Results 111 to 120 of about 517,834 (299)

Mitochondrial Copy Number and D-Loop Variants in Pompe Patients

Cell Journal, 2016
Objective: Pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. Over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of ...
Fatemeh Bahreini, Massoud Houshmand, Mohammad Hossein Modaresi, Hassan Tonekaboni, Shahriar Nafissi, Ferdoss Nazarisi, Seyed Mohammad Akrami   +6 more
doaj  

Comparison of autism domains across thirty rare variant genotypesResearch in context

EBioMedicine
Summary: Background: A number of Neurodevelopmental risk Copy Number Variants (ND-CNVs) and Single Gene Variants (SGVs) are strongly linked to elevated likelihood of autism.
Nabila M.H. Ali, Samuel J.R.A. Chawner, Leila Kushan-Wells, Carrie E. Bearden, Jennifer Gladys Mulle, Rebecca M. Pollak, Raquel E. Gur, Wendy K. Chung, Michael J. Owen, Marianne B.M. van den Bree, Harriet Housby, Irene Lee, David Skuse, Jeanne Wolstencroft, William Mandy, Spiros Denaxas, Kate Baker, Lucy Raymond, Marianne van den Bree, Samuel Chawner, Jeremy Hall, Peter Holmans, Josh Hope-Bell, Danielle Le Roux, Sally Morrin, Michael Owen, Shreeya Sivakumar   +26 more
doaj   +1 more source

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion [PDF]

, 2013
Funding Information No funding information provided.
Agata Minor, Beth A. Kozel, Carrie Fitzpatrick, Christopher A. Tan, Daniela Del Gaudio, Darrel Waggoner, De Lange, Dorothy K. Grange, Kelly Arndt, Latrice Wysinger, Nathaniel H. Robin, Soma Das, Yu-wei Cheng   +12 more
core   +2 more sources

Copy number variants in absence epilepsy [PDF]

Neurology Genetics, 2016
After years of largely unsuccessful association studies attempting to detect genetic variants underlying common epilepsies, the recent identification of copy number variants (CNVs) in epilepsy has generated a lot of excitement. CNVs are defined as genomic deletions or duplications larger than 1 kb and up to several Mb in size.
openaire   +2 more sources

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

Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humans. [PDF]

, 2019
The immunoglobulin heavy variable (IGHV) and T cell beta variable (TRBV) loci are among the most complex and variable regions in the human genome.
Li, Heng, Luo, Shishi, Song, Yun, Yu, Jane   +3 more
core  

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

Neurologic Features with Pathogenic Copy Number Variants

Pediatric Neurology Briefs, 2020
Investigators from Children's Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].
openaire   +4 more sources

Targeted modulation of IGFL2‐AS1 reveals its translational potential in cervical adenocarcinoma

Molecular Oncology, EarlyView.
Cervical adenocarcinoma patients face worse outcomes than squamous cell carcinoma counterparts despite similar treatment. The identification of IGFL2‐AS1's differential expression provides a molecular basis for distinguishing these histotypes, paving the way for personalized therapies and improved survival in vulnerable populations globally.
Ricardo Cesar Cintra, Lucca Paolo Hsu Helmich, Daniel Rodrigues de Bastos, Laura Sichero, Patrícia Savio de Araujo‐Souza, Fabio Passetti, Luisa Lina Villa   +6 more
wiley   +1 more source