Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa (Q24655474)

21 June 2017

title

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa (English)

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21 June 2017

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5

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Stephen P. Daiger

9

object named as

Stephen P Daiger

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21 June 2017

Sara J Bowne

1

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21 June 2017

Lori S Sullivan

2

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21 June 2017

Susan H Blanton

3

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21 June 2017

Constance L Cepko

4

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21 June 2017

David G Birch

6

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21 June 2017

Dianna Hughbanks-Wheaton

7

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21 June 2017

John R Heckenlively

8

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21 June 2017

Seth Blackshaw

5

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21 June 2017

language of work or name

English

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publication date

1 March 2002

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21 June 2017

published in

Human Molecular Genetics

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21 June 2017

volume

11

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21 June 2017

issue

5

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21 June 2017

page(s)

559-568

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Characteristics and crystal structure of bacterial inosine-5'-monophosphate dehydrogenase

21 June 2017

cites work

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Crystal structure of human type II inosine monophosphate dehydrogenase: implications for ligand binding and drug design

7 April 2017

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Crystal structure of Tritrichomonas foetus inosine-5'-monophosphate dehydrogenase and the enzyme-product complex

7 April 2017

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Structure and mechanism of inosine monophosphate dehydrogenase in complex with the immunosuppressant mycophenolic acid

7 April 2017

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Two distinct cDNAs for human IMP dehydrogenase

7 April 2017

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Recombinant human inosine monophosphate dehydrogenase type I and type II proteins. Purification and characterization of inhibitor binding

7 April 2017

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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

7 April 2017

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Localization and characterization of the human ADP-ribosylation factor 5 (ARF5) gene

7 April 2017

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Characterization of human type I and type II IMP dehydrogenases

7 April 2017

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Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes

7 April 2017

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28 September 2017

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Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx.

28 September 2017

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Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q

28 September 2017

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The structure of a domain common to archaebacteria and the homocystinuria disease protein

28 September 2017

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Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.

28 September 2017

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Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

28 September 2017

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Retinitis pigmentosa. The Friedenwald Lecture

28 September 2017

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The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

28 September 2017

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Expression of human IMP dehydrogenase types I and II in Escherichia coli and distribution in human normal lymphocytes and leukemic cell lines

28 September 2017

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Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences

30 May 2018

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Regulation of the human inosine monophosphate dehydrogenase type I gene. Utilization of alternative promoters

28 November 2018

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Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

28 November 2018

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12 December 2020

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

1 reference

12 December 2020

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q

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12 December 2020

Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig

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12 December 2020

The roles of conserved carboxylate residues in IMP dehydrogenase and identification of a transition state analog

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12 December 2020

Identifiers

DOI

10.1093/HMG/11.5.559

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OpenCitations bibliographic resource ID

21 June 2017

2740023

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2740023

1 reference