Search Results - "Veitia, R.A"

Mechanisms of Mendelian dominance by Veitia, R.A., Caburet, S., Birchler, J.A.

“…Genetic dominance has long been considered as a qualitative reflection of interallelic interactions. Dominance arises from many multiple sources whose unifying…”
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The genetic make‐up of ovarian development and function: the focus on the transcription factor FOXL2 by Elzaiat, M., Todeschini, A.‐L., Caburet, S., Veitia, R.A.

“…In a 46 XY individual, the presence of the Y chromosome harboring the testis‐determining factor (SRY) triggers testis determination and differentiation. In a…”
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P-015: Association of FOXD1 variants with pregnancy failures in mice and humans by Laissue, P, Lakhal, B, Vatin, M, Batista, F, Burgio, G, Dos Santos, E, Buffat, C, Sierra-Diaz, A.C, Renault, G, Montagutelli, X, Salmon, J, Monget, P, Veitia, R.A, Méhats, C, Fellous, M, Cocquet, J, Vaiman, D, Gris, J.-C

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Structure, evolution and expression of the FOXL2 transcription unit by Cocquet, J, De Baere, E, Gareil, M, Pannetier, M, Xia, X, Fellous, M, Veitia, R A

“…FOXL2 is a putative transcription factor involved in ovarian development and function. Its mutations in humans are responsible for the blepharophimosis…”
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A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency by Fauchereau, F., Shalev, S., Chervinsky, E., Beck-Fruchter, R., Legois, B., Fellous, M., Caburet, S., Veitia, R.A.

“…Primary ovarian insufficiency (POI) results in an early loss of ovarian function, and remains idiopathic in about 80% of cases. Here, we have performed a…”
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Clinical Genetics in the age of Genomics and Genome editing by Veitia, R. A.

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Adult ovarian granulosa cell tumor transcriptomics: prevalence of FOXL2 target genes misregulation gives insights into the pathogenic mechanism of the p.Cys134Trp somatic mutation by Benayoun, B A, Anttonen, M, L’Hôte, D, Bailly-Bechet, M, Andersson, N, Heikinheimo, M, Veitia, R A

“…Ovarian granulosa cell tumors (OGCT) are the most frequent kind of sex cord-stromal tumors, and represent ∼2–5% of all ovarian malignancies. OGCTs exist as two…”
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Three‐dimensional genome architecture in health and disease by Ouimette, J.‐F., Rougeulle, C., Veitia, R.A.

“…More than a decade of massive DNA sequencing efforts have generated a large body of genomic, transcriptomic and epigenomic information that has provided a more…”
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A role for SOX9 in post-transcriptional processes: insights from the amphibian oocyte by Penrad-Mobayed, M., Perrin, C., L’Hôte, D., Contremoulins, V., Lepesant, J.-A., Boizet-Bonhoure, B., Poulat, F., Baudin, X., Veitia, R. A.

“…Sox9 is a member of the gene family of SOX transcription factors, which is highly conserved among vertebrates. It is involved in different developmental…”
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Paralogs in polyploids: one for all and all for one? by Veitia, R.A

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Genetic basis of human sex determination: An overview by Veitia, R.A., Nunes, M., McElreavey, K., Fellous, M.

“…Mammalian sex determination normally depends on the presence and appropriate expression of the SRY (Sex Determining Region, Y) gene. Mutations in this gene can…”
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Evolution and expression of FOXL2 by Cocquet, J, Pailhoux, E, Jaubert, F, Servel, N, Xia, X, Pannetier, M, De Baere, E, Messiaen, L, Cotinot, C, Fellous, M, Veitia, R A

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The mutations and potential targets of the forkhead transcription factor FOXL2 by Moumné, L., Batista, F., Benayoun, B.A., Nallathambi, J., Fellous, M., Sundaresan, P., Veitia, R.A.

“…Mutations of FOXL2, a gene encoding a forkhead transcription factor, have been shown to cause the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES)…”
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Genes encoding subunits of stable complexes are clustered on the yeast chromosomes: an interpretation from a dosage balance perspective by Teichmann, S.A, Veitia, R.A

“…Genomic evidence for colocalization of functionally related genes on eukaryote chromosomes is mounting. Here we show that a statistically significant fraction…”
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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome by Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, J.R.W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J.P., Kim, J.R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L.M., Oley, C., Splitt, M., Thomson, J., Peer, Y. Van de, Veitia, R.A., De Paepe, A., De Baere, E.

“…The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target…”
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Gene expression regulation in the context of mouse interspecific mosaic genomes by L'Hôte, David, Serres, Catherine, Veitia, Reiner A, Montagutelli, Xavier, Oulmouden, Ahmad, Vaiman, Daniel

“…Accumulating evidence points to the mosaic nature of the mouse genome. However, little is known about the way the introgressed segments are regulated within…”
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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions by D'haene, B, Nevado, J, Pugeat, M, Pierquin, G, Lowry, R.B, Reardon, W, Delicado, A, García-Miñaur, S, Palomares, M, Courtens, W, Stefanova, M, Wallace, S, Watkins, W, Shelling, A.N, Wieczorek, D, Veitia, R.A, De Paepe, A, Lapunzina, P, De Baere, E

“…Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with or without ovarian dysfunction caused by FOXL2 mutations…”
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Coding repeats and evolutionary "agility" by Caburet, Sandrine, Cocquet, Julie, Vaiman, Daniel, Veitia, Reiner A.

“…The rapid generation of new shapes observed in the living world is the result of genetic variation, especially in “morphological” developmental genes. Many of…”
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The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles by Benayoun, B.A., Caburet, S., Dipietromaria, A., Bailly-Bechet, Marc, Batista, F., Fellous, Marc, Vaiman, Daniel, Veitia, R.A.

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A Genomic Basis for the Evolution of Vertebrate Transcription Factors Containing Amino Acid Runs by Caburet, Sandrine, Vaiman, Daniel, Veitia, Reiner A

“…We have previously shown that polyAla (A) tract-containing proteins frequently present runs of glycine (G), proline (P), and histidine (H) and that, in their…”
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