Results 51 to 60 of about 66,664 (302)

Analysis of chromosomal aberrations and recombination by allelic bias in RNA-Seq

Nature Communications, 2016
Chromosomal aberrations can be detected by global gene expression analysis. Here, the authors report eSNP-Karyotyping, a new method that can detect chromosomal aberrations by measuring the ratio of expression between the two alleles without comparison to
Uri Weissbein, Maya Schachter, Dieter Egli, Nissim Benvenisty   +3 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Breakpoint sites disclose the role of the V(D)J recombination machinery in the formation of T-cell receptor (TCR) and non-TCR associated aberrations in T-cell acute lymphoblastic leukemia

Haematologica, 2013
Aberrant recombination between T-cell receptor genes and oncogenes gives rise to chromosomal translocations that are genetic hallmarks in several subsets of human T-cell acute lymphoblastic leukemias.
Nicole S.D. Larmonie, Willem A. Dik, Jules P.P. Meijerink, Irene Homminga, Jacques J.M. van Dongen, Anton W. Langerak   +5 more
doaj   +1 more source

CHROMOSOMAL ANALYSIS OF MENTALLY RETARDED CHILDREN WITH MICROCEPHALY [PDF]

, 2011
Background: Mental retardation is a common condition with the incidence of 1- 3% of the entire population; about 25% - 50% of them are genetic causes. Chromosomal causes account for up to 28%.
Afadiyanti, Alfi, Rusdi, Wiyosa Waluyan, Putra, Farmaditya Eka   +2 more
core  

Chromosome breakpoint distribution of damage induced in peripheral blood lymphocytes by densely ionising radiation

, 2006
Purpose: To assess the chromosomal breakpoint distribution in human peripheral blood lymphocytes (PBL) after exposure to a low dose of high linear energy transfer (LET) α-particles using the technique of multiplex fluorescence in situ hybridisation (m ...
Anderson, RM, Papworth, DG, Sumption, ND, Goodhead, DT   +3 more
core   +1 more source

Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers

Molecular Oncology, EarlyView.
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel, Peyman Zarrineh, Nathnael T. Tuffa, Jigar H. Sheth, Sumitra Mohan, Mudassar Iqbal, Sankari Nagarajan   +6 more
wiley   +1 more source

A cytogenetic study of couples with repeated spontaneous abortions

Annals of Saudi Medicine, 2011
Background and Objective : The frequency of chromosomal aberrations in Iran is not definitely known. This study determined the frequency of chromosomal aberrations in a series of couples with two or more spontaneous abortions and compared the findings ...
Niroumanesh Shirin, Mehdipour Parvin, Farajpour Ali, Darvish Soodabeh   +3 more
doaj  

The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study

Asian Journal of Andrology, 2020
Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear.
Hong-Ge Li, Li-Hong Fan, Bei Liu, Ye-Qing Qian, Min Chen, Yi-Xi Sun, Min-Yue Dong   +6 more
doaj   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Chromosomal aberrations in cerebral visual impairment

, 2014
Item does not contain fulltextBACKGROUND: Cerebral visual impairment (CVI) is a disorder in projection and/or interpretation of the visual input in the brain and accounts for 27% of the visually impaired children. AIM: A large cohort of patients with CVI
Vries, L.B.A. de, Cremers, F.P.M., Reijnders, M.R., Boonstra, F.N., Pfundt, R.P., Bosch, D.G.M.   +5 more
core   +1 more source