Results 71 to 80 of about 173,415,106 (290)

Loss of heterozygosity at 7p in Wilms’ tumour development [PDF]

British Journal of Cancer, 2000
Chromosome 7p alterations have been implicated in the development of Wilms' tumour (WT) by previous studies of tumour cytogenetics, and by our analysis of a constitutional translocation (t(1;7)(q42;p15)) in a child with WT and radial aplasia. We therefore used polymorphic microsatellite markers on 7p for a loss of heterozygosity (LOH) study, and found ...
Powlesland, R M, Charles, A K, Malik, K T A, Reynolds, P A, Pires, S, Boavida, M, Brown, K W   +6 more
openaire   +2 more sources

Dactolisib outperforms Rapamycin in potentiating apoptosis induced by XPO1, Bcl‐2 and Mcl‐1 blockade in preclinical glioblastoma models

FEBS Open Bio, EarlyView.
The PAM pathway and its impact on cellular metabolism. Color‐coded key symbols represent Rapamycin (R, orange, targeting mTOR) and Dactolisib (D, green, targeting PI3K/mTOR), indicating their sites of action. Created with BioRenders.com. Glioblastoma resists therapy through interconnected survival programs.
Kai Zhao, Leonie Meyer, Madita Braun, Katharina Otte, Celine Bitter, Maite Pawlik, Hartmann Raifer, Frederik Helmprobst, Axel Pagenstecher, Hans Urban, Michael C. Burger, Michael W. Ronellenfitsch, Joachim P. Steinbach, Jarmila Jedelská, Shamim Bagheri, Behrooz H. Yousefi, Pietro Di Fazio, Markus Luster, Andreas H. Mahnken, Andreas Neubauer, Andreas Burchert, Christopher Nimsky, Jörg W. Bartsch, Tillmann Rusch   +23 more
wiley   +1 more source

Relationship of microsatellite instability to mismatch repair deficiency in malignant tumors of dogs

Journal of Veterinary Internal Medicine, 2022
Background Microsatellite instability (MSI) is a type of genomic instability caused by mismatch repair deficiency (dMMR) in tumors. Studies on dMMR/MSI are limited, and the relationship between dMMR and MSI is unknown in tumors of dogs.
Sakuya Inanaga, Masaya Igase, Yusuke Sakai, Kenji Hagimori, Hiroshi Sunahara, Hiro Horikirizono, Kazuhito Itamoto, Kenji Baba, Yoshiharu Ohsato, Takuya Mizuno   +9 more
doaj   +1 more source

Loss of heterozygosity in lobular carcinoma in situ of the breast [PDF]

Clinical Molecular Pathology, 1995
Aims-(1) To investigate whether loss of heterozygosity identified at various loci in invasive breast carcinoma or is present in lobular carcinoma in situ (LCIS). (2) To investigate whether LCIS is a monoclonal (neoplastic) or a polyclonal (hyperplastic) proliferation.Methods-Forty three cases of LCIS (30 with associated invasive carcinoma or in situ ...
LAKHANI,, COLLINS, N, SLOANE, JP, STRATTON, MR   +3 more
openaire   +4 more sources

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Loss of expression and promoter methylation of SLIT2 are associated with sessile serrated adenoma formation.

PLoS Genetics, 2013
Serrated adenomas form a distinct subtype of colorectal pre-malignant lesions that may progress to malignancy along a different molecular pathway than the conventional adenoma-carcinoma pathway.
Andrew D Beggs, Angela Jones, Neil Shepherd, Abed Arnaout, Caroline Finlayson, A Muti Abulafi, Dion G Morton, Glenn M Matthews, Shirley V Hodgson, Ian P M Tomlinson   +9 more
doaj   +1 more source

Analysis of loss of heterozygosity of the tumor suppressor genes p53 and BRCA1 in ovarial carcinomas [PDF]

Vojnosanitetski Pregled, 2006
Background/aim: Among the genes involved in ovarian carcinogenesis, there has been increased interest in tumor-suppressor genes p53 and BRCA1. Both of the genes make control of cell cycle, DNA repair and apoptosis.
Luković Ljiljana, Popović Branka, Atanacković Jasmina, Novaković Ivana, Perović Milica, Petrović Bojana, Petković Spasoje   +6 more
doaj   +1 more source

No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple Osteochondromas [PDF]

The American Journal of Pathology, 2010
Multiple osteochondromas (MO) is an autosomal dominant disorder caused by germline mutations in EXT1 and/or EXT2. In contrast, solitary osteochondroma (SO) is nonhereditary. Products of the EXT gene are involved in heparan sulfate (HS) biosynthesis. In this study, we investigated whether osteochondromas arise via either loss of heterozygosity (2 hits ...
Reijnders, C.M.A., Waaijer, C.J.F., Hamilton, A., Buddingh, E.P., Dijkstra, S.P.D., Ham, J., Bakker, E., Szuhai, K., Karperien, M., Hogendoorn, P.C.W., Stringer, S.E., Bovee, J.V.M.G.   +11 more
openaire   +4 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source