Sentences with phrase «hypoplasia gene»

Not exact matches

Following a Forward Genetics approach, Fleming researchers identified a novel neurological mouse model caused by a functional mutation in the Slc25a46 gene, a new pathogenic target in a wide spectrum of human neurological diseases, including optic atrophy, Charcot - Marie - Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

Loss of function mutations in human Oligophrenin1 (OPHN1) gene are responsible for syndromic intellectual disability (ID) associated with cerebellar hypoplasia and cerebral ventricles enlargement.

The dorsal pancreatic bud was enriched for components of Notch, Wnt, BMP, and FGF signaling, almost all genes known to cause pancreatic agenesis or hypoplasia, and over 30 unexplored transcription factors.

Ultimately he discovered that the recessive nature of the disease is due to a single gene of major effect that causes choroidal hypoplasia, the primary CEA defect.