Next-generation sequencing in X-linked intellectual disability.
Dresden, Germany. In Eur J Hum Genet, Nov 2015
We found 18 pathogenic variants in 13 XLID genes (AP1S2, ATRX, CUL4B, DLG3, IQSEC2, KDM5C, MED12, OPHN1, SLC9A6, SMC1A, UBE2A, UPF3B and ZDHHC9) among the 150 male patients.
RhoGAPs and Rho GTPases in platelets.
Düsseldorf, Germany. In Hamostaseologie, Mar 2015
The recently identified RhoGAPs Oligophrenin1 (OPHN1) and Nadrin regulate the activity of RhoA, Rac1 and Cdc42 and subsequent platelet cytoskeletal reorganization, platelet activation and thrombus formation.
X linked mental retardation: a clinical guide.
Cambridge, United Kingdom. In J Med Genet, 2006
The phenotypes of genes causing syndromic and non-syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis.
[Non-specific X-linked mental retardation].
Valencia, Spain. In Rev Neurol, 2006
Moreover, genes such as OPHN1, PAK3, ARHGEF6, FGD1 or TM4SF2 code for proteins that interact with rho GTPases, and play a role in the transmission of signals that regulate the development of axons and dendrites.
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Hamburg, Germany. In Nat Genet, 2000
So far, seven X-chromosomal genes mutated in nonspecific mental retardation (MRX) have been identified: FMR2, GDI1, RPS6KA3, IL1RAPL, TM4SF2, OPHN1 and PAK3 (refs 2-9).