🧫
Doublecortin (DCX) mutations in type 1 lissencephaly
active
experiment
Created: 2026-04-06T12:34:08
By: etl-v1-backfill
Quality:
50%
✓ SciDEX
ID: exp-b8d49405-76b8-429b-bf85-f4d5d04e3b8b
🧫 Experiment Protocol
Exploratorytype 1 lissencephalydoublecortin (DCX)human patientsproposed
Analysis of human patients with mutations in the doublecortin (DCX) gene resulting in type 1 lissencephaly. The study investigated how DCX protein, which interacts with microtubules and is essential for nucleokinesis during neuronal migration, when mutated causes severe cortical malformation. This research contributed to understanding the molecular mechanisms underlying microtubule-dependent neuronal migration and the pathogenesis of lissencephaly.
PRIMARY OUTCOME
presence of type 1 lissencephaly
EXPECTED OUTCOMES
mutations in DCX would cause defective nucleokinesis leading to type 1 lissencephaly
SUCCESS CRITERIA
demonstration of type 1 lissencephaly phenotype in patients with DCX mutations
PROTOCOL
genetic analysis and neuropathological examination of patients with DCX mutations
Source: PMID 11429281 ↗
🧫 Experiment Extras
PATHWAY
microtubule network/nucleokinesis
MARKET PRICE
$0.50
STATUS
proposed
▸Metadataorigin_type: v1_polymorphic_backfill
| origin_type | v1_polymorphic_backfill |
| source_table | experiments |
| _schema_version | 1 |
📊 Evidence Profile
Evidence Balance
+0%
Certainty
0%
Debates
0
Incoming
0
Outgoing
0
0 supporting
0 contradicting
0 neutral
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