Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Caroline J. Woo"'
Autor:
Darshan Parekh, Jill S. Napierala, Jonathan J Cherry, Xiulong Shen, Balkrishen Bhat, Caroline J. Woo, David R. Corey, Jixue Li, David A. Lynch, Jun Wang, Yanjie Li, Marek Napierala
Publikováno v:
Nucleic Acids Research
Friedreich’s ataxia (FRDA) is a severe multisystem disease caused by transcriptional repression induced by expanded GAA repeats located in intron 1 of the Frataxin (FXN) gene encoding frataxin. FRDA results from decreased levels of frataxin; thus,
Autor:
Caroline J. Woo, Ayed Allawzi, Nicholas Clark, Neha Kaushal, Tim Efthymiou, Maike Thamsen, Jane Nguyen, Richard Wooster, James C. Sullivan
Publikováno v:
Pulmonary Pharmacology & Therapeutics. 75:102134
Primary ciliary dyskinesia (PCD) is a respiratory disease caused by dysfunction of the cilia with currently no approved treatments. This predominantly autosomal recessive disease is caused by mutations in any one of over 50 genes involved in cilia fu
Autor:
Caroline J. Woo, Verena K. Maier, Roshni Davey, James Brennan, Guangde Li, John Brothers, Brian Schwartz, Susana Gordo, Anne Kasper, Trevor R. Okamoto, Hans E. Johansson, Berhan Mandefro, Dhruv Sareen, Peter Bialek, B. Nelson Chau, Balkrishen Bhat, David Bullough, James Barsoum
Publikováno v:
Proceedings of the National Academy of Sciences. 114
Significance Autosomal recessive mutations or deletions of the gene Survival Motor Neuron 1 ( SMN1 ) cause spinal muscular atrophy, a neurodegenerative disorder. Transcriptional up-regulation of a nearly identical gene, SMN2 , can functionally compen
Autor:
Caroline J. Woo
Publikováno v:
Topics in Medicinal Chemistry ISBN: 9783319680903
While only 1–2% of the human genome is dedicated to protein-coding genes, much of the genome is actively transcribed. Long noncoding RNAs (lncRNAs) are a subset of noncoding RNAs that arise from this “dark matter.” They are involved in nearly e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71324a4ca3fc551a1ba4aae0eade68d5
https://doi.org/10.1007/7355_2017_25
https://doi.org/10.1007/7355_2017_25
Publikováno v:
Molecular and Cellular Biology. 33:3274-3285
Polycomb group (PcG)-mediated repression is an evolutionarily conserved process critical for cell fate determination and maintenance of gene expression during embryonic development. However, the mechanisms underlying PcG recruitment in mammals remain
Autor:
Priyanka D. Abeyrathne, Ji-Joon Song, Marcy E. MacDonald, Caroline J. Woo, Thomas Walz, Ihn Sik Seong, Ronald A. Conlon, Robert E. Kingston, Gillian C. Gregory, Vanessa C. Wheeler, Alejandro Lloret, Jong-Min Lee, James F. Gusella, Juliana M. Woda
Publikováno v:
Human Molecular Genetics
Huntington's disease (HD) is caused by expansion of the polymorphic polyglutamine segment in the huntingtin protein. Full-length huntingtin is thought to be a predominant HEAT repeat alpha-solenoid, implying a role as a facilitator of macromolecular
Autor:
Philip Bardwell, Alberto Martin, Vladimir Poltoratsky, Matthew D. Scharff, Caroline J. Woo, Wei Zhang
Publikováno v:
International Immunology. 13:1175-1184
Affinity maturation of the humoral immune response is caused by single base changes that are introduced into the V regions of the Ig genes during a brief period of B cell differentiation. It has recently become possible to study V region mutation in
Autor:
Kyriakos A. Kirou, Mary K. Crow, Mary Koshy, Caroline J. Woo, Radha Krishna Vakkalanka, Douglas Berger
Publikováno v:
Arthritis & Rheumatism. 42:871-881
Objective To measure soluble CD40 ligand (sCD40L) in sera from patients with systemic lupus erythematosus (SLE) and to study the functional capacity of sCD40L in mediating B cell activation. Methods A 2-site enzyme-linked immunosorbent assay (ELISA)
Autor:
Robert E. Kingston, Caroline J. Woo
Publikováno v:
Cell. 129:1257-1259
It is not clear to what extent noncoding RNAs regulate the homeobox (HOX) genes that encode key regulators of development in the embryo. In this issue, Rinn et al. (2007) characterize noncoding RNAs that regulate HOX genes and discover one, HOTAIR, t
Autor:
John Mascarenhas, Elaine J. Schattner, Mary Koshy, Steven M. Friedman, Mary K. Crow, Caroline J. Woo, Inna Reyfman
Publikováno v:
Blood. 91:2689-2697
Chronic lymphocytic leukemia (CLL) is characterized by a clonal expansion of CD5+ B cells in the peripheral blood. Associated immune aberrations include abnormal Th-cell function and pathogenic autoantibodies. Under most circumstances, CLL B cells do