Results 51 to 60 of about 453,665 (301)

Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

open access: yesMolecular Cytogenetics, 2021
Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations.
Qiao-Yan Shao   +5 more
doaj   +1 more source

Paxilline negative mutants of Penicillium paxilli generated by heterologous and homologous plasmid integration : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Molecular Genetics at Massey University, Palmerston North, New Zealand [PDF]

open access: yes, 1998
Using a monoclonal antibody-based ELISA, 600 pAN7-1 plasmid-tagged mutants of Penicillium paxilli were screened for paxilline accumulation and one paxilline negative mutant, YI-20, was identified (Itoh, unpublished data).
Young, Carolyn Anne
core  

Combined flow cytometry and high-throughput image analysis for the study of essential genes in Caenorhabditis elegans [PDF]

open access: yes, 2018
Background: Advances in automated image-based microscopy platforms coupled with high-throughput liquid workflows have facilitated the design of large-scale screens utilising multicellular model organisms such as Caenorhabditis elegans to identify genetic
Artal Sanz, Marta   +10 more
core   +1 more source

Autophagy gene haploinsufficiency drives chromosome instability, increases migration, and promotes early ovarian tumors. [PDF]

open access: yes, 2020
Autophagy, particularly with BECN1, has paradoxically been highlighted as tumor promoting in Ras-driven cancers, but potentially tumor suppressing in breast and ovarian cancers.
Axelrod, Joshua   +14 more
core   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

open access: yesMolecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon   +9 more
wiley   +1 more source

Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region

open access: yesClinical Case Reports, 2018
Key Clinical Message Jacobsen syndrome (JS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb.
Surasak Puvabanditsin   +5 more
doaj   +1 more source

Dynamic clonal progression in xenografts of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 [PDF]

open access: yes, 2018
Intrachromosomal amplification of chromosome 21 is a heterogeneous chromosomal rearrangement occurring in 2% of childhood precursor B-cell acute lymphoblastic leukemia.
Bashton, Matthew   +18 more
core   +3 more sources

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

open access: yesMolecular 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

Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

open access: yesCase Reports in Genetics, 2012
We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome.
Norma Elena de León Ojeda   +3 more
doaj   +1 more source

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

open access: yesMolecular 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   +6 more
wiley   +1 more source

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