Results 161 to 170 of about 1,002,198 (296)

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

, 2008
Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation.
Kim, Hyung-Goo, Farra, Chantal G., Korf, Bruce R, Moore, Steven D.P., Lu, Weining, Shendure, Jay, Ferguson, Heather L., MacDonald, Marcy E, MacDonald, Marcy E., Peters, Roxanna E., Alkuraya, Fowzan S, Herrick, Steven R, Gusella, James F, Moore, Steven D P, Morton, Cynthia C., Maas, Richard L., Peters, Roxanna E, Eisenman, Robert, Harris, David J, Quade, Bradley J, Kishikawa, Shotaro, Gusella, James F., Quintero-Rivera, Fabiola, Kulkarni, Shashikant, Alkuraya, Fowzan S., Saadi, Irfan, Donovan, Diana J, Leach, Natalia T, Herrick, Steven R., Leach, Natalia T., Bosco, Amy F., Brown, Kerry K, Bruns, Gail A.P., Ferguson, Heather L, Lally, Eric, Bosco, Amy F, Shen, Yiping, Harris, David J., Lewis, Janine, Higgins, Anne W., Williamson, Robin E., Morton, Cynthia C; id_orcid, Brown, Kerry K, PhD, Higgins, Anne W, Morton, Cynthia C, Lemyre, Emma, Williamson, Robin E, Maas, Richard L, Kelly, Chantal, Ligon, Azra H., Farra, Chantal G, Korf, Bruce R., Brown, Kerry K., Quade, Bradley J., Ligon, Azra H, Donovan, Diana J., Bruns, Gail A P, Fan, Yanli   +57 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

The Growth Supporting Role of ZDHHC11 Is Linked to the MEF2B–BCL6 Regulatory Circuit in Burkitt Lymphoma

International Journal of Cancer, EarlyView.
MEF2B and BCL6 have established functions in germinal center B‐cell biology and lymphomagenesis. The mechanism of MEF2B deregulation and its significance for cell survival in Burkitt lymphoma however remain unclear. This study highlights MEF2B as a crucial transcription factor in Burkitt lymphoma and suggests ZDHHC11 as an upstream regulator of MEF2B ...
Lotteke J. Y. M. Ziel‐Swier, Karolina Rassek, Yichen Liu, Annika Seitz, Jasper Koerts, Debora de Jong, Bea Rutgers, Anastasiia Kompaniiets, Julia Przybył, Martine E. D. Chamuleau, Anke van den Berg, Agnieszka Dzikiewicz‐Krawczyk, Joost Kluiver   +12 more
wiley   +1 more source

In silico reconstruction of chromosomal rearrangements and an avian ancestral karyotype

, 2014
The recent availability of whole genome assemblies for multiple bird species has changed the way we can detect and describe patterns of avian genome evolution.
O'Connor, Rebecca, Farré-Belmonte, Marta, Larkin, Denis M, Fowler, Katie E, Romanov, Michael N, Lithgow, Pamela E, Griffin, Darren K.   +6 more
core  

Novel gene rearrangements in transformed breast cells identified by high-resolution breakpoint analysis of chromosomal aberrations

, 2010
Chromosomal copy number alterations and chromosomal rearrangements are frequent mutations in human cancer. Unlike copy number alterations, little is known about the role and occurrence of chromosomal rearrangements in breast cancer.
O'Brien, Patricia C. M., Gray, Lindsey, Jackl, Gerhard, Ferguson-Smith, Malcolm, Hieber, Ludwig, Walch, Axel, Brown, Andreas, Briscoe, Caecilia, Zitzelsberger, Horst, Unger, Kristian, O'Brien, Patricia C M, Rodriguez, Elke, Briscoe, Cäcilia, Gray, Lindsey Jane, Wienberg, Johannes, Tallini, Giovanni, Riches, Andrew, Walch, Axel Karl, Knijnenburg, Jeroen, Riches, Andrew Clive   +19 more
core   +1 more source

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, EarlyView.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia

International Journal of Cancer, EarlyView.
Acute myeloid leukemia adult cases often appear cytogenetically normal when analyzed with conventional karyotyping. However, acquired structural variants may escape routine detection. Here, optical genome mapping detected diverse genomic alterations in nearly half of the analyzed cytogenetically normal cases.
Tuuni Turtinen, Andriana Valkama, Christopher Wray, Sandra Vorimo, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +7 more
wiley   +1 more source

Genomic epidemiology and lineage‐specific risk stratification of tet(X4)‐mediated tigecycline resistance along the pork production chain: A One Health perspective

iMetaOmics, EarlyView.
Genome surveillance across a swine‐associated One Health continuum in China shows that slaughterhouses act as major enrichment nodes for tet(X4)‐mediated tigecycline resistance, driven by putative clonal transmission and stable plasmid backbones. Integrating global datasets enables lineage‐specific risk stratification, highlighting key control points ...
Qin Wang, Qiwu Yuan, Xuan Chen, Yujing Zhong, Ke Wu, Renqiao Wen, Luya Liu, Xiaoqin Wang, Cui Li, Hongning Wang, Changwei Lei   +10 more
wiley   +1 more source

Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements

Communications Biology
CRISPR-based genome editing of pseudogene-associated disorders, such as p47 phox -deficient chronic granulomatous disease (p47 CGD), is challenged by chromosomal rearrangements due to presence of multiple targets.
Federica Raimondi, Kah Mun Siow, Dominik Wrona, Carla Fuster-García, Oleksandr Pastukhov, Michael Schmitz, Katja Bargsten, Lucas Kissling, Daan C. Swarts, Geoffroy Andrieux, Toni Cathomen, Ute Modlich, Martin Jinek, Ulrich Siler, Janine Reichenbach   +14 more
doaj   +1 more source

The T‐Cell Response Mechanism in Human Papillomavirus‐Associated Cervical Cancer and New Strategies for Immunotherapy

iNew Medicine, EarlyView.
ABSTRACT Human papillomavirus (HPV) is a double‐stranded DNA virus that infects human skin and mucosal tissues exclusively. The German scientist Harald zur Hausen was awarded the 2008 Nobel Prize in Physiology or Medicine for his discovery of the link between HPV infection and cervical cancer.
Fang Zhu, Farah Nazir, Ying Zhou, Yuhua Shang, Hongliang He, Tengchuan Jin   +5 more
wiley   +1 more source