A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired comm...
Κύριοι συγγραφείς: | Ceroni, F, Sagar, A, Simpson, N, Gawthrope, A, Newbury, D, Pinto, D, Francis, S, Tessman, D, Cook, E, Monaco, A, Maestrini, E, Pagnamenta, A, Jacob, S |
---|---|
Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
John Wiley and Sons Inc.
2014
|
Παρόμοια τεκμήρια
-
A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma
ανά: Ceroni, F, κ.ά.
Έκδοση: (2014) -
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.
ανά: Newbury, D, κ.ά.
Έκδοση: (2009) -
Molecular genetic investigations of autism.
ανά: Maestrini, E, κ.ά.
Έκδοση: (1998) -
Identifying autism susceptibility genes.
ανά: Maestrini, E, κ.ά.
Έκδοση: (2000) -
Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
ανά: Maestrini, E, κ.ά.
Έκδοση: (1999)