Clinical exome sequencing considering 4800 human genes including 18 genes related to Parkinson's disease (PARK1: SNCA; PARK2: PRKN; PARK3: SPR; PARK4: SNCA Dup/Del; PARK5: UCHL1; PARK6: PINK1; PARK7: DJ1; PARK8: LRRK2; PARK9: ATP13A2; PARK10: ELAVL4; PARK11: GIGYF2; PARK12: TAF1
; PARK13: HTRA2; PARK14: PLA2G6; PARK15: FBXO7; PARK16: ADORAI; PARK17: VPS35; PARK18: EIF4GI) (TruSight One Sequencing Panels, Illumina) were performed on MiSeq platform (Illumina).
The preheating device was designed using Solid Works; the design was constructed with keeping the specifications of the Kirloskar TAF1
Disruptions in NF-protocadherin and TAF1
can lead to a shortened AP axis that was not evident until stages 22-25, some time after neural tube closure .
Other genes that have emerged as significantly mutated genes in whole-exome sequencing studies of serous endometrial carcinomas are SPOP, a putative tumor suppressor gene; CDKN1A [cyclin-dependent kinase inhibitor 1A (p21, Cip1)], a bona fide cancer gene; TAF1
; HCFC1R1 [host cell factor C1 regulator 1 (XPO1 dependent)]; CTDSPL [CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like]; YIPF3 (Yip1 domain family, member 3); and FAM132A (family with sequence similarity 132, member A) (17, 18).
Ando et al., "Reduced Neuron-Specific Expression of the TAF1
Gene Is Associated with X-Linked Dystonia-Parkinsonism," American Journal of Human Genetics 80 (2007): 293-406.