Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.24.59 (MIP)
 4,906 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary cataracts are breed-related eye diseases and are common in many dog breeds. In this study, 17 genes (BFSP2, EYA1, FOXE3, FTL, GCNT2, GJA3, GJA8, HSF4, MAF, MIP, PAX6, PITX3, SIX5, SORD, SOX1, SPARC, TRNT1) were evaluated as candidates for primary non-congenital cataracts (CAT) in the Dachshund using microsatellites adjacent to the candidate genes. Linkage and association with CAT was tested in 15 affected and six unaffected wire-haired Dachshunds. Non-parametric linkage analysis and association tests did not reveal significant linkage or association for the candidate gene flanking microsatellites tested. Thus, it is unlikely that the 17 investigated candidate genes harbour a causative mutation for CAT in these Dachshunds.
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PMID:Scanning 17 candidate genes for association with primary cataracts in the wire-haired Dachshund. 1870 62

Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported pediatric cataract genes in 33 affected individuals with a family history (cases with previously known or published mutations were excluded) using the Ion Torrent Personal Genome Machine. Variants were prioritized for validation if they were predicted to alter the protein sequence and were absent or rare with minor allele frequency <1% in public databases. Confirmed mutations were assessed for segregation with the phenotype in all available family members. All identified novel or previously reported cataract-causing mutations were screened in 326 unrelated Australian controls. We detected 11 novel mutations in GJA3, GJA8, CRYAA, CRYBB2, CRYGS, CRYGA, GCNT2, CRYGA, and MIP; and three previously reported cataract-causing mutations in GJA8, CRYAA, and CRYBB2 The most commonly mutated genes were those coding for gap junctions and crystallin proteins. Including previous reports of pediatric cataract-associated mutations in our Australian cohort, known genes account for >60% of familial pediatric cataract in Australia, indicating that still more causative genes remain to be identified.
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PMID:High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia. 2883 18

Patients with mycosis fungoides (MF) developing tumors or extracutaneous lesions usually have a poor prognosis with no cure has so far been available. To identify potential novel biomarkers for MF at the tumor stage, a genomic mapping of 41 cutaneous lymphoma biopsies was used to explore for significant genes.The gene expression profiling datasets of MF were obtained from Gene Expression Omnibus database (GEO). Gene modules were simulated using Weighted Gene Co-expression Network Analysis (WGCNA) and the top soft-connected genes (hub genes) were filtrated with a threshold (0.5). Subsequently, module eigengenes were calculated and significant biological pathways were enriched based on the KEGG database.Four genetic modules were simulated with 3263 genes collected from the whole genomic profile based on cutoff values. Significant diseases genetic terminologies associated with tumor stage MF were found in black module. Subsequently, 13 hub genes including CFLAR, GCNT2, IFNG, IL17A, IL22, MIP, PLCG1, PTH, PTPN6, REG1A, SNAP25, SUPT7L, and TP63 were shown to be related to cutaneous T-cell lymphoma (CTCL) and adult T-cell lymphoma/leukemia (ATLL).In summary, in addition to the reported genes (IL17F, PLCG1, IFNG, and PTH) in CTCL/ATLL, the other high instable genes may serve as novel biomarkers for the regulation of the biological processes and molecular mechanisms of CTLT (MF/SS).
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PMID:Oncogenomic analysis identifies novel biomarkers for tumor stage mycosis fungoides. 2979 91