Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
about
X-linked disorders with cerebellar dysgenesisThe schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapseHydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ geneAdaptor protein complexes and intracellular transport.Conservation and diversification of dileucine signal recognition by adaptor protein (AP) complex variantsAn AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.Infantile hydrocephalus: a review of epidemiology, classification and causes.Presynaptic membrane retrieval and endosome biology: defining molecularly heterogeneous synaptic vesiclesMutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).Expression and localization of silkworm adaptor protein complex-1 subunits, which were down-regulated post baculovirus infection.Genomic regions controlling shape variation in the first upper molar of the house mouse.Conditional ablation of the RFX4 isoform 1 transcription factor: Allele dosage effects on brain phenotype.X chromosome and suicide.AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Malformations among the X-linked intellectual disability syndromes.Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
P2860
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P2860
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@en
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@en-gb
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@nl
type
label
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@en
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@en-gb
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@nl
prefLabel
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@en
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@en-gb
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@nl
P2093
P2860
P356
P1476
Mutations in the AP1S2 gene en ...... lcifications in basal ganglia.
@en
P2093
C Franconnet
J L Pedespan
L Castelnau
M E Porteous
M T Iba-Zizen
P2860
P304
P356
10.1136/JMG.2007.051334
P407
P577
2007-07-06T00:00:00Z