Prominent publications by Erin Y Chen
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
[ PUBLICATION ]
22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly ...
|Kjent for Human Pair | digeorge syndrome | congenital heart disease | childrens hospital | chromosome deletion|
Synaptotagmin 7 is enriched at the plasma membrane through γ-secretase processing to promote vesicle docking and control synaptic plasticity in mouse hippocampal neurons
[ PUBLICATION ]
Abstract Synaptotagmin (SYT) 7 has emerged as key regulator of presynaptic function, but its localization and precise function in the synaptic vesicle cycle remain unclear. Here, we used iGluSnFR to optically and directly interrogate glutamate release, at the single bouton level, in SYT7 KO dissociated mouse hippocampal neurons. We analyzed asynchronous release, paired pulse facilitation, and synaptic vesicle replenishment, and found that SYT7 contributes to each of these processes to ...
|Kjent for Asynchronous Release | synaptotagmin 7 | synaptic vesicles | vesicle replenishment | mouse hippocampal|
Synaptotagmin 7 is targeted to the axonal plasma membrane through γ-secretase processing to promote synaptic vesicle docking in mouse hippocampal neurons
[ PUBLICATION ]
Synaptotagmin 7 (SYT7) has emerged as a key regulator of presynaptic function, but its localization and precise role in the synaptic vesicle cycle remain the subject of debate. Here, we used iGluSnFR to optically interrogate glutamate release, at the single-bouton level, in SYT7KO-dissociated mouse hippocampal neurons. We analyzed asynchronous release, paired-pulse facilitation, and synaptic vesicle replenishment and found that SYT7 contributes to each of these processes to different ...
|Kjent for Synaptic Vesicles | vesicle replenishment | cycle remain | activity dependent|
The 22q11.2 Deletion Syndrome (22q11.2DS) occurs in ~1:3,000-6,000 individuals. Features less typically associated with 22q11.2DS, such as orthopedic manifestations, may be overlooked or may not lead to appropriate diagnostic testing. Club foot has a general population prevalence of ~1:1,000 and has been occasionally described in association with 22q11.2DS. Our hypothesis is that the prevalence of club foot is higher in patients with 22q11.2DS. We performed a retrospective review in two ...
Erin Y Chen: Påvirke statistikk
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Nøkkelpersoner for Synaptic Vesicles
Erin Y Chen:Ekspertvirkning
Konsepter somErin Y Chenhar direkte innflytelse:Synaptic vesicles, Synaptotagmin 7, Asynchronous release, 22q112 deletion syndrome, Deletion syndrome, Digeorge syndrome, Synaptotagmin 7 syt7, Syndrome 22q112ds.
Erin Y Chen:Kol Impact
Konsepter relatert til arbeidet til andre forfattere somfor which Erin Y Chen har innflytelse:22q112 deletion syndrome, Idiopathic scoliosis, Synaptic vesicles, Behavior problems, Cnv genes, Transient docking, Psychosocial risks.
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