IMPDH1 Antibody, Biotin conjugated

1. We have found that the rs2278294 G allele exerts statistically significant inhibition on post-kidney transplant body mass index gain PMID: 30056902
2. In our cohort of >300 familial cases of autosomal-recessive retinitis pigmentosa, PKRP004 is the only family harboring a mutation in IMPDH1. PMID: 25439607
3. Expression of IMPDH mRNA after mycophenolate administration in male volunteers. PMID: 25105143
4. A novel mutation, p.L270R in IMPDH1, was found to be retinitis pigmentosa-causing in one family. PMID: 23534816
5. p53 has a novel function in regulating purine biosynthesis, aided by miR-34a-dependent IMPDH repression. PMID: 22301190
6. IMPDH has a function in the retina, apparently independent of its enzymatic activity, mediated by retina-specific variants. PMID: 22183375
7. IMPDH1 mutation is associated with retinitis pigmentosa. PMID: 21791244
8. The mutation frequency of IMPDH1 gene of the Han population in Ganzhou city was similar as approximately 2-5% of the autosomal dominant retinitis pigmentosa cases among Americans of European origin and Europeans. PMID: 20238028
9. resequenced IMPDH1 and IMPDH2 using DNA from 288 individuals from three ethnic groups and performed functional genomic studies of the sequence variants observed; identified 73 single nucleotide polymorphisms in IMPDH1, 59 novel PMID: 20718729
10. Potential associations between the most frequent single nucleotide polymorphisms in both IMPDH genes and clinical outcome in renal transplant recipients. PMID: 20679962
11. Inosine 5'-monophosphate dehydrogenase 1 haplotypes have a role in mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients PMID: 20649757
12. The risk of subclinical acute rejection for recipients who cannot adapt in therapeutic drug monitoring of mycophenolic acid seems to be influenced by IMPDH1 rs2278293 polymorphism. PMID: 20136638
13. In this small sample of pediatric heart transplant patients receiving MMF, ABCC2, IMPDH1 and IMPDH2 SNPs were associated with MMF GI intolerance and bone marrow toxicity. PMID: 20061166
14. This mutant isoenzyme maps to human chromosome region 7q and has an amino acid substitution (arginine for proline). It is involved in the etiology of autosomal dominant retinitis pigmentosa in humans. PMID: 11875049
15. A missense mutation in this isozyme causes human autosomal retinitis pigmentosa. PMID: 11875050
16. A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa. PMID: 15465556
17. The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP (autosomal dominant retinitis pigmentosa). PMID: 16038673
18. Asp226Asn mutation is associated with a severe, early-onset form of retinal degeneration in members of this family. PMID: 16214101
19. In this family with a mutation in IMPDH1, we found a specific phenotype with rod function affected more than cone function, foveal edema, and central retinal function preserved for a long period of time. PMID: 16272056
20. Mutations in IMPDH1 account for approximately 2% of families with adRP, and de novo IMPDH1 mutations are also rare causes of isolated LCA (Leber congenital amaurosis). PMID: 16384941
21. Identification of unique retinal isoforms supports the existence of a novel IMPDH1 function in the retina, one that is probably altered by disease-causing mutations. PMID: 16936083
22. If IMPDH genetic variability contributes to azathioprine resistance in inflammatory bowel disease it does so infrequently. PMID: 17001353
23. Mycophenolate mofetil up-regulates IMPDH-I and IMPDH-II mRNA in peripheral blood mononuclear cells. May predict acute rejection. PMID: 17713475
24. C-terminal extension unique to the retinal isoforms blocks the nucleic acid binding site of IMPDH1, and thus uniquely regulates protein function within photoreceptors. PMID: 18295591
25. RHO, PRPF31, RP1, and IMPDH1 were screened and causative mutations were identifiedin 4% of isolated and 2% of autosomal dominant forms of retinitis pigmentosa patients from India. PMID: 18552984
26. IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA PMID: 18974094

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HGNC: 6052

OMIM: 146690

KEGG: hsa:3614

STRING: 9606.ENSP00000345096

UniGene: Hs.654401