Search Results - "GROSGEORGE, J"

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic ( oc/oc) mutants by Scimeca, J.-C, Franchi, A, Trojani, C, Parrinello, H, Grosgeorge, J, Robert, C, Jaillon, O, Poirier, C, Gaudray, P, Carle, G.F

“…Osteosclerosis ( oc) is an autosomal recessive lethal mutation that impairs bone resorption by osteoclasts, and induces a general increase of bone density in…”
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Fragile X related protein 1 isoforms differentially modulate the affinity of fragile X mental retardation protein for G-quartet RNA structure by Bechara, Elias, Davidovic, Laetitia, Melko, Mireille, Bensaid, Mounia, Tremblay, Sandra, Grosgeorge, Josiane, Khandjian, Edouard W, Lalli, Enzo, Bardoni, Barbara

“…Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of expression of the Fragile X Mental Retardation Protein…”
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Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation by Courseaux, Anouk, Richard, Florence, Grosgeorge, Josiane, Ortola, Christine, Viale, Agnes, Turc-Carel, Claude, Dutrillaux, Bernard, Gaudray, Patrick, Nahon, Jean-Louis

“…Recent analyses of the structure of pericentromeric and subtelomeric regions have revealed that these particular regions of human chromosomes are often…”
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Detailed map of a region commonly amplified at 11q13-->q14 in human breast carcinoma by Bekri, S, Adélaïde, J, Merscher, S, Grosgeorge, J, Caroli-Bosc, F, Perucca-Lostanlen, D, Kelley, P M, Pébusque, M J, Theillet, C, Birnbaum, D, Gaudray, P

“…Amplification of loci present on band q13 of human chromosome 11 is a feature of a subset of estrogen receptor positive breast carcinomas prone to metastasis…”
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Distinct MDM2 and P14ARF expression and centrosome amplification in well-differentiated liposarcomas by Perucca-Lostanlen, D., Rostagno, P., Grosgeorge, J., Marcié, S., Gaudray, P., Turc-Carel, C.

“…Well‐differentiated liposarcomas (WDLs) are common soft‐tissue tumors in adults. They are characterized by large marker chromosomes and/or ring chromosomes…”
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Fluorescence in Situ Hybridization Analysis of t(3; 12)(q26;p13): A Recurring Chromosomal Abnormality Involving the TEL Gene (ETV6) in Myelodysplastic Syndromes by Raynaud, S.D., Baens, M., Grosgeorge, J., Rodgers, K., Reid, C.D.L., Dainton, M., Dyer, M., Fuzibet, J.G., Gratecos, N., Taillan, B., Ayraud, N., Marynen, P.

“…We have identified a new recurrent reciprocal translocation between chromosome 3 and 12 with breakpoints at bands 3q26 and 12p13, t(3; 12)(q26;p13) in the…”
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The Human Inward Rectifying K+Channel Kir 2.2 (KCNJ12) Gene: Gene Structure, Assignment to Chromosome 17p11.1, and Identification of a Simple Tandem Repeat Polymorphism by Hugnot, J.P., Pedeutour, F., Le Calvez, C., Grosgeorge, J., Passage, E., Fontes, M., Lazdunski, M.

“…K+channels are essential for a variety of cellular functions in both excitable and nonexcitable cells, and K+channel gene alteration has been recently…”
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Nuclear gene OPA1 , encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy by Lorenzo, Corinne, Hamel, Christian P, Griffoin, Jean-Michel, Turc-Carel, Claude, Delettre, Cécile, Lenaers, Guy, Kaplan, Josseline, Lasquellec, Laetitia, Belenguer, Pascale, Astarie-Dequeker, Catherine, Gigarel, Nadine, Grosgeorge, Josiane, Arnaud, Bernard, Pelloquin, Laetitia, Ducommun, Bernard, Perret, Eric

“…Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in…”
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Mapping FRA11A, a folate-sensitive fragile site in human chromosome band 11q13.3 by Perucca-Lostanlen, D, Hecht, B K, Courseaux, A, Grosgeorge, J, Hecht, F, Gaudray, P

“…FRA11A, a rare folate-sensitive fragile site assigned to 11q13.3, lies in an area of genomic instability associated with several diseases and amplification…”
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Rearrangement of proximal 11q13 band in a CMML in acute transformation by Courseaux, A, Grosgeorge, J, Garnier, G, Larsson, C, Ayraud, N, Gaudray, P, Raynaud, S D

“…Fluorescence in situ hybridization (FISH) was performed on bone marrow cells thought to contain a t(7;11)(p22;q13) from a patient with chronic myelomonocytic…”
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Human gp130 transducer chain gene (IL6ST) is localized to chromosome band 5q11 and possesses a pseudogene on chromosome band 17p11 by Rodriguez, C, Grosgeorge, J, Nguyen, V C, Gaudray, P, Theillet, C

“…Human gp130 (IL6ST) is one of the most widely used chains of the cytokine receptor family. Indeed, it is involved in signal transduction of interleukin-6,…”
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Description of a 700-kb yeast artificial chromosome contig containing the BCL1 translocation breakpoint region at 11q13 by Szepetowski, P, Perucca-Lostanlen, D, Grosgeorge, J, LePaslier, D, Brownstein, B H, Carle, G F, Gaudray, P

“…We screened two human yeast artificial chromosome (YAC) libraries by polymerase chain reaction (PCR) with oligonucleotides specific to the BCL1 major…”
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Fluorescent in situ hybridization analysis of an atypical t(11;14)(q13;q32) without expression of the cyclin D1 gene by Raynaud, S D, Gratecos, N, Simon, M P, Chischportich, M, Grosgeorge, J, Gaudray, P, Ayraud, N

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Human EMK1 is located on 11q12-q13, close to COX8 and FTH1 by Courseaux, A, Fernandes, M, Grosgeorge, J, Inglis, J, Raynaud, S D, Gaudray, P

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Fusion of TEL, the ETS-Variant Gene 6 (ETV6), to the Receptor-Associated Kinase JAK2 as a Result of t(9; 12) in a Lymphoid and t(9; 15; 12) in a Myeloid Leukemia by Peeters, Pieter, Raynaud, Sophie D., Cools, Jan, Wlodarska, Iwona, Grosgeorge, Josiane, Philip, Patrick, Monpoux, Fabrice, Van Rompaey, Luc, Baens, Mathijs, Van den Berghe, Herman, Marynen, Peter

“…Translocations in hematologic disease of myeloid or lymphoid origin with breakpoints at chromosome band 12p13 frequently result in rearrangements of the Ets…”
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Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9; 12) in a lymphoid and t(9; 15;12) in a myeloid leukemia by PEETERS, P, RAYNAUD, S. D, MARYNEN, P, COOLS, J, WLODARSKA, I, GROSGEORGE, J, PHILIP, P, MONPOUX, F, VAN ROMPAEY, L, BAENS, M, VAN DEN BERGHE, H

“…Translocations in hematologic disease of myeloid or lymphoid origin with breakpoints at chromosome band 12p13 frequently result in rearrangements of the Ets…”
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Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma by SIMON, M.-P, PEDEUTOUR, F, SOZZI, G, TURC-CAREL, C, O'BRIEN, K. P, KEDRA, D, FRANSSON, I, GUIBAUD, C, DUMANSKI, J. P, SIRVENT, N, GROSGEORGE, J, MINOLETTI, F, COINDRE, J.-M, TERRIER-LACOMBE, M.-J, MANDAHL, N, CRAVER, R. D, BLIN, N

“…Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy, presents specific features such as reciprocal translocations…”
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The 12;21 translocation involving TEL and deletion of the other TEL allele : Two frequently associated alterations found in childhood acute lymphoblastic leukemia by RAYNAUD, S, CAVE, H, GRANDCHAMP, B, BAENS, M, BASTARD, C, CACHEUX, V, GROSGEORGE, J, GUIDAL-GIROUX, C, GUO, C, VILMER, E, MARYNEN, P

“…A recurrent t(12;21)(p13;q22) has recently been described in human acute lymphoblastic leukemias (ALLs). This translocation fuses TEL and AML1, two genes…”
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Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis by Scimeca, Jean‐Claude, Quincey, Danielle, Parrinello, Hugues, Romatet, Delphine, Grosgeorge, Josiane, Gaudray, Patrick, Philip, Nicole, Fischer, Alain, Carle, Georges F.

“…Fifty percent of the infantile malignant osteopetrosis (IMO) cases reported in the literature present mutations in the TCIRG1 gene encoding the 116‐kDa…”
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Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13 by COURSEAUX, A, GROSGEORGE, J, SHEPHERD, J, SKOGSEID, B, LARSSON, C, GIRAUD, S, ZHANG, C. X, SALANDRE, J, CALENDER, A, GAUDRAY, P, PANNETT, A. A. J, FORBES, S. A, WILLIAMSON, C, BASSETT, D, THAKKER, R. V, TEH, B. T, FARNEBO, F

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