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Genes (356)
Species: human : 340 mouse : 16 | |
Mouse | IFT88 | 8100 | intraflagellar transport 88 homolog (Chlamydomonas) | Here we show direct involvement of the Tg737 gene in collecting duct cyst formation by expressing the wild-type Tg737 cDNA as a transgene in TgN737Rpw mutants. | Mouse | TGFB2 | 7042 | transforming growth factor, beta 2 | The fact that Tgfbeta2+/- heterozygous mutant mice exhibit hyperplasia of Cowper;s gland epithelium and Cowper;s gland cysts suggests a disturbance of epithelial-stromal interaction most likely due to reduced TGF-beta2 level, accompanied by a significant decrease in apoptosis. | Mouse | SRI | 6717 | sorcin | In addition, the MUP series was localized to the cyst fluid of PKD mice, and a cellular mislocalization of galectin-1, sorcin, and vimentin in PKD tubular epithelial cells was shown. | Mouse | SLC12A2 | 6558 | solute carrier family 12 (sodium/potassium/chloride transporter), member 2 | NKCC1 expression was detected on the BLM of advanced cysts only. | Mouse | S100A9 | 6280 | S100 calcium binding protein A9 | Cyst fluid antigen (CFAg) specific antibody titres on month eight after challenge correlated with number and size of cysts. | Mouse | PKHD1 | 5314 | polycystic kidney and hepatic disease 1 (autosomal recessive) | Cyst formation correlates with inhibition of Pkhd1 expression, which argues that mutations of HNF-1beta produce kidney cysts by down-regulating the ARPKD gene, Pkhd1. | Mouse | PKD1 | 5310 | polycystic kidney disease 1 (autosomal dominant) | Disruption of the mouse Pkd1 gene leads to death in the perinatal period with massive cystic expansion in homozygotes and age-related cyst development in heterozygotes. | Mouse | PAX2 | 5076 | paired box 2 | In contrast, homozygous Pkd1(del34/del34) fetal mice carrying mutant Pax2 exhibited ameliorated cyst growth, although reduced cystogenesis was not associated with increased apoptosis. Pax2 expression was attenuated in nascent collecting ducts and absent from remnant cysts of Pkd1(del34/del34)/Pax2(1Neu/+) mutant mice. The inhibition of cyst growth was not due to reduced proliferation of the cystic epithelium, rather to increased cell death in the Pax2 heterozygotes. | Mouse | P2RX7 | 5027 | purinergic receptor P2X, ligand-gated ion channel, 7 | P2X7 receptor expression in the adult collecting ducts of murine kidney, as well as the collecting duct cysts in autosomal recessive polycystic kidney disease, has been described and agonists of the receptor can modulate the development of renal cysts in an in vitro model of cyst formation derived from the cpk/cpk mouse. | Mouse | NOTCH1 | 4851 | notch 1 | Embryonic as well as postnatal inactivation of Notch1 shortly after birth or in adult mice results in almost complete hair loss followed by cyst formation. | Mouse | LCN2 | 3934 | lipocalin 2 | The suppression of Ngal expression using short hairpin RNA results in increased cyst formation by tubular cells. | Mouse | IVL | 3713 | involucrin | Although beta 1-null ES cells failed to undergo differentiation into keratinocytes in vitro, they did form keratinocyte cysts expressing alpha 6 beta 4, keratins 1 and 14, and involucrin when allowed to form teratomas by subcutaneous injection in mice; furthermore, beta 1-null keratinocytes were found in the epidermis of a wild-type/beta 1-null chimeric mouse. | Mouse | RBPJ | 3516 | recombination signal binding protein for immunoglobulin kappa J region | Cyst formation is probably due to a combination of the aberrant fate determination of RBP-J-deficient stem cells to epidermal progenitors and their accelerated differentiation into epidermis. | Mouse | FGF7 | 2252 | fibroblast growth factor 7 | In this study, systemic administration of KGF into naive and oophorectomized mice causes mammary gland proliferation, as evidenced histologically by the appearance of cysts lined by a single layer of epithelium and by hyperplastic epithelium. | Mouse | F2RL2 | 2151 | coagulation factor II (thrombin) receptor-like 2 | PAR3 is essential for cyst-mediated epicardial development by establishing apical cortical domains. PAR3-deficient epicardial progenitor (EPP) cells do not form cell cysts and show defects in the establishment of apical cortical domains, but not in basolateral domains. | Mouse | CDKN2C | 1031 | cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) | Loss of both P15(INK4b) and P18(INK4c) does not result in significantly distinct phenotypic manifestations except for the appearance of cysts in additional tissues. Mice lacking P18(INK4c) have deregulated epithelial cell growth leading to the formation of cysts, mostly in the cortical region of the kidneys and the mammary epithelium. | Human | PPBPL1 | 728045 | | When cyst fluids were classified by their electrolyte composition, group II cysts had similar levels of platelet factor 4 but significantly higher levels of beta-thromboglobulin and thrombospondin than group I. | Human | NEK8 | 284086 | NIMA-related kinase 8 | To confirm that a defect in the Nek8 gene can cause cystic disease, we performed a cross-species analysis: injection of zebrafish embryos with a morpholino anti-sense oligonucleotide corresponding to the ortholog of Nek8 resulted in the formation of pronephric cysts. | Human | ARX | 170302 | aristaless related homeobox | The lesions appeared to be congenital and represented benign developmental cysts, possibly caused by the ARX mutation. | Human | SERPINA12 | 145264 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 | INFERRED, Score=800, UMLKSK CUI: C0010709 | Human | HIST3H2BB | 128312 | histone cluster 3, H2bb | RNA species recognized by E. invadens histone H2B clones are found at increased levels during cyst formation. Increased levels of polyadenylated histone H2B mRNA accumulate during Entamoeba invadens cyst formation. | Human | TRICY1 | 94014 | trichilemmal cyst 1 | Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1. In order to identify candidate genes for this trait we have ascertained a Danish family with 38 persons (11 affected), and carried out a genome wide scan with 580 DNA micro-satellite markers to identify the locus for a gene, which we termed TRICY1 (for trichilemmal cysts). | Human | TUBA1C | 84790 | tubulin, alpha 1c | Click here to display 8 evidence detail records. | Human | FBN3 | 84467 | fibrillin 3 | INFERRED, Score=800, UMLKSK CUI: C0010709 | Human | INHBE | 83729 | inhibin, beta E | INFERRED, Score=800, UMLKSK CUI: C0010709 |
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