🧫
Reelin pathway defects in human type 2 lissencephaly
active
experiment
Created: 2026-04-06T12:34:08
By: etl-v1-backfill
Quality:
50%
✓ SciDEX
ID: exp-7aa99b6c-610c-44da-99e1-2778a37eeba4
🧫 Experiment Protocol
Exploratorytype 2 lissencephalyReelin, lipoprotein receptors, Dab1, integrin alpha 3 beta 1human patientsproposed
Investigation of human patients with defects in the Reelin signaling pathway, including mutations affecting Reelin itself, lipoprotein receptor family members, the intracellular adaptor Dab1, and possibly integrin alpha 3 beta 1. The study examined how defective Reelin signaling leads to poor cortical lamination and results in a distinct type 2 lissencephaly phenotype, different from type 1 lissencephaly. This research provided insights into the mechanisms of architectonic pattern formation during neuronal migration and the role of recognition-adhesion processes among target neurons.
PRIMARY OUTCOME
presence of type 2 lissencephaly and poor cortical lamination
EXPECTED OUTCOMES
defective Reelin signaling would cause poor lamination and type 2 lissencephaly
SUCCESS CRITERIA
demonstration of type 2 lissencephaly phenotype distinct from type 1
PROTOCOL
genetic analysis and neuropathological examination of patients with Reelin pathway defects
Source: PMID 11429281 ↗
🧫 Experiment Extras
PATHWAY
Reelin signaling pathway
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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