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0
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Structural determinants for GPCR-mediated inhibition of TASK K2P channels by diacylglycerol and its dysfunction in disease.
(link.springer.com)
|
Jouen-Tachoire TRH
…
Tucker SJ
The EMBO Journal
2026-04-01
|
#signaling
#ion channel
#gpcr
#neurodevelopmental
#channelopathy
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0
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Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.
(nature.com)
|
Greene D
…
Turro E
Nature Genetics
2026-04-01
|
#transcriptomics
#sequencing
#mutation
#neurodevelopmental
#genetic
|
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0
|
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
(nature.com)
|
Rius R
…
Whiffin N
Nature Genetics
2026-04-01
|
#rna
#neurodevelopmental
#spliceosome
#white matter
|
|
0
|
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
(nature.com)
|
Leitao E
…
Nava C
Nature Genetics
2026-04-01
|
#transcriptomics
#splicing
#epilepsy
#neurodevelopmental
#ncrna
|
|
0
|
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Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
(nature.com)
|
Jackson A
…
Banka S
Nature Genetics
2026-04-01
|
#genetics
#biomarker
#epilepsy
#neurodevelopmental
#encephalopathy
|