Search Results - "Robin, Jerome D."

Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances by Robin, Jérôme D, Ludlow, Andrew T, Batten, Kimberly, Magdinier, Frédérique, Stadler, Guido, Wagner, Kathyrin R, Shay, Jerry W, Wright, Woodring E

“…While global chromatin conformation studies are emerging, very little is known about the chromatin conformation of human telomeres. Most studies have focused…”
Get full text

Regulation of the Human Telomerase Gene TERT by Telomere Position Effect-Over Long Distances (TPE-OLD): Implications for Aging and Cancer by Kim, Wanil, Ludlow, Andrew T, Min, Jaewon, Robin, Jerome D, Stadler, Guido, Mender, Ilgen, Lai, Tsung-Po, Zhang, Ning, Wright, Woodring E, Shay, Jerry W

“…Telomerase is expressed in early human development and then becomes silenced in most normal tissues. Because ~90% of primary human tumors express telomerase…”
Get full text

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy by Robin, Jérôme D, Ludlow, Andrew T, Batten, Kimberly, Gaillard, Marie-Cécile, Stadler, Guido, Magdinier, Frédérique, Wright, Woodring E, Shay, Jerry W

“…DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question…”
Get full text

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype by Laberthonnière, Camille, Delourme, Mégane, Chevalier, Raphaël, Dion, Camille, Ganne, Benjamin, Hirst, David, Caron, Leslie, Perrin, Pierre, Adélaïde, José, Chaffanet, Max, Xue, Shifeng, Nguyen, Karine, Reversade, Bruno, Déjardin, Jérôme, Baudot, Anaïs, Robin, Jérôme D, Magdinier, Frédérique

“…Abstract Many genetic syndromes are linked to mutations in genes encoding factors that guide chromatin organization. Among them, several distinct rare genetic…”
Get full text

NOVA1 regulates hTERT splicing and cell growth in non-small cell lung cancer by Ludlow, Andrew T., Wong, Mandy Sze, Robin, Jerome D., Batten, Kimberly, Yuan, Laura, Lai, Tsung-Po, Dahlson, Nicole, Zhang, Lu, Mender, Ilgen, Tedone, Enzo, Sayed, Mohammed E., Wright, Woodring E., Shay, Jerry W.

“…Alternative splicing is dysregulated in cancer and the reactivation of telomerase involves the splicing of TERT transcripts to produce full-length (FL) TERT …”
Get full text

Mitochondrial function in skeletal myofibers is controlled by a TRF2‐SIRT3 axis over lifetime by Robin, Jérôme D., Jacome Burbano, Maria‐Sol, Peng, Han, Croce, Olivier, Thomas, Jean Luc, Laberthonniere, Camille, Renault, Valerie, Lototska, Liudmyla, Pousse, Mélanie, Tessier, Florent, Bauwens, Serge, Leong, Waiian, Sacconi, Sabrina, Schaeffer, Laurent, Magdinier, Frédérique, Ye, Jing, Gilson, Eric

“…Telomere shortening follows a developmentally regulated process that leads to replicative senescence of dividing cells. However, whether telomere changes are…”
Get full text

Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy by Stadler, Guido, Rahimov, Fedik, King, Oliver D, Chen, Jennifer C J, Robin, Jerome D, Wagner, Kathryn R, Shay, Jerry W, Emerson, Charles P, Wright, Woodring E

“…The telomere position effect (TPE) can change gene expression at intermediate telomere lengths in cultured human cells, but it has not been previously…”
Get full text

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy by Gaillard, Marie-Cécile, Broucqsault, Natacha, Morere, Julia, Laberthonnière, Camille, Dion, Camille, Badja, Cherif, Roche, Stéphane, Nguyen, Karine, Magdinier, Frédérique, Robin, Jérôme D.

“…Facio-Scapulo Humeral dystrophy (FSHD) is the third most common myopathy, affecting 1 amongst 10,000 individuals (FSHD1, OMIM #158900). This autosomal dominant…”
Get full text

Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging by Trani, Jean Philippe, Chevalier, Raphaël, Caron, Leslie, El Yazidi, Claire, Broucqsault, Natacha, Toury, Léa, Thomas, Morgane, Annab, Karima, Binetruy, Bernard, De Sandre-Giovannoli, Annachiara, Levy, Nicolas, Magdinier, Frédérique, Robin, Jérôme D

“…Progeroid syndromes are rare genetic diseases with most of autosomal dominant transmission, the prevalence of which is less than 1/10,000,000. These syndromes…”
Get full text

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism by Roche, Stéphane, Dion, Camille, Broucqsault, Natacha, Laberthonnière, Camille, Gaillard, Marie-Cécile, Robin, Jérôme D, Lagarde, Arnaud, Puppo, Francesca, Vovan, Catherine, Chaix, Charlene, Campana, Emmanuelle Salort, Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Nguyen, Karine, Magdinier, Frédérique

“…To investigate the distribution of cytosine-guanine dinucleotide (CpG) sites with a variable level of DNA methylation of the D4Z4 macrosatellite element in…”
Get full text

Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population by Stadler, Guido, Chen, Jennifer Cj, Wagner, Kathryn, Robin, Jerome D, Shay, Jerry W, Emerson, Jr, Charles P, Wright, Woodring E

“…A hallmark of muscular dystrophies is the replacement of muscle by connective tissue. Muscle biopsies from patients severely affected with facioscapulohumeral…”
Get full text

TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure by Poszewiecka, Barbara, Pienkowski, Victor Murcia, Nowosad, Karol, Robin, Jérôme D, Gogolewski, Krzysztof, Gambin, Anna

“…Abstract In recent years great progress has been made in identification of structural variants (SV) in the human genome. However, the interpretation of SVs,…”
Get full text

NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells by Sayed, Mohammed E., Yuan, Laura, Robin, Jerome D., Tedone, Enzo, Batten, Kimberly, Dahlson, Nicole, Wright, Woodring E., Shay, Jerry W., Ludlow, Andrew T.

“…Alternative splicing is dysregulated in cancer cells, driving the production of isoforms that allow tumor cells to survive and continuously proliferate. Part…”
Get full text

Comparison of DNA Quantification Methods for Next Generation Sequencing by Robin, Jérôme D., Ludlow, Andrew T., LaRanger, Ryan, Wright, Woodring E., Shay, Jerry W.

“…Next Generation Sequencing (NGS) is a powerful tool that depends on loading a precise amount of DNA onto a flowcell. NGS strategies have expanded our ability…”
Get full text

Quantitative telomerase enzyme activity determination using droplet digital PCR with single cell resolution by Ludlow, Andrew T, Robin, Jerome D, Sayed, Mohammed, Litterst, Claudia M, Shelton, Dawne N, Shay, Jerry W, Wright, Woodring E

“…The telomere repeat amplification protocol (TRAP) for the human reverse transcriptase, telomerase, is a PCR-based assay developed two decades ago and is still…”
Get full text

C-HiC: A High-Resolution Method for Unbiased Chromatin Conformation Capture Targeting Small Locus by Robin, Jérôme D

“…Within the nucleus, precise DNA folding and organization is mandatory for a tight control of gene expression. In the past 20 years, a wealth of molecular…”
Get more information

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite by Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Schlupp-Robaglia, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Binetruy, Bernard, Salort Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin, Jérôme D, Magdinier, Frédérique

“…Abstract The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive…”
Get full text

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge by Robin, Jérôme D, Magdinier, Frédérique

“…Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and…”
Get full text

Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells by Mazaleyrat, Kilian, Badja, Cherif, Broucqsault, Natacha, Chevalier, Raphaël, Laberthonnière, Camille, Dion, Camille, Baldasseroni, Lyla, El-Yazidi, Claire, Thomas, Morgane, Bachelier, Richard, Altié, Alexandre, Nguyen, Karine, Lévy, Nicolas, Robin, Jérôme D, Magdinier, Frédérique

“…Induced pluripotent stem cells (iPSCs) obtained by reprogramming primary somatic cells have revolutionized the fields of cell biology and disease modeling…”
Get full text

Bring It to an End: Does Telomeres Size Matter? by Laberthonnière, Camille, Magdinier, Frédérique, Robin, Jérôme D

“…Telomeres are unique nucleoprotein structures. Found at the edge of each chromosome, their main purpose is to mask DNA ends from the DNA-repair machinery by…”
Get full text