Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice

Human Molecular Genetics

Volumn 11, Issue 5, 2002, Pages 547-558

  Kennan, Avril ^a   Aherne, Aileen ^a   Palfi, Arpad ^a,b   Humphries, Marian ^a   McKee, Alex ^a   Stitt, Alan ^c   Simpson, David A C ^c   Demtroder, Karin ^d   Orntoft, Torben ^d   Ayuso, Carmen ^e   Kenna, Paul F ^a   Farrar, G Jane ^a   Humphries, Pete ^a  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b UNIVERSITY OF SZEGED   (Hungary)

^c QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

^e Ciudad Universitaria ^*  (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; INOSINATE DEHYDROGENASE; PROLINE; RHODOPSIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 7Q; CONTROLLED STUDY; CYTOSKELETON; DNA MICROARRAY; DNA SCREENING; DNA TRANSCRIPTION; EUROPE; EXTRACELLULAR MATRIX; GENE EXPRESSION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC CONSERVATION; GENETIC TRANSCRIPTION; MOUSE; MUELLER CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA; RETINA DEGENERATION; RETINITIS PIGMENTOSA; RETINOPATHY; UNINDEXED SEQUENCE; WILD TYPE;

ANIMALIA;

EID: 0036501462     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.5.547     Document Type: Article

References (51)

1. On the molecular genetics of retinitis pigmentosa
2. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
3. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
4. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
5. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
6. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
7. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
8. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
9. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa
10. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
11. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
12. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
13. Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: Linkage mapping in a second, unrelated family
14. An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q
15. Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q
16. Retinopathy induced in mice by targeted disruption of the rhodopsin gene
17. Apoptotic photoreceptor death in the rhodopsin knockout mouse in the presence and absence of c-fos
18. Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background
19. The electroretinogram of the rhodopsin knockout mouse
20. Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx
21. Characterization of human type I and type II IMP dehydrogenases
22. Biochemical analysis of the modular enzyme inosine 5′-monophosphate dehydrogenase
23. The structure of inosine 5′-monophosphate dehydrogenase and the design of novel inhibitors
24. Two distinct cDNAs for human IMP dehydrogenase
25. Selective up-regulation of type II inosine 5′-monophosphate dehydrogenase messenger RNA expression in human leukemias
26. Consequences of IMP dehydrogenase inhibition, and its relationship to cancer and apoptosis
27. Tissue-differential expression of two distinct genes for human IMP dehydrogenase (E.C.1.1.1.205)
28. Regulation of the human inosine monophosphate dehydrogenase type I gene. Utilization of alternative promoters
29. Inosine-5′-monophosphate dehydrogenase: Regulation of expression and role in cellular proliferation and T lymphocyte activation
30. Inhibition of T lymphocyte activation in mice heterozygous for loss of the IMPDH II gene
31. GTP depletion induced by IMP dehydrogenase inhibitors blocks RNA-primed DNA synthesis
32. Molecular targets of guanine nucleotides in differentiation, proliferation and apoptosis
33. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
34. IMP dehydrogenase: Mechanism of action and inhibition
35. A20 and A20-binding proteins as cellular inhibitors of nuclear factor-κ B-dependent gene expression and apoptosis
36. The cytoplasmic Purkinje onconeural antigen cdr2 down-regulates c-Myc function: Implications for neuronal and tumor cell survival
37. Defective myosin VIIA gene responsible for Usher syndrome type 1B
38. A role for myosin VII in dynamic cell adhesion
39. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
40. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
41. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
42. Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa
43. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
44. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
45. Upregulation of CD44 expression in the retina during the rds degeneration
46. A β A4 amyloid precursor protein gene and Alzheimer's disease
47. β-2 microglobulin is an amyloidogenic protein in man
48. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
49. Single-step method of RNA isolation by acid guanidiniumthiocyanate-phenol-chloroform extraction
50. Identification of gene expression patterns in superficial and invasive human bladder cancer