Page last updated: 2024-09-27
Cobblestone Complex
The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
Synonyms(4)
| Synonym |
|---|
| Cobblestone Lissencephaly |
| Lissencephaly Type 2 |
| Cobblestone Complex |
| Cobblestone Dysplasia |
Research
Studies (2)
| Timeframe | Studies, This Condition (%) | All Conditions % |
|---|
| pre-1990 | 0 (0.00) | 23.3326 |
| 1990's | 0 (0.00) | 12.5806 |
| 2000's | 1 (50.00) | 18.1394 |
| 2010's | 1 (50.00) | 28.8240 |
| 2020's | 0 (0.00) | 9.53 |
Protein Targets (46)
| Protein | Potency Measurements | Inhibition Measurements | Activation Measurements | Drugs |
|---|
| interleukin 8 | 1 | 0 | 0 | 1 |
| pregnane X receptor | 1 | 0 | 0 | 1 |
| RAR-related orphan receptor gamma | 1 | 0 | 0 | 1 |
| ATAD5 protein, partial | 1 | 0 | 0 | 1 |
| TDP1 protein | 1 | 0 | 0 | 1 |
| Microtubule-associated protein tau | 1 | 0 | 0 | 1 |
| AR protein | 1 | 0 | 0 | 1 |
| aldehyde dehydrogenase 1 family, member A1 | 1 | 0 | 0 | 1 |
| nuclear receptor subfamily 1, group I, member 3 | 1 | 0 | 0 | 1 |
| progesterone receptor | 1 | 0 | 0 | 1 |
| glucocorticoid receptor [Homo sapiens] | 1 | 0 | 0 | 1 |
| retinoic acid nuclear receptor alpha variant 1 | 1 | 0 | 0 | 1 |
| retinoid X nuclear receptor alpha | 1 | 0 | 0 | 1 |
| estrogen-related nuclear receptor alpha | 1 | 0 | 0 | 1 |
| pregnane X nuclear receptor | 1 | 0 | 0 | 1 |
| estrogen nuclear receptor alpha | 1 | 0 | 0 | 1 |
| bromodomain adjacent to zinc finger domain 2B | 1 | 0 | 0 | 1 |
| arylsulfatase A | 1 | 0 | 0 | 1 |
| IDH1 | 1 | 0 | 0 | 1 |
| euchromatic histone-lysine N-methyltransferase 2 | 1 | 0 | 0 | 1 |
| nuclear receptor subfamily 1, group I, member 2 | 1 | 0 | 0 | 1 |
| cellular tumor antigen p53 isoform a | 1 | 0 | 0 | 1 |
| Nuclear hormone receptor family member daf-12 | 0 | 0 | 1 | 1 |
| chromobox protein homolog 1 | 1 | 0 | 0 | 1 |
| nuclear factor erythroid 2-related factor 2 isoform 2 | 1 | 0 | 0 | 1 |
| thyroid hormone receptor beta isoform 2 | 1 | 0 | 0 | 1 |
| serine/threonine-protein kinase mTOR isoform 1 | 1 | 0 | 0 | 1 |
| oxysterols receptor LXR-beta isoform 1 | 0 | 0 | 1 | 1 |
| urokinase-type plasminogen activator precursor | 1 | 0 | 0 | 1 |
| plasminogen precursor | 1 | 0 | 0 | 1 |
| urokinase plasminogen activator surface receptor precursor | 1 | 0 | 0 | 1 |
| geminin | 1 | 0 | 0 | 1 |
| peripheral myelin protein 22 | 1 | 0 | 0 | 1 |
| survival motor neuron protein isoform d | 1 | 0 | 0 | 1 |
| muscarinic acetylcholine receptor M1 | 1 | 0 | 0 | 1 |
| Voltage-dependent calcium channel gamma-2 subunit | 1 | 0 | 0 | 1 |
| Thymidine kinase, cytosolic | 0 | 1 | 0 | 1 |
| Glutamate receptor 2 | 1 | 0 | 0 | 1 |
| Thymidine phosphorylase | 0 | 0 | 0 | 1 |
| Thymidylate kinase | 0 | 1 | 0 | 1 |
| Nuclear receptor ROR-gamma | 1 | 0 | 0 | 1 |
| Spike glycoprotein | 1 | 0 | 0 | 1 |
| Thymidine kinase | 0 | 0 | 0 | 1 |
| Thymidylate kinase | 0 | 1 | 0 | 1 |
| ATPase family AAA domain-containing protein 5 | 1 | 0 | 0 | 1 |
| Ataxin-2 | 1 | 0 | 0 | 1 |
| [prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023] |