Search Results - "Arlt, Martin"

Fragile sites in cancer: more than meets the eye by Glover, Thomas W., Wilson, Thomas E., Arlt, Martin F.

“…This Opinion article discusses recent studies that have provided new insights into the mechanisms of common fragile site instability and the resulting genomic…”
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Large transcription units unify copy number variants and common fragile sites arising under replication stress by Wilson, Thomas E, Arlt, Martin F, Park, So Hae, Rajendran, Sountharia, Paulsen, Michelle, Ljungman, Mats, Glover, Thomas W

“…Copy number variants (CNVs) resulting from genomic deletions and duplications and common fragile sites (CFSs) seen as breaks on metaphase chromosomes are…”
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Replication stress and mechanisms of CNV formation by Arlt, Martin F, Wilson, Thomas E, Glover, Thomas W

“…Copy number variants (CNVs) are widely distributed throughout the human genome, where they contribute to genetic variation and phenotypic diversity. De novo…”
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De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining by Arlt, Martin F, Rajendran, Sountharia, Birkeland, Shanda R, Wilson, Thomas E, Glover, Thomas W

“…Spontaneous copy number variant (CNV) mutations are an important factor in genomic structural variation, genomic disorders, and cancer. A major class of CNVs,…”
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Locus-specific transcription silencing at the FHIT gene suppresses replication stress-induced copy number variant formation and associated replication delay by Park, So Hae, Bennett-Baker, Pamela, Ahmed, Samreen, Arlt, Martin F, Ljungman, Mats, Glover, Thomas W, Wilson, Thomas E

“…Abstract Impaired replication progression leads to de novo copy number variant (CNV) formation at common fragile sites (CFSs). We previously showed that these…”
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Hydroxyurea induces de novo copy number variants in human cells by Arlt, Martin F, Ozdemir, Alev Cagla, Birkeland, Shanda R, Wilson, Thomas E, Glover, Thomas W

“…Copy number variants (CNVs) are widely distributed throughout the human genome, where they contribute to genetic variation and phenotypic diversity…”
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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations by Lessel, Davor, Ozel, Ayse Bilge, Campbell, Susan E., Saadi, Abdelkrim, Arlt, Martin F., McSweeney, Keisha Melodi, Plaiasu, Vasilica, Szakszon, Katalin, Szőllős, Anna, Rusu, Cristina, Rojas, Armando J., Lopez-Valdez, Jaime, Thiele, Holger, Nürnberg, Peter, Nickerson, Deborah A., Bamshad, Michael J., Li, Jun Z., Kubisch, Christian, Glover, Thomas W., Gordon, Leslie B.

“…Juvenile segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ…”
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A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome by Bar, Daniel Z, Arlt, Martin F, Brazier, Joan F, Norris, Wendy E, Campbell, Susan E, Chines, Peter, Larrieu, Delphine, Jackson, Stephen P, Collins, Francis S, Glover, Thomas W, Gordon, Leslie B

“…Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a…”
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Replication stress induces tumor-like microdeletions in FHIT/FRA3B by Durkin, Sandra G, Ragland, Ryan L, Arlt, Martin F, Mulle, Jennifer G, Warren, Stephen T, Glover, Thomas W

“…Common fragile sites (CFSs) are loci that preferentially exhibit metaphase chromosome gaps and breaks after partial inhibition of DNA synthesis. The fragile…”
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Copy number variants are produced in response to low-dose ionizing radiation in cultured cells by Arlt, Martin F., Rajendran, Sountharia, Birkeland, Shanda R., Wilson, Thomas E., Glover, Thomas W.

“…Despite their importance to human genetic variation and disease, little is known about the molecular mechanisms and environmental risk factors that impact copy…”
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Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants by Arlt, Martin F., Mulle, Jennifer G., Schaibley, Valerie M., Ragland, Ryan L., Durkin, Sandra G., Warren, Stephen T., Glover, Thomas W.

“…Copy number variants (CNVs) are an important component of genomic variation in humans and other mammals. Similar de novo deletions and duplications, or copy…”
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ATR Regulates Fragile Site Stability by Casper, Anne M., Nghiem, Paul, Arlt, Martin F., Glover, Thomas W.

“…Conditions that partially inhibit DNA replication induce expression of common fragile sites. These sites form gaps and breaks on metaphase chromosomes and are…”
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Genomic Structure, Evolutionary Origins, and Reproductive Function of a Large Amplified Intrinsically Disordered Protein-Coding Gene on the X Chromosome ( Laidx ) in Mice by Arlt, Martin F, Brogley, Michele A, Stark-Dykema, Evan R, Hu, Yueh-Chiang, Mueller, Jacob L

“…Mouse sex chromosomes are enriched for co-amplified gene families, present in tens to hundreds of copies. Co-amplification of / on the X chromosome and on the…”
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Effects of hydroxyurea on CNV induction in the mouse germline by Arlt, Martin F., Rajendran, Sountharia, Holmes, Sandra N., Wang, Kathleen, Bergin, Ingrid L., Ahmed, Samreen, Wilson, Thomas E., Glover, Thomas W.

“…Copy number variants (CNVs) are important in genome variation and genetic disease, with new mutations arising frequently in the germline and somatic cells…”
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Mechanisms of common fragile site instability by Glover, Thomas W., Arlt, Martin F., Casper, Anne M., Durkin, Sandra G.

“…The study of common fragile sites has its roots in the early cytogenetic investigations of the fragile X syndrome. Long considered an interesting component of…”
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Mutations in FOXC2 ( MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome by Fang, Jianming, Dagenais, Susan L., Erickson, Robert P., Arlt, Martin F., Glynn, Michael W., Gorski, Jerome L., Seaver, Laurie H., Glover, Thomas W.

“…Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphedema of the limbs, with variable age at onset, and double…”
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Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites by Arlt, Martin F., Glover, Thomas W.

“…Common fragile sites are loci that preferentially form gaps and breaks on metaphase chromosomes when DNA synthesis is perturbed, particularly after treatment…”
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The SNM1B/APOLLO DNA nuclease functions in resolution of replication stress and maintenance of common fragile site stability by Mason, Jennifer M, Das, Ishita, Arlt, Martin, Patel, Neil, Kraftson, Stephanie, Glover, Thomas W, Sekiguchi, JoAnn M

“…SNM1B/Apollo is a DNA nuclease that has important functions in telomere maintenance and repair of DNA interstrand crosslinks (ICLs) within the Fanconi anemia…”
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BRCA1 Is Required for Common-Fragile-Site Stability via Its G2/M Checkpoint Function by Arlt, Martin F., Xu, Bo, Durkin, Sandra G., Casper, Anne M., Kastan, Michael B., Glover, Thomas W.

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing by Arlt, Martin F, Ozdemir, Alev Cagla, Birkeland, Shanda R, Lyons, Jr, Robert H, Glover, Thomas W, Wilson, Thomas E

“…Copy-number variants (CNVs) are a major source of genetic variation in human health and disease. Previous studies have implicated replication stress as a…”
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