Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0270736 (
Essential tremor
)
404
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Essential tremor
(ET) is the most common adult-onset movement disorder. In the present study, we performed whole exome sequencing of a large ET-affected family (10 affected and 6 un-affected family members) and identified a
TUB
p.V431I variant (rs75594955) segregating in a manner consistent with autosomal-dominant inheritance. Subsequent targeted re-sequencing of
TUB
in 820 unrelated individuals with sporadic ET and 630 controls revealed significant enrichment of rare nonsynonymous
TUB
variants (e.g. rs75594955: p.V431I, rs1241709665: p.Ile20Phe, rs55648406: p.Arg49Gln) in the ET cohort (SKAT-O test p-value = 6.20e-08).
TUB
encodes a transcription factor predominantly expressed in neuronal cells and has been previously implicated in obesity. ChIP-seq analyses of the
TUB
transcription factor across different regions of the mouse brain revealed that
TUB
regulates the pathways responsible for neurotransmitter production as well thyroid hormone signaling. Together, these results support the association of rare variants in
TUB
with ET.
...
PMID:Candidate variants in TUB are associated with familial tremor. 3295 75
