Williams syndrome
Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as
1: 7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at …
1: 7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at …
[HTML][HTML] Physiology and pathophysiology of canonical transient receptor potential channels
J Abramowitz, L Birnbaumer - The FASEB Journal, 2009 - ncbi.nlm.nih.gov
The existence of a mammalian family of TRPC ion channels, direct homologues of TRP, the
visual transduction channel of flies, was discovered during 1995–1996 as a consequence of …
visual transduction channel of flies, was discovered during 1995–1996 as a consequence of …
Mass spectrometry: bottom-up or top-down?
BT Chait - Science, 2006 - science.org
The current revolution in proteomics and systems biology is driven by new analytical tools
that are both fast and sensitive. Among these tools, mass spectrometry has become the …
that are both fast and sensitive. Among these tools, mass spectrometry has become the …
Williams syndrome
CA Morris, CB Mervis - Cassidy and Allanson's Management of …, 2021 - Wiley Online Library
Williams syndrome has been variably termed Williams–Beuren syndrome, idiopathic
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …
Lipid rafts/caveolae as microdomains of calcium signaling
Ca2+ is a major signaling molecule in both excitable and non-excitable cells, where it
serves critical functions ranging from cell growth to differentiation to cell death. The …
serves critical functions ranging from cell growth to differentiation to cell death. The …
Hyperforin—a key constituent of St. John's wort specifically activates TRPC6 channels
K Leuner, V Kazanski, M Muller, K Essin… - The FASEB …, 2007 - Wiley Online Library
Hyperforin, a bicyclic polyprenylated acylphloroglucinol derivative, is the main active
principle of St. John's wort extract responsible for its anti‐depressive profile. Hyperforin …
principle of St. John's wort extract responsible for its anti‐depressive profile. Hyperforin …
Arrestin-biased AT1R agonism induces acute catecholamine secretion through TRPC3 coupling
Acute hormone secretion triggered by G protein-coupled receptor (GPCR) activation
underlies many fundamental physiological processes. GPCR signalling is negatively …
underlies many fundamental physiological processes. GPCR signalling is negatively …
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations
Abstract Autism Spectrum Disorder (ASD) is characterized mainly by social and sensory-
motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of …
motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of …
Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development
B Enkhmandakh, AV Makeyev… - Proceedings of the …, 2009 - National Acad Sciences
GTF2I and GTF2IRD1 encoding the multifunctional transcription factors TFII-I and BEN are
clustered at the 7q11. 23 region hemizygously deleted in Williams-Beuren syndrome (WBS) …
clustered at the 7q11. 23 region hemizygously deleted in Williams-Beuren syndrome (WBS) …
[HTML][HTML] Gene regulation by voltage-dependent calcium channels
M Barbado, K Fablet, M Ronjat, M De Waard - Biochimica et Biophysica …, 2009 - Elsevier
Ca2+ is the most widely used second messenger in cell biology and fulfills a plethora of
essential cell functions. One of the most exciting findings of the last decades was the …
essential cell functions. One of the most exciting findings of the last decades was the …