Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
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Behavioral and Genetic Evidence for GIRK Channels in the CNS: Role in Physiology, Pathophysiology, and Drug AddictionGNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognitionCoordinating heart morphogenesis: A novel role for hyperpolarization-activated cyclic nucleotide-gated (HCN) channels during cardiogenesis in Xenopus laevisBioelectric memory: modeling resting potential bistability in amphibian embryos and mammalian cellsMutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile EncephalopathyGenome-wide analysis reveals conserved transcriptional responses downstream of resting potential change in Xenopus embryos, axolotl regeneration, and human mesenchymal cell differentiation.Physiological controls of large-scale patterning in planarian regeneration: a molecular and computational perspective on growth and form.Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophyThe Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.Genetics of Lipodystrophy.Dual activation of neuronal G protein-gated inwardly rectifying potassium (GIRK) channels by cholesterol and alcohol.Long-Term, Stochastic Editing of Regenerative Anatomy via Targeting Endogenous Bioelectric Gradients.Evidence that increased Kcnj6 gene dose is necessary for deficits in behavior and dentate gyrus synaptic plasticity in the Ts65Dn mouse model of Down syndrome.Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.Bioelectric gene and reaction networks: computational modelling of genetic, biochemical and bioelectrical dynamics in pattern regulation.Multiscale memory and bioelectric error correction in the cytoplasm-cytoskeleton-membrane system.HCN2 Rescues brain defects by enforcing endogenous voltage pre-patterns.Kir2.1 is important for efficient BMP signaling in mammalian face development.
P2860
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P2860
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@ast
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@en
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@nl
type
label
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@ast
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@en
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@nl
prefLabel
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@ast
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@en
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@nl
P2093
P2860
P50
P1476
Keppen-Lubinsky syndrome is ca ...... g K+ channel encoded by KCNJ6.
@en
P2093
Andrea Masotti
Elisa Pisaneschi
Laura Davis-Keppen
Lior Cohen
Mingyu Tian
Paola Bencivenga
P2860
P304
P356
10.1016/J.AJHG.2014.12.011
P407
P577
2015-01-22T00:00:00Z