Project description:Leucine-rich-repeats and immunoglobulin-like-domains (LRIG2) variants can occur in urofacial syndrome (UFS), an inherited disease characterised by functional bladder outlet obstruction. We aimed to define the pathobiology underlying UFS which we hypothesised would illuminate how the bladder becomes innervated. Lrig2 was detected in pelvic ganglia supplying autonomic neurons to the bladder, and in neurites and glia emanating from explanted ganglia. One week old Lrig2 mutant mice displayed abnormally patterned bladder nerves, as did mice with mutations of Hpse2, also mutated in some UFS patients. From two weeks postnatally, Lrig2 mutants had urination defects resembling UFS. Molecules implicated in neural biology, including Nos1 which relaxes the bladder outlet, were dysregulated in newborn Lrig2 mutant bladders. These molecular aberrations preceded manifest urination defects. We discovered novel homozygous missense LRIG2 variants in non-syndromic bladder outlet obstruction. Molecules mutated in UFS are required for bladder innervation and LRIG2 variants can occur in non-syndromic bladder disease as well as in UFS.
Project description:ARID1A, a subunit of SWI/SNF chromatin remodeling complex. SWI/SNF complex can regulate expression of genes involved in vital biological processes such as cell cycle, DNA damage repair and development. ARID1A is known to have high mutation rate in human cancers including bladder cancer, leading to its loss of function. Publicly available whole exome sequencing data for muscle invasive and non-muscle invasive bladder cancers, show fraction of tumors with truncated ARID1A. Thus identifying therapeutic strategies for ARID1A mutant cancers is of high importance. EZH2, a histone methyltransferase is known to over-express and play pivotal role in aggressive bladder cancer. Our preliminary studies show that treatment of EZH2 inhibitor (GSK126) on ARID1A mutant bladder cancer cells significantly reduced cancer cell viability, invasion and colony formation relative to wild type ARID1A containing cells. Here, we performed microarray experiments to assess the effect of EZH2 inhibitor on global transcriptome of both ARID1A mutant and wild type bladder cancer cell line.
2023-05-01 | GSE150249 | GEO
Project description:Data for MutMap and WGBS of mutant her1
| PRJNA1141160 | ENA
Project description:mutmap sequence of Wildtype and dark green mutant dg
Project description:Activating mutations of FGFR3 are found in a high proportion of bladder tumours. The molecular consequences of FGFR3 mutation in urothelial cells and the mechanisms by which mutant FGFR3 may drive bladder tumourigenesis are largely unknown. We used expression arrays to identify downstream targets of mutant FGFR3 signalling in normal urothelial cells.
2014-09-12 | GSE61352 | GEO
Project description:UFO Mutmap
| PRJNA686504 | ENA
Project description:M5007 mutmap
| PRJNA1176266 | ENA
Project description:MutMap+: Genetic mapping and mutant identification without crossing in rice
| PRJDB2308 | ENA
Project description:Mutmap analysis for an early-flowering mutant (ef2) of rice