human | Q5 |
P496 | ORCID iD | 0000-0001-9715-1734 |
P108 | employer | University of Michigan | Q230492 |
University of Texas Health Science Center at San Antonio | Q4005868 | ||
Vanderbilt University Medical Center | Q7914455 | ||
P734 | family name | Hernandez | Q27180733 |
Hernandez | Q27180733 | ||
Hernandez | Q27180733 | ||
P106 | occupation | researcher | Q1650915 |
Q36843204 | A carboxy-terminal inter-helix linker as the site of phosphatidylinositol 4,5-bisphosphate action on Kv7 (M-type) K+ channels. |
Q34543571 | A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy |
Q50026065 | A missense mutation A384P associated with human hyperekplexia reveals a desensitization site of glycine receptors |
Q37634832 | Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome. |
Q33599954 | Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits |
Q42365144 | Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population |
Q48423972 | De novo GABRG2 mutations associated with epileptic encephalopathies. |
Q36131243 | Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population |
Q30484864 | Determinants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity. |
Q93195426 | Determination of the melanocortin-4 receptor structure identifies Ca2+ as a cofactor for ligand binding |
Q28115275 | Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function |
Q47109359 | GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy |
Q30485406 | Homomeric and heteromeric assembly of KCNQ (Kv7) K+ channels assayed by total internal reflection fluorescence/fluorescence resonance energy transfer and patch clamp analysis |
Q37146444 | Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation |
Q35102221 | Oxidative modification of M-type K(+) channels as a mechanism of cytoprotective neuronal silencing |
Q87605254 | Reply |
Q39593426 | The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. |
Q92479187 | The GPCR accessory protein MRAP2 regulates both biased signaling and constitutive activity of the ghrelin receptor GHSR1a |
Q42906676 | Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents. |
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