Results 91 to 100 of about 1,224,700 (304)

Glyoxalase 1 copy number variation in patients with well differentiated gastroentero-pancreatic neuroendocrine tumours (GEP-NET) [PDF]

, 2017
Background: The glyoxalase-1 gene (GLO1) is a hotspot for copy-number variation (CNV) in human genomes. Increased GLO1 copy-number is associated with multidrug resistance in tumour chemotherapy, but prevalence of GLO1 CNV in gastro-entero-pancreatic ...
Dimitriadis, Georgios K., Fisk, Adrian, Gopalakrishnan, Kishore, Grammatopoulos, Dimitris, James, Sean G., Kaltsas, Gregory, Qaiser, Talha, Rabbani, Naila, Rajpoot, Nasir M., Shafie, Alaa, Thornalley, Paul J., Weickert, Martin O., Xue, Mingzhan   +12 more
core   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

Germline copy number variation and ovarian cancer survival

Frontiers in Genetics, 2012
Copy number variants (CNVs) have been implicated in many complex diseases. We examined whether inherited CNVs were associated with overall survival among women with invasive epithelial ovarian cancer.
Brooke L Fridley, Prabhakar eChalise, Ya-Yu eTsai, Zhifu eSun, Robert A. Vierkant, Melissa C. Larson, Julie M. Cunningham, Edwin S. Iversen, David eFenstermacher, Jill eBarnholtz-Sloan, Yan eAsmann, Harvey A. Risch, Joellen eSchildkraut, Catherine M. Phelan, Rebecca eSutphen, Thomas A. Sellers, Ellen L. Goode   +16 more
doaj   +1 more source

Copy number variation of the SELENBP1 gene in schizophrenia [PDF]

, 2010
Background Schizophrenia is associated with rare copy-number (CN) mutations. Screening for such alleles genome-wide, though comprehensive, cannot study in-depth the causality of particular loci, therefore cannot provide the functional interpretation for ...
Shirly Amar, Ofer Ovadia, Wolfgang Maier, Richard Ebstein, R H Belmaker, Dan Mishmar, Galila Agam   +6 more
core   +2 more sources

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]

, 2016
Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D., Capra, Valeria, Cheng, Guo, Cherny, Stacey S., De Marco, Patrizia, Garcia-Barcelo, Maria-Mercè, Merello, Elisa, Porsch, Robert M., Rodriguez, Laura, Sham, Pak C., So, Manting, Tam, Paul K.   +11 more
core   +1 more source

Human subtelomeric copy number variations [PDF]

Cytogenetic and Genome Research, 2008
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
openaire   +2 more sources

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Copy number variation in salivary amylase: A participant-based study on genetic variation. [PDF]

The Young Researcher, 2017
Amylase (AMY1) is an enzyme found in the mouth that is used to help digest carbohydrates. It has been found that the copy number of AMY1 has been positively associated with protein levels within an individual and also that individual’s population.
Phillips, E.
doaj  

Gene Co-expression Network and Copy Number Variation Analyses Identify Transcription Factors Associated With Multiple Myeloma Progression [PDF]

, 2019
Multiple myeloma (MM) has two clinical precursor stages of disease: monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). However, the mechanism of progression is not well understood.
Abu Zaid, Mohammad, Han, Zhi, Huang, Kun, Huang, Zhi, Johnson, Travis S., Xiang, Shunian, Yu, Christina Y., Zhan, Xiaohui   +7 more
core   +5 more sources