype of the patient is caused by the unmasking of a recessive allele(s) on the grossly intact X chromosome. The relationship between the Xp deletion, the intersex phenotype, and the possible role of an Xp locus involved in human sex determination is discussed. [ABSTRACT FROM AUTHOR]
- Published
- 1995
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217. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.
- Author
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McElreavey, Ken, Rappaport, Raphaël, Vilain, Eric, Abbas, Nacer, Richaud, François, Lortat-Jacob, Stéphen, Berger, Roland, LeConiat, Maryvonne, Boucekkine, Chafika, Kucheria, Kiran, Temtamy, Samia, Nihoul-Fekete, Claire, Brauner, Raja, and Fellous, Marc
- Abstract
A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases. [ABSTRACT FROM AUTHOR]
- Published
- 1992
- Full Text
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218. A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.
- Author
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Abbas, Nacer, Novelli, Giuseppe, Stella, Narcisio, Triolo, Onofrio, Corrado, Francesco, Fellous, Marc, Chery, Michèle, Gilgenkrantz, Simone, and Dallapiccola, Bruno
- Abstract
A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism. Lymphocyte DNA from this patient was found to contain Yp chromosome sequences. In situ hybridization (ISH) with the 50f2 probe led to a clear assignment of euchromatic material on the short arm of chromosome 1. This observation and others from the literature argue in favour of the conclusion that all 45.X males are probably either the result of undetected mosaicism or are carriers of Y translocated material. [ABSTRACT FROM AUTHOR]
- Published
- 1990
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219. Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome.
- Author
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Damiani, Durval, Billerbeck, Ana, Goldberg, Anna, Setian, Nuvarte, Fellous, Marc, and Kalil, Jorge
- Abstract
Four patients with 46,XX true hermaphroditism and one patient with 46,XY pure gonadal dysgenesis (Swyer syndrome) were analyzed with a Y chromosome-derived probe that detects a specific fragment on the short arm of the Y chromosome in the putative testicle-determining region and also a fragment on the short arm of the X chromosome. Normal males and females, an individual with Turner syndrome, and patients with various causes of anomalous gonadal differentiation accompanied by cytogenetically present Y chromosome were used as controls. The Y-specific fragment was not detected in any of the persons with 46,XX true hermaphroditism. However, this fragment was positive in the 46,XY female and in all Y-bearing patients. Cytogenetic and molecular absence of the ZFY sequence in 46,XX true hermaphrodites calls for explanations other than the classic embryogenie theory. The absence of testicular differentiation in the ZFY-positive XY female evidences functionally altered sex determination or, alternatively, defective gonadal receptors. [ABSTRACT FROM AUTHOR]
- Published
- 1990
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220. A possible common origin of 'Y-negative' human XX males and XX true hermaphrodites.
- Author
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Abbas, Nacer, Toublanc, Jean, Boucekkine, Chafika, Toublanc, Marianne, Affara, Nabeel, Job, Jean-Claude, and Fellous, Marc
- Abstract
We have studied nine patients aged 1 month to 16 years with 46, XX karyotypes and testicular tissue. Some of these patients were followed through puberty. Phenotypically, two presented normal and seven abnormal external genitalia (AG). Among this latter group, four showed hypospadias and three true hermaphroditism (TH). The endocrine data were similar in all three groups: testosterone levels were within normal limits during puberty, decreasing in adulthood; gonadotrophin levels were above the control values at mid puberty. Histologies of the two sub groups of AG patients were identical up to 5 years of age and presented differences when compared with controls, regardless of the ovarian part of the ovotestis. However, in patients older than 8 years, germ cells disappeared and dysgenesis became obvious. In one patient, the ovarian zone of the gonad was detected only after complete serial sections of the removed gonad were examined. Southern blot analysis with Y-DNA probes displayed Y-specific material for the classic 46 XX males and a lack of such sequences for all patients with AG and TH. Based on these findings, we postulate that 46, XX males with AG and 46, XX TH may represent altenative manifestations of the same genetic defect. These data together with those concerning familial cases of 46, XX males with AG and 46, XX TH suggest an autosomally (or pseudoautosomally) determined mechanism. [ABSTRACT FROM AUTHOR]
- Published
- 1990
- Full Text
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221. Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe.
- Author
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Magenis, R., Casanova, Myriam, Fellous, Marc, Olson, Susan, and Sheehy, Robert
- Abstract
Chromosome preparations from seven subjects with aberrations of sex chromosomes were utilized for in situ hybridization studies with the tritium-labeled Y-derived probe p50f. Two subjects had a pseudodicentric chromosome consisting of two copies of Yp and a portion of Y long arm; two were XX males [46,XX,t(Xp;Yp)], one was missing part of the Y short arm, and another had t(5p;Yq); in addition cells from an XYY male as well as a normal 46,XY male, and a 46,XX female, were hybridized with the same probe. The hybridization technique of Harper and Saunders (1981) was used. There was excess labeling of the Yp/paracentromeric regions in the cases with the normal Y, the XYY, the pseudodicentric Y, and the 5/Y translocation. No significant label was seen on metaphases from the normal 46,XX female or the female with the partially missing Y short arm. Excess label was present on the X short arm in the cases of the XX males; there were 8% and 9.5% of cells with label. The combined cytogenetic and hybridization data indicate that one X short arm in these XX males has undergone a translocation with Yp, and that genes for sex determination probably reside on the distal half of the Y short arm. [ABSTRACT FROM AUTHOR]
- Published
- 1987
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222. Mutations and sequence variants in GDF9and BMP15in patients with premature ovarian failure
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Laissue, Paul, Christin-Maitre, Sophie, Touraine, Philippe, Kuttenn, Frederique, Ritvos, Olli, Aittomaki, Kristiina, Bourcigaux, Nathalie, Jacquesson, Laetitia, Bouchard, Philippe, Frydman, Rene, Dewailly, Didier, Reyss, Anne-Céline, Jeffery, Luke, Bachelot, Anne, Massin, Nathalie, Fellous, Marc, and Veitia, Reiner A
- Abstract
Background and objective: Mutations in bone morphogenic protein 15 (BMP15) and growth/differentiation factor 9 (GDF9) lead to altered fertility in animal models. In the human, a heterozygous point mutation of BMP15has been associated with premature ovarian failure (POF).Subject and methods: We have directly sequenced both genes in a cohort of 203 POF patients presenting with primary or secondary amenorrhea and high FSH levels and in a control population including 54 women with regular menstrual cycles who had at least one child.Results: We have identified several heterozygous variants. One alteration in GDF9 (S186Y) and one in BMP15 (L148P) may have pathogenic effects as both positions are conserved in vertebrate species, ranging from the chicken to mammals. These variants were absent in the control samples. We also found synonymous and neutral substitutions.Conclusions: We propose that although mutations in BMP15and GDF9are not a major cause of ovarian insufficiency, they may be involved in POF.
- Published
- 2006
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223. An evolutionary and functional analysis of FoxL2in rainbow trout gonad differentiation
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Baron, Daniel, Cocquet, Julie, Xia, Xuhua, Fellous, Marc, Guiguen, Yann, and Veitia, Reiner A
- Abstract
FOXL2is a forkhead transcription factor involved in ovarian development and function. Here, we have studied the evolution and pattern of expression of the FOXL2gene and its paralogs in fish. We found well conserved FoxL2sequences (FoxL2a) and divergent genes, whose forkhead domains belonged to the class L2 and were shown to be paralogs of the FoxL2asequences (named FoxL2b). In the rainbow trout, FoxL2aand FoxL2bwere specifically expressed in the ovary, but displayed different temporal patterns of expression. FoxL2aexpression correlated with the level of aromatase, the key enzyme in estrogen production, and an estrogen treatment used to feminize genetically male individuals elicited the up-regulation of both paralogs. Conversely, androgens or an aromatase inhibitor down-regulated FoxL2aand FoxL2bin females. We speculate that there is a direct link between estrogens and FoxL2expression in fish, at least during the period where the identity of the gonad is sensitive to hormonal treatments.
- Published
- 2004
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224. MHC class II-deficient tumor cell lines with a defective expression of the class II transactivator.
- Author
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Naves, Rodrigo, Lennon, Ana Maria, Barbieri, Giovanna, Reyes, Lilian, Puga, Gisella, Salas, Laura, Deffrennes, Virginie, Rosemblatt, Mario, Fellous, Marc, Charron, Dominique, Alcaïde-Loridan, Catherine, and Bono, Maria Rosa
- Abstract
MHC class II expression defects have been evidenced in several human tumor cell lines originating from lung cancers or retinoblastoma. Accordingly, the mouse adenocarcinoma and fibrosarcoma cell lines, RAG and L(tk-), do not express I-A and I-E molecules even when treated with IFN-gamma. Here we show that fusion of both cell lines restores the inducible expression of MHC class II, thereby demonstrating that they present different and recessive alterations outside the MHC class II locus. CIITA, the MHC class II transactivator, controls the tissue-specific expression of MHC class II genes and creates the architecture of the transcriptional complex that binds to the MHC class II gene promoters. In L(tk-) cells, C2ta transcripts, expressed from the gene encoding CIITA, were indeed detected in severely limited amounts, with a defect in C2ta transcription initiation. In agreement we show here that the L(tk-) cell line does not express the CIITA protein. In contrast, in the RAG cell line, C2ta transcripts were expressed at normal levels, from the proper initiation site. The nucleotide sequencing of the CIITA cDNA from RAG did not reveal any mutation. However, the CIITA protein was not detected. These data evidence a new type of defect in a MHC class II-defective tumor cell line, as we show here that the alteration in the RAG cells occurs downstream of C2ta transcription. The RAG mutation might therefore reside in the C2ta transcript nuclear export or translation, or in the stability of the CIITA protein.
- Published
- 2002
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225. Transduction of the Human Gene FAM8A1by Endogenous Retrovirus During Primate Evolution
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Jamain, Stéphane, Girondot, Marc, Leroy, Pascale, Clergue, Michel, Quach, Hélène, Fellous, Marc, and Bourgeron, Thomas
- Abstract
Capture of cellular mRNA by mobile elements has been an evolutionary catalyst for the spread of genes and a cause of cancer development. Here we present evidence that an orphan gene, FAM8A1(family with sequence similarity 8), was captured by a retrovirus, followed by multiple retrotransposition events, during primate evolution between 45 and 58 million years ago. This represents the first record of cellular mRNA transduction in humans. The human gene is localized on chromosome 6p23 with five related pseudogenes (FAM8A2P–A6P), each inserted within a human endogenous retrovirus (HERV). Only the functional FAM8A1gene is expressed and displays a ubiquitous mRNA and a testis-specific transcript present in the haploid phase of spermatogenesis.The structural features of the FAM8A1pseudogenes include two short sequences of similarity between the FAM8A1mRNA and the HERV sequences at both the 5′ and 3′ integration sites. These hallmarks suggest an alternative model to account for the capture of FAM8A1cellular mRNA by HERV-K, involving illegitimate recombination events at the two sites of sequence similarity during reverse transcription. Unlike previous models, which assume at least one step of retroviral integration in the genome, our model is consistent with in vitroobservations showing that multiple template switches occur among packaged viral transcripts. This leads to the speculation that, in some cases, cellular mRNAs may have been captured through similar processes involved in the retroviral life cycle.
- Published
- 2001
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226. Identification of the Human KIF13A Gene Homologous to Drosophilakinesin-73 and Candidate for Schizophrenia
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Jamain, Stéphane, Quach, Hélène, Fellous, Marc, and Bourgeron, Thomas
- Abstract
Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of Drosophilakinesin-73. Several alternative transcripts are differentially expressed in human tissues, probably reflecting differences in cargo binding and transport of corresponding proteins. During early mouse development, its homologue (Kif13A) is expressed essentially in the central nervous system. In Caenorhabditis elegans,the unc-104 gene is involved in axonal anterograde transport, and null mutants present several behavioral defects. The putative function and genomic localization of KIF13A make this gene an interesting candidate for genetic predisposition to schizophrenia. We provide sequences of 20 single-nucleotide polymorphisms localized within KIF13A to test for association studies between this gene and schizophrenia.
- Published
- 2001
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227. Andrology. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions
- Author
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Siffroi, Jean Pierre, Le Bourhis, Corine, Krausz, Csilla, Barbaux, Sandrine, Quintana-Murci, Luis, Kanafani, Samia, Rouba, Hassan, Bujan, Louis, Bourrouillou, Georges, Seifer, Isabelle, Boucher, Daniel, Fellous, Marc, McElreavey, Ken, and Dadoune, Jean Pierre
- Abstract
Microdeletions of the long arm of the Y chromosome (Yq) are a common cause of male infertility. Since large structural rearrangements of the Y chromosome are commonly associated with a 45,XO/46,XY chromosomal mosaicism, we studied whether submicroscopic Yq deletions could also be associated with the development of 45,XO cell lines. We studied blood samples from 14 infertile men carrying a Yq microdeletion as revealed by polymerase chain reaction (PCR). Patients were divided into two groups: group 1 (n = 6), in which karyotype analysis demonstrated a 45,X/46,XY mosaicism, and group 2 (n = 8) with apparently a normal 46,XY karyotype. 45,XO cells were identified by fluorescence in-situ hybridization (FISH) using X and Y centromeric probes. Lymphocytes from 11 fertile men were studied as controls. In addition, sperm cells were studied in three oligozoospermic patients in group 2. Our results showed that large and submicroscopic Yq deletions were associated with significantly increased percentages of 45,XO cells in lymphocytes and of sperm cells nullisomic for gonosomes, especially for the Y chromosome. Moreover, two isodicentric Y chromosomes, classified as normal by cytogenetic methods, were detected. Therefore, Yq microdeletions may be associated with Y chromosomal instability leading to the formation of 45,XO cell lines.
- Published
- 2000
228. sY116, a human Y-linked polymorphic STS
- Author
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Saifi, G., Veitia, Reiner, El Khil, Houssein, Barbaux, Sandrine, Tilak, Preetha, Thomas, I., and Fellous, Marc
- Abstract
Abstract: During a study of deletions of Y-chromosomal DNA in infertile males, sY116, a Y-linked STS, showed different electrophoretic mobilities in three males, two infertile and one fertile. A study of this STS among 35 other normal males showed that this locus is polymorphic. sY1 16 has a polyA-rich stretch whose instability appears to be the most likely cause of this polymorphism. The possible usefulness of sY116 polymorphism in the detection of subtle genome-wide instabilities in some types of cancer is discussed.
- Published
- 2000
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229. A study of the coregulation and tissue specificity of XGand MIC2gene expression in eukaryotic cells
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Fouchet, Claude, Gane, Pierre, Huet, Martine, Fellous, Marc, Rouger, Philippe, Banting, George, Cartron, Jean-Pierre, and Lopez, Claude
- Abstract
CD99, the product of the MIC2gene, exhibits an erythroid-specific quantitative polymorphism coregulated with the polymorphism of the XG blood group gene. As a preliminary study of this phenomenon, human XG and CD99 recombinant proteins were expressed in murine RAG cells and analyzed by flow cytometry. Both proteins were expressed independently and at a similar level in single and double transfectants. Immunoprecipitation and Western blot analysis, using the murine monoclonal antibodies NBL-1 and 12E7, revealed species of 26 kd (XG) and 32 kd (CD99), respectively. A putative 28-kd intracellular precursor of CD99 was also detected, as was a 26-kd species after neuraminidase treatment of CD99-expressing cells. No evidence of association or complex formation between XG and CD99 proteins could be proven, either on transfected RAG cells or on human erythrocytes. These results were confirmed using somatic hybrids between single transfectants. These findings suggest that the phenotypic relationship between XG and CD99 is mostly regulated at the transcriptional level, but they do not formally exclude some posttranscriptional effect. Studies on the tissue specificity of XGexpression showed that surface expression of the XG protein could not be restored in somatic hybrids between B-lymphoblastoid cell lines from Xg(a+) persons and fibroblasts (RAG) or erythroid (MEL) cells. RT-PCR analysis of the transcripts revealed the existence of an XGmRNA in each cell line, suggesting that the tissue-specific regulation of cell surface XG expression occurs either at a quantitative transcriptional level or is a posttranscriptional event. By Northern blot analysis,XGtranscripts were detected in erythroid tissues and several nonerythroid tissues.
- Published
- 2000
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230. The Human Doublesex-Related Gene, DMRT2,Is Homologous to a Gene Involved in Somitogenesis and Encodes a Potential Bicistronic Transcript
- Author
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Ottolenghi, Chris, Veitia, Reiner, Barbieri, Marcello, Fellous, Marc, and McElreavey, Ken
- Abstract
Intense efforts are currently being pursued to identify autosomal genes associated with 46,XY male-to-female sex reversal. The genes DMRT1and 2are located on distal 9p, a region deleted in 46,XY sex-reversed patients. They are considered excellent candidates because of their homology to regulators of sex development in invertebrates. We present the genomic structure of DMRT2,showing that it generates several transcripts with distinct coding potential. In addition to the previously reported 226-amino-acid protein-encoding transcript, we describe other mRNA isoforms that are potentially bicistronic and are predicted to encode an additional 328-amino-acid polypeptide. Finally, a stop codon-containing exon (exon 4) can be skipped by alternative splicing and can generate a transcript that is predicted to encode a fusion protein. The latter shares 58% amino acid identity with a gene recently described in fish, termed terra.Differences in expression pattern exist for DMRT2mRNA isoforms among the human adult tissues tested, between adult tissues and human embryos, and between DMRT2and DMRT1during embryonic development. We failed to detect mutations by sequencing of DMRT2in a sample of 46,XY female patients. The interesting structure of DMRT2coupled to preliminary functional studies in fish showing that terrais involved in somitogenesis suggests that validation or exclusion of this gene as a cause of sex reversal will require more in-depth investigations.
- Published
- 2000
- Full Text
- View/download PDF
231. Larotrectinib versus Prior Therapies in Tropomyosin Receptor Kinase Fusion Cancer: An Intra-Patient Comparative Analysis.
- Author
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Italiano, Antoine, Nanda, Shivani, Briggs, Andrew, Garcia-Foncillas, Jesus, Lassen, Ulrik, Vassal, Gilles, Kummar, Shivaani, van Tilburg, Cornelis M., Hong, David S., Laetsch, Theodore W., Keating, Karen, Reeves, John A., Fellous, Marc, Childs, Barrett H., Drilon, Alexander, and Hyman, David M.
- Subjects
CANCER patients ,CONFIDENCE intervals ,HETEROCYCLIC compounds ,MUSCLE proteins ,RESEARCH ,TUMORS ,RETROSPECTIVE studies ,PROTEIN kinase inhibitors ,KAPLAN-Meier estimator - Abstract
Simple Summary: Clinical trials for new drugs to treat rare diseases are difficult to evaluate due to the limited patient population available for recruitment. Growth modulation index (GMI) is a very useful tool in these instances, as this calculation compares the patient's outcome on the current drug to the same patient's outcome on their most recent prior therapy, using the patient as their own control. GMI is the ratio of progression-free survival on the current therapy to time to progression on the last prior line of therapy and offers a method to determine if the investigational drug provides a benefit compared to the patient's last prior treatment. Using a GMI ≥ 1.33 as the threshold of meaningful clinical activity, we found that larotrectinib, a tropomyosin receptor kinase (TRK) inhibitor approved to treat patients with TRK fusion cancer, improves progression-free survival for most patients with TRK fusion cancer compared with prior therapy. Randomized controlled basket trials investigating drugs targeting a rare molecular alteration are challenging. Using patients as their own control overcomes some of these challenges. Growth modulation index (GMI) is the ratio of progression-free survival (PFS) on the current therapy to time to progression (TTP) on the last prior line of therapy; GMI ≥ 1.33 is considered a threshold of meaningful clinical activity. In a retrospective, exploratory analysis among patients with advanced tropomyosin receptor kinase (TRK) fusion cancer treated with the selective TRK inhibitor larotrectinib who received ≥1 prior line of therapy for locally advanced/metastatic disease, we determined the proportion of patients with GMI ≥ 1.33; patients who had not progressed by data cut-off were censored for PFS. Among 72 eligible patients, median GMI was 2.68 (range 0.01–48.75). Forty-seven patients (65%) had GMI ≥ 1.33; 13/25 patients (52%) with GMI < 1.33 had not yet progressed on larotrectinib. Kaplan–Meier estimates showed a median GMI of 6.46. The probability of attaining GMI ≥ 1.33 was 0.75 (95% confidence interval (CI), 0.65–0.85). Median TTP on previous treatment was 3.0 months (95% CI, 2.6–4.4). Median PFS on larotrectinib was not estimable ((NE); 95% CI, NE; hazard ratio, 0.220 (95% CI, 0.146–0.332)). This analysis suggests larotrectinib improves PFS for patients with TRK fusion cancer compared with prior therapy. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
232. FOXO3a variants in patients with premature ovarian failure.
- Author
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Vinci, Giovanna, Christin-Maitre, Sophie, Pasquier, Maud, Bouchard, Philippe, Fellous, Marc, and Veitia, Reiner A.
- Subjects
LETTERS to the editor ,PREMATURE ovarian failure - Abstract
A letter to the editor is presented which describes a study that supports the notion that mutations in the coding region of FOXO3a are not a frequent cause of premature ovarian failure (POF).
- Published
- 2008
- Full Text
- View/download PDF
233. CIITA B-cell-specific promoter suppression in MHC class II-silenced cell hybrids
- Author
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Lennon, Ana-Maria, Ottone, Catherine, Rosemblatt, Mario, Fellous, Marc, Bono, Maria-Rosa, and Alcaïde-Loridan, C.
- Abstract
Abstract: In this study, various sets of somatic cell hybrids, generated by the fusion of epithelial cell lines with B-lymphoblastoid cell lines, were analyzed for the expression of major histocompatibility complex (MHC) class II antigens. We first demonstrate, in human and mouse intraspecies hybrids, the coordinate suppression of MHC class II, Ii (invariant chain) and HLA-DM gene transcription, and the release of the silencing by the addition of interferon gamma. Using interspecies hybrids, the segregation of human chromosomes allowed us to establish that MHC class II extinction is linked to the presence in the hybrids of the chromosomes from the epithelial fusion partner. Moreover, our data provide evidence that the expression pattern of MHC class II mRNA is correlated with that of the class II transactivator (CIITA), suggesting that CIITA is the actual target of the silencing. To gain further insight into the suppression phenomenon we performed luciferase assays which show that silencing affects the activity of the B-cell-specific promoter of CIITA. These results therefore demonstrate that the MHC class II gene silencing in somatic cell hybrids is due to an active suppression of one of the promoters of the CIITA gene, mediated by the epithelial cell fusion partner.
- Published
- 1998
- Full Text
- View/download PDF
234. Distinct Domains of the Protein Tyrosine Kinase tyk2 Required for Binding of Interferon-α/βand for Signal Transduction ∗
- Author
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Velazquez, Laura, Mogensen, Knud E., Barbieri, Giovanna, Fellous, Marc, Uzé, Gilles, and Pellegrini, Sandra
- Abstract
tyk2 belongs to the JAK family of nonreceptor protein tyrosine kinases recently found implicated in signaling through a large number of cytokine receptors. These proteins are characterized by a large amino-terminal region and two tandemly arranged kinase domains, a kinase-like and a tyrosine kinase domain. Genetic and biochemical evidence supports the requirement for tyk2 in interferon-α/β binding and signaling. To study the role of the distinct domains of tyk2, constructs lacking one or both kinase domains were stably transfected in recipient cells lacking the endogenous protein. Removal of either or both kinase domains resulted in loss of the in vitrokinase activity. The mutant form truncated of the tyrosine kinase domain was found to reconstitute binding of interferon-α8 and partial signaling. While no contribution of this protein toward interferon-β binding was evident, increased signaling could be measured. The mutant form lacking both kinase domains did not exhibit any detectable activity. Altogether, these results show that a sequential deletion of domains engenders a sequential loss of function and that the different domains of tyk2 have distinct functions, all essential for full interferon-α and -β binding and signaling.
- Published
- 1995
- Full Text
- View/download PDF
235. Interferon response sequence potentiates activity of an enhancer in the promoter region of a mouse H–2 gene
- Author
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Israel, Alain, Kimura, Akinori, Fournier, Agnès, Fellous, Marc, and Kourilsky, Philippe
- Abstract
The expression of class I transplantation antigens encoded in the major histocompatibility complex (H–2 in mouse, HLA in man) can be induced by α-, β- and γ-interferons1–5. Both transcriptional and post-transcriptional mechanisms have been postulated. Recently, a common sequence has been found in the promoter region of several human genes responsive to IFN-α (ref. 6). The promoters of H–2Kband several other mouse class I genes contain a similar interferon response sequence7. We show here, in a transient assay, that the H–2Kbpromoter can be induced by all three types of interferon and that the interferon response sequence is necessary for induction to occur. However, the response sequence is active only when associated with a functional enhancer sequence which we have recently identified in the promoter of H–2Kband other class I genes7. The combination of these two sequences can render a heterologous promoter responsive to interferon, irrespective of its orientation relative to the cap site.
- Published
- 1986
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236. The RAG cell line defines a new complementation group of MHC class II deficiency
- Author
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Lennon, Ana-Maria, Ottone, Catherine, Peijnenburg, A., Hamon-Benais, Chantal, Colland, Frédéric, Gobin, S., van den Elsen, Peter, Fellous, Marc, Bono, Rosa, and Alcaïde-Loridan, C.
- Abstract
We previously described RAG, a mouse adenocarcinoma cell line, as deficient for the induction of major histocompatibility (MHC) class II antigens by IFN-, but responding normally for MHC class I antigen stimulation and anti-viral protection. We had established that the fusion of RAG with various human cell lines restored the induction of MHC class II antigens, whenever the human chromosome 16 was present in somatic cell hybrids. Here we show that the RAG cell line does not exhibit any induction by IFN- of DMA, DMB, and the invariant chain (Ii) mRNAs, and that the induction is restored in somatic cell hybrids containing human chromosome 16. In order to define the gene (designated F16) affected in the RAG cells, we performed a complementation analysis by fusing RAG with previously described human cell lines defective for MHC class II antigen expression (e.g., BLS cell lines), and which belong to five different complementation groups. Our data show that the resulting somatic cell hybrids present an inducible expression of mouse MHC class II antigens, Ii, DMA, and DMB. Therefore, the RAG cell line represents a yet undescribed cellular mutant affected in the expression of MHC class II antigens. In addition, we demonstrate that MHC class II antigens can be constitutively expressed in the RAG cell line when transfected with the cDNA encoding human CIITA driven by the RSV LTR promoter. Since the complementation analysis assessed that F16 and CIITA are distinct, our data suggest that F16 is required for the expression of CIITA.
- Published
- 1996
- Full Text
- View/download PDF
237. Presence of an abnormal β2-microglobulin mRNA in Daudi cells: Induction by interferon
- Author
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Rosa, Frédéric, Fellous, Marc, Dron, Michel, Tovey, Michael, and Revel, Michel
- Abstract
Human a and ß interferons increase the amount of class I human histocompatibility messenger RNA HLA-A, B, C and ß
2 -microglobulin in most human cells studied to date. This report concerns the effect of interferons on the Burkitt lymphoma-derived cell line Daudi, which does not express HLA-A, B, C antigens or ß2 -microglobulin on its membrane. HLA-A, B, C messenger RNA present in Daudi cells is increased by both a and ß interferons. Furthermore, we have shown that although it was not possible to detect mature ß2 -microglobulin protein in the cytoplasm or on the cell membrane of Daudi cells, a poly A+ messenger RNA is present in Daudi cells, which hybridizes with a cDNA clone specific for human ß2 -microglobulin. This abnormal messenger RNA is, however, increased normally by interferon. These effects were also observed with human interferon ß on a variant of Daudi cells characterized by a markedly reduced sensitivity to anti-proliferative and anti-cellular effects of human interferon a.[/p]- Published
- 1983
- Full Text
- View/download PDF
238. Isolation of a B-cell-specific promoter for the human class II transactivator
- Author
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Lennon, Ana-Maria, Ottone, Catherine, Rigaud, Gildas, Deaven, Larry L., Longmire, Jon, Fellous, Marc, Bono, Rosa, and Alcaïde-Loridan, C.
- Abstract
Abstract: The class II transactivator (CIITA) is essential for the expression of major histocompatibility complex (MHC) class II antigens. The tissular patterns of CIITA and MHC class II gene expression are tightly correlated: CIITA mRNA is highly expressed in B cells, and is induced by interferon gamma (IFN-γ) in macrophage and epithelial cell lines. We first isolated two overlapping cosmids encoding human CIITA which, when co-transfected, are able to restore MHC class II expression in a B-lymphoblastoid cell line (B-LCL) defective for CIITA. Subsequently, a 1.8 kilobase (kb) fragment of the CIITA promoter was isolated and sequenced. A motif presenting a strong similarity to an initiator was detected, as well as putative binding sites for Sp1, GATA-2, LyF-1, ets-1, AP1, and MZF1 transcription factors, and two GAS motifs. When introduced in front of a luciferase reporter gene, this promoter is able to direct a high luciferase activity in a human B-LCL. In contrast, luciferase expression was not stimulated after IFN-γ treatment when the construct was transfected in macrophage or in epithelial cell lines. However, an induction of the human CIITA gene was observed in mouse macrophage and fibrosarcoma cell lines, when the cells were transfected with a cosmid containing the human CIITA gene, but lacking the 1.8 kb promoter described above. Taken together, these data suggest the existence of an intragenic promoter driving an IFN-γ-inducible expression of CIITA.
- Published
- 1997
- Full Text
- View/download PDF
239. Genetic mapping of a male germ cell-expressed gene Tpx-2 to mouse chromosome 17
- Author
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Kasahara, Masanori, Seboun, Eric, Fellous, Marc, and Nadeau, Joseph H.
- Published
- 1991
- Full Text
- View/download PDF
240. Monoclonal antibodies as a tool for phylogenetic studies of major histocompatibility antigens and β2-microglobulin
- Author
-
Teillaud, Jean-Luc, Crevat, Denis, Chardon, Patrick, Kalil, Jorge, Goujet-Zalc, Cécile, Mahouy, Guy, Vaiman, Marcel, Fellous, Marc, and Piou, Donald
- Abstract
The cross-reactivity of several monoclonal antibodies recognizing monomorphic determinants of human HLA-A, B, C, and DR antigens and human ß2-microglobulin (ß2m) has been studied on peripheral blood leukocytes in 24 different species. An monoclonal HLA-A-, B-, and C-specific antibody and four monoclonal HLA-DR-specific antibodies cross-reacted with cells from all the primate species tested. Furthermore, antibodies HLA-DR-specific were positive with peripheral blood leukocytes (PBL) from cows, goats, sheep, horses, and dogs. Two monoclonal ß2m-specific antibodies, which were positive with PBL from certain primates, also reacted with cells from cows, goats, sheep, horses, and dogs. Two other #2m-specific antibodies reacted only with PBL from chimpanzees. No reaction could be detected with all our reagents in other classes tested (birds, reptiles, amphibians, and Teleostei).
- Published
- 1982
- Full Text
- View/download PDF
241. Phenotype and surface antigens of mouse teratocarcinoma × fibroblast cell hybrids
- Author
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Rousset, Jean -Pierre, Dubois, Philippe, Lasserre, Chantal, Avilés, Dominique, Fellous, Marc, and Jami, Jacques
- Abstract
Numerous colonies of hybrids between PCC4-aza 1 teratocarcinoma cells and fibroblasts of the heteroploid Cl.1D cell line were examined. All of the hybrids were fibroblasts showing extinction of the multiple developmental potentialities of the teratocarcinoma cell parent, irrespective of whether the teratocarcinoma parent was diploid or tetraploid. The hybrids did not show loss of any specific chromosome contributed by the PCC4-aza 1 cell parent. In contrast with the PCC4 parental cells which carry F9 antigens and do not express H-2
b , the hybrids do not express F9 antigens and carry H-2 alloantigens of both parental specificities. These results suggest that in hybrids whose phenotype is that of the Cl.1D parent, a change may occur in the genetic program of the teratocarcinoma cells.- Published
- 1979
- Full Text
- View/download PDF
242. Cloning and characterization of bovine Y-derived sequences
- Author
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Cotinot, Corinne, Kirszenbaum, M., Bishop, C., VAIMAN, M., Fellous, Marc, Unité de recherches de Physiologie animale (JOUY PHYSIO A), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration
- Subjects
[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,BOVINS ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 1987
243. Le sexage des embryons : vers une modification du sex ratio ?
- Author
-
Cotinot, Corinne, Kirzenbaum, M., Vaiman, M., Fellous, Marc, Unité de recherches de Physiologie animale (JOUY PHYSIO A), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration
- Subjects
[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
National audience
- Published
- 1988
244. Le choix du sexe. La selection des spermatozoides
- Author
-
Kirszenbaum, M., Cotinot, Corinne, Fellous, Marc, Unité de recherches de Physiologie animale (JOUY PHYSIO A), Institut National de la Recherche Agronomique (INRA), Laboratoire de radiobiologie et d'étude du génome (LREG), Institut National de la Recherche Agronomique (INRA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), G. Arvis (Editeur), Unité de biologie cellulaire et moléculaire, Y. Englert, J.F. Guerin, P. Jouannet, ProdInra, Migration, and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Recherche Agronomique (INRA)
- Subjects
[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
chap. 18; National audience
- Published
- 1988
245. Sexing of bovine embryos using male-specific nucleic acid probes
- Author
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Vaiman, M., Cotinot, Corinne, Kirszenbaum, M., Leonard, Marie, Chesne, P., Heyman, Yvan, Stinnakre, M.G., Bishop, C., Fellous, Marc, ProdInra, Migration, Unité de recherches de Physiologie animale (JOUY PHYSIO A), and Institut National de la Recherche Agronomique (INRA)
- Subjects
[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,SONDE D'ADN ,ComputingMilieux_MISCELLANEOUS - Abstract
National audience
- Published
- 1988
246. Characterization of human XX males and sexing of cattle embryos using Y-specific DNA sequences
- Author
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Casanova, Marie, Cotinot, Corinne, Kirszenbaum, M., Abbas, N., Bishop, C., Fellous, Marc, Unité de biologie cellulaire et moléculaire, Institut National de la Recherche Agronomique (INRA), Laboratoire de radiobiologie et d'étude du génome (LREG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Recherche Agronomique (INRA), ProdInra, Migration, and Institut National de la Recherche Agronomique (INRA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)
- Subjects
[SDV] Life Sciences [q-bio] ,[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
chap. 27; International audience
- Published
- 1987
247. Interferon enhances the amount of membrane-bound β.
- Author
-
Fellous, Marc, Bono, Rosa, Hyafil, François, and Gresser, Ion
- Published
- 1981
- Full Text
- View/download PDF
248. Human interferon gamma receptor 1 (IFNGR1) gene maps to chromosome region 6q23-6q24.
- Author
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Coniat, Maryvonne, Alcaide-Loridan, Catherine, Fellous, Marc, and Berger, Roland
- Abstract
The human interferon γ receptor (IFNGR1) gene has been localized by in situ hybridization to chromosome 6 at q23-q24. This chromosomal region is often deleted in lymphoid cell malignancies. [ABSTRACT FROM AUTHOR]
- Published
- 1989
- Full Text
- View/download PDF
249. Liver function changes after transarterial chemoembolization in US hepatocellular carcinoma patients: the LiverT study.
- Author
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Miksad, Rebecca A., Ogasawara, Sadahisa, Xia, Fang, Fellous, Marc, and Piscaglia, Fabio
- Subjects
CHEMOEMBOLIZATION ,HEPATOCELLULAR carcinoma ,LIVER ,ALANINE aminotransferase ,ASPARTATE aminotransferase - Abstract
Background: The real-world incidence of chronic liver damage after transarterial chemoembolization (TACE) is unclear. LiverT, a retrospective, observational study, assessed liver function deterioration after a single TACE in real-world hepatocellular carcinoma (HCC) patients in US practice.Methods: Eligible HCC patients identified from Optum's integrated database using standard codes as having had an index TACE between 2010 and 2016 with no additional oncologic therapy in the subsequent 3 months. At least one laboratory value (bilirubin, albumin, aspartate transaminase [AST], alanine transaminase [ALT], international normalized ratio [INR]) was required at baseline and the acute (≤29 days after TACE) and chronic (30-90 days after TACE) periods. Due to lack of universally accepted liver function deterioration criteria, clinically meaningful changes in laboratory parameters were pre-defined by authors (FP, RM, and SO).Results: Of the 3963 TACE patients, 572 were eligible for analyses. Deterioration of liver function from baseline occurred in the acute period and persisted in the chronic period (bilirubin 30 and 23%, albumin 52 and 31%, AST 44 and 25%, ALT 43 and 25%, INR 25 and 15%, respectively). In a subgroup analysis, a higher proportion of patients with diabetes had deterioration in AST and ALT.Conclusions: A clinically meaningful proportion of real-world HCC patients had deterioration of liver function-related laboratory values 30-90 days after a single TACE in modern US practice. Future electronic health record research may help determine causality. The present findings highlight the need for the careful selection of patients for TACE, which is important to help optimize the benefit of the overall HCC treatment course. [ABSTRACT FROM AUTHOR]- Published
- 2019
- Full Text
- View/download PDF
250. A human Y-Linked DNA Polymorphism and Its Potential for Estimating Genetic and Evolutionary Distance
- Author
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Casanova, Myriam, primary, Leroy, Pascale, additional, Boucekkine, Chafika, additional, Weissenbach, Jean, additional, Bishop, Colin, additional, Fellous, Marc, additional, Purrello, Michele, additional, Fiori, Gianmario, additional, and Siniscalco, Marcello, additional
- Published
- 1985
- Full Text
- View/download PDF
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