Results 121 to 130 of about 12,731,337 (303)

New Copy Number Variations in Schizophrenia

PLoS ONE, 2010
Genome-wide screenings for copy number variations (CNVs) in patients with schizophrenia have demonstrated the presence of several CNVs that increase the risk of developing the disease and a growing number of large rare CNVs; the contribution of these rare CNVs to schizophrenia remains unknown.
MAGRI, Chiara, SACCHETTI, Emilio, TRAVERSA, Michele, VALSECCHI, Paolo, GARDELLA, Rita, Bonvicini, C, MINELLI, Alessandra, GENNARELLI, Massimo, BARLATI, Sergio   +8 more
openaire   +5 more sources

Spatial and single‐nuclei transcriptomics reveals idiosyncratic and generic patterns in papillary and anaplastic thyroid cancers

Molecular Oncology, EarlyView.
Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur, Joel Rodrigues Vitória, Manuel Saiselet, Ligia Craciun, Denis Larsimont, Anne Lefort, Frédérick Libert, Carine Maenhaut, Sabine Costagliola, Maxime Tarabichi, Mirian Romitti, Vincent Detours   +11 more
wiley   +1 more source

Copy number variation in bipolar disorder [PDF]

, 2010
This study has provided one of the first glimpses of the possible involvement of copy number variation in the susceptibility to bipolar disorder.EThOS - Electronic Theses Online ServiceGBUnited ...
Grozeva, Detelina
core  

False discovery rates and copy number variation

, 2011
Copy number changes, the gains and losses of chromosome segments, are a common type of genetic variation among healthy individuals as well as an important feature in tumour genomes.
Nancy R. Zhang, Bradley Efron
core   +1 more source

Rare copy number variation in autoimmune Addison’s disease

Frontiers in Immunology
Autoimmune Addison’s disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes ...
Haydee Artaza, Haydee Artaza, Daniel Eriksson, Daniel Eriksson, Ksenia Lavrichenko, Ksenia Lavrichenko, Maribel Aranda-Guillén, Eirik Bratland, Eirik Bratland, Eirik Bratland, Marc Vaudel, Marc Vaudel, Marc Vaudel, Per Knappskog, Per Knappskog, Eystein S. Husebye, Eystein S. Husebye, Sophie Bensing, Sophie Bensing, Anette S. B. Wolff, Anette S. B. Wolff, Anette S. B. Wolff, Olle Kämpe, Ellen C. Røyrvik, Ellen C. Røyrvik, Ellen C. Røyrvik, Stefan Johansson, Stefan Johansson   +27 more
doaj   +1 more source

A comparison of genomic copy number calls by Partek Genomics Suite, Genotyping Console and Birdsuite algorithms to quantitative PCR

BioData Mining, 2011
Background Copy number variants are >1 kb genomic amplifications or deletions that can be identified using array platforms. However, arrays produce substantial background noise that contributes to high false discovery rates of variants.
Grayson Britney L, Aune Thomas M
doaj   +1 more source

Inhibition of cyclin‐dependent kinases 12/13 using CT7439 as a treatment for colorectal cancer with CDK12 upregulation

Molecular Oncology, EarlyView.
The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington, Divya L. Dayanidhi, Mohammad Zokaasadi, John B. Mantyh, Pelumi D. Olawuni, Gabrielle Rupprecht, Jeremy M. Force, Shannon McCall, Ashwani K. Bahl, David S. Hsu, Jason A. Somarelli   +10 more
wiley   +1 more source

Editorial: Copy Number Variation in Rare Disorders

Frontiers in Genetics, 2022
Katalin Komlósi, Attila Gyenesei, Judit Bene   +2 more
doaj   +1 more source

In vitro and in silico modelling of ROS1‐positive non‐small cell lung cancer reveals fusion‐dependent tyrosine kinase inhibitor responses

Molecular Oncology, EarlyView.
Drug resistance limits treatment success in a subset of lung cancers driven by ROS1 gene alterations. Using patient‐derived cells and computer simulations, we studied three key mutations and how they affect five targeted drugs. The mutations reduced drug effectiveness in different ways by altering protein structure and behavior.
Farhan Ul Haq, Marc Terrones, Felicia Rodrigues Fortes, Anne Schepers, Alessia Denis, Christophe Deben, Ken Op de Beeck, Guy Van Camp, Geert Vandeweyer   +8 more
wiley   +1 more source

Rare copy number deletions predict individual variation in intelligence.

PLoS ONE, 2011
Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible ...
Ronald A Yeo, Steven W Gangestad, Jingyu Liu, Vince D Calhoun, Kent E Hutchison   +4 more
doaj   +1 more source