Results 61 to 70 of about 163,521 (283)

Epilepsy in Patients With Angelman Syndrome Caused by Deletion of the Chromosome 15q11-13 [PDF]

Archives of Neurology, 2006
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, speech disorder, stereotyped jerky movements, and a peculiar behavioral profile, with a happy disposition and outbursts of laughter. Most patients with AS present with epilepsy and suggestive electroencephalographic patterns, which may be used as diagnostic ...
Kette D, Valente, Célia P, Koiffmann, Cíntia, Fridman, Mônica, Varella, Fernando, Kok, Joaquina Queiroz, Andrade, Rosi M, Grossmann, Maria Joaquina, Marques-Dias   +7 more
openaire   +2 more sources

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Identification of two distinct deleted regions on chromosome 13 in prostate cancer [PDF]

Oncogene, 1998
Aberrations of 13q occur frequently in prostate cancer and this chromosome contains two known tumor suppressor genes, BRCA2 and Rb1. This study analysed 13q LOH, DNA ploidy, BRCA2 mutation and pRb expression in prostate cancers. In total, 13q deletions were found in 18 of 36 tumors but did not correlate with histological grade, stage or DNA ploidy. Two
C, Li, C, Larsson, A, Futreal, J, Lancaster, C, Phelan, U, Aspenblad, B, Sundelin, Y, Liu, P, Ekman, G, Auer, U S, Bergerheim   +10 more
openaire   +2 more sources

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Clustering of deletions on chromosome 13 in benign and low‐malignant lipomatous tumors [PDF]

International Journal of Cancer, 2002
AbstractDeletions and structural rearrangements of the long arm of chromosome 13 are frequently observed in benign and low‐malignant lipomatous tumors, but nothing is known about their molecular genetic consequences. We assessed the karyotypes of 40 new and 22 previously published cases (35 ordinary lipomas, 15 spindle cell/pleomorphic lipomas, 2 ...
Anna, Dahlén, Maria, Debiec-Rychter, Florence, Pedeutour, Henryk A, Domanski, Mattias, Höglund, Henrik C F, Bauer, Anders, Rydholm, Raf, Sciot, Nils, Mandahl, Fredrik, Mertens   +9 more
openaire   +2 more sources

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Modeling the evolution space of breakage fusion bridge cycles with a stochastic folding process [PDF]

, 2015
Breakage-Fusion-Bridge cycles in cancer arise when a broken segment of DNA is duplicated and an end from each copy joined together. This structure then 'unfolds' into a new piece of palindromic DNA.
B McClintock, BJ Raphael, BJ Raphael, C Alkan, C Lemaitre, C Xie, C. D. Greenman, CD Greenman, CD Greenman, D Sankoff, ED Pleasance, ED Pleasance, G Klambauer, GR Bignell, GR Bignell, J Neggers, J. Marshall, JL Bentley, M Kinsella, M. R. Stratton, P Loo Van, P. J. Campbell, PJ Campbell, S Zakov, S. L. Cooke   +24 more
core   +2 more sources

A Bifunctional T3SS‐Effector Simultaneously Cleaves Host MAP Kinase and Inhibits PPM1A Phosphatase

Advanced Science, EarlyView.
Pathogenic bacteria exploit the metalloprotease effector NleD to subvert host defenses. Structural, biochemical, and infection analyses reveal a bifunctional mechanism by which NleD binds and inhibits the host phosphatase PPM1A while preserving its proteolytic activity against MAPKs.
Yaakov Socol, Lihi Gur‐Arie, Netanel Tzarum, Tamara Wellins, Naama Katsowich, Miriam Ravins, Michal Bejerano‐Sagie, Klil Cohen, Oded Livnah, Joshua N. Adkins, Ernesto Nakayasu, Alexei Savchenko, Yeu Khai Choong, Nikhil Kumar Tulsian, Saturo Machida, Sigal Ben‐Yehuda, Yael Litvak, J. Sivaraman, Ilan Rosenshine   +18 more
wiley   +1 more source

Case report: The smallest 9p21.3 microdeletion involving CDKN2A but not CDKN2B causes multiple plexiform neurofibromas

Frontiers in Oncology
Chromosome 9p21.3 is a locus associated with a rare autosomal dominant cancer predisposition syndrome characterized by early-onset melanoma and a broad spectrum of neural system tumors.
Yuanyuan Zhang, Xiang Li, Haiming Gao, Chuang Qiu, Xiaoliang Liu, Xiaoliang Liu   +5 more
doaj   +1 more source

Radiation-induced myeloid leukemia in murine models. [PDF]

, 2014
The use of radiation therapy is a cornerstone of modern cancer treatment. The number of patients that undergo radiation as a part of their therapy regimen is only increasing every year, but this does not come without cost.
Davoren, Michael, Rivina, Leena, Schiestl, Robert H   +2 more
core   +2 more sources