Search Results - "Kang, Jingqiong"

Current knowledge of SLC6A1-related neurodevelopmental disorders by Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis

“…Abstract Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 gene as a monogenic cause of neurodevelopmental…”
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GABAA receptor epilepsy mutations by MACDONALD, Robert L, GALLAGHER, Martin J, FENG, Hua-Jun, JINGQIONG KANG

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mGluRI targets microglial activation and selectively prevents neuronal cell engulfment through Akt and caspase dependent pathways by Chong, Zhao Zhong, Kang, Jingqiong, Li, Faqi, Maiese, Kenneth

“…Metabotropic glutamate receptors (mGluRs) are expressed throughout the mammalian central nervous system and integrate a host of signal transduction pathways…”
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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism by Delahanty, R J, Kang, J Q, Brune, C W, Kistner, E O, Courchesne, E, Cox, N J, Cook, E H, Macdonald, R L, Sutcliffe, J S

“…Maternal 15q11-q13 duplication is the most common copy number variant in autism, accounting for ∼1–3% of cases. The 15q11-q13 region is subject to epigenetic…”
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GABA A receptor epilepsy mutations by Macdonald, Robert L., Gallagher, Martin J., Feng, Hua-Jun, Kang, Jingqiong

“…Idiopathic generalized epilepsy (IGE) syndromes are diseases that are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in…”
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The GABAA Receptor γ2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of α1β2γ2S Receptors in the Endoplasmic Reticulum by Kang, Jingqiong, Macdonald, Robert L.

“…The GABA A receptor γ2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures. Previously, we…”
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The GABA A Receptor γ2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of α1β2γ2S Receptors in the Endoplasmic Reticulum by Kang, Jingqiong, Macdonald, Robert L.

“…The GABA A receptor γ2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures. Previously, we…”
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The GABA sub(A) Receptor gamma2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of alpha1beta2gamma2S Receptors in the Endoplasmic Reticulum by Kang, Jingqiong, Macdonald, Robert L

“…The GABA sub(A) receptor gamma2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures…”
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Exploring Human Diseases and Biological Mechanisms by Protein Structure Prediction and Modeling by Wang, Juexin, Luttrell, 4th, Joseph, Zhang, Ning, Khan, Saad, Shi, NianQing, Wang, Michael X, Kang, Jing-Qiong, Wang, Zheng, Xu, Dong

“…Protein structure prediction and modeling provide a tool for understanding protein functions by computationally constructing protein structures from amino acid…”
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The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum by Kang, Jing-Qiong, Kang, Jingqiong, Macdonald, Robert L

“…The GABA(A) receptor gamma2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures…”
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The GABAA Receptor {gamma}2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of {alpha}1{beta}2{gamma}2S Receptors in the Endoplasmic Reticulum by Kang, Jingqiong, Macdonald, Robert L

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