نتایج جستجو برای: splice variant

تعداد نتایج: 106832  

Journal: :Biochemical and Biophysical Research Communications 2008

Journal: :The Biochemical journal 1996
R J Pleass P D Andrews M A Kerr J M Woof

Receptors for the Fc portion of IgA (Fc alpha R) trigger important immunological elimination processes against IgA-coated targets. Investigation of human Fc alpha R (CD89) transcripts in neutrophils, eosinophils and a monocyte-like cell line, THP-1, with the use of reverse transcriptase PCR, Northern blotting and RNase protection analysis, has provided evidence in these cell types for at least ...

Journal: :Stem Cell Research 2021

Glucagon-like peptide-1 receptor (GLP1R) is a seven-transmembrane-spanning helices membrane protein expressed in multiple human tissues including pancreatic islets, lung, brain, heart and central nervous system (CNS). GLP1R agonists are commonly used as antidiabetic drugs, but neuroprotective function neurodegenerative disorders emerging. Here, we established two iPSC lines from patient harbori...

2012
Meeshanthini Vijayendran Steven R.H. Beach Jeffrey M. Plume Gene H. Brody Robert A. Philibert

Altered regulation of the serotonin transporter (SLC6A4) is hypothesized to be a key event in many forms of neuropsychiatric illness, yet our understanding of the molecular mechanisms through which changes in gene function could lead to illness remains incomplete. In prior studies, we and others have demonstrated that methylation of CpG residues in the promoter associated CpG island alters SLC6...

2010
Juan Li Otor Al-Khalili Semra Ramosevac Douglas C. Eaton Donald D. Denson

Li J, Al-Khalili O, Ramosevac S, Eaton DC, Denson DD. Proteinprotein interaction between cPLA2 and splice variants of -subunit of BK channels. Am J Physiol Cell Physiol 298: C251–C262, 2010. First published November 25, 2009; doi:10.1152/ajpcell.00221.2009.—Altering the splice variant composition of large-conductance Ca -activated potassium (BK) channels can alter their activity and apparent se...

Journal: :Frontiers in Neurology 2023

Objective We aimed to report on previously unappreciated clinical features associated with FOXP1 -related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, disability, and language or without autistic features. Methods performed whole-exome sequencing (WES) molecularly characterize an individual presenting ID, epilepsy, autism...

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