Transcriptomic approach to Lesch-Nyhan disease. (Q38475886)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940671%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Transcriptomic approach to Lesch-Nyhan disease (English)

1 reference

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20 March 2020

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6

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20 March 2020

author name string

Luce Dauphinot

1

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20 March 2020

Lionel Mockel

2

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20 March 2020

Julie Cahu

3

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20 March 2020

H A Jinnah

4

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20 March 2020

Morgan Ledroit

5

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20 March 2020

Irène Ceballos-Picot

7

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20 March 2020

publication date

1 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940671%20AND%20SRC:MED&resulttype=core&format=json

Nucleosides, Nucleotides & Nucleic Acids

20 March 2020

published in

1 reference

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20 March 2020

volume

33

1 reference

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20 March 2020

issue

4-6

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20 March 2020

page(s)

208-217

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Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

20 March 2020

cites work

1 reference

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6 September 2017

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HPRT-deficiency dysregulates cAMP-PKA signaling and phosphodiesterase 10A expression: mechanistic insight and potential target for Lesch-Nyhan Disease?

6 September 2017

1 reference

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Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.

6 September 2017

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Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase

6 September 2017

1 reference

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Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene

6 September 2017

1 reference

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HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?

6 September 2017

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Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants

6 September 2017

1 reference

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Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.

6 September 2017

1 reference

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Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis

6 September 2017

1 reference

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Trophic functions of nucleotides in the central nervous system

6 September 2017

1 reference

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GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

6 September 2017

1 reference

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The role of ATP signaling in the migration of intermediate neuronal progenitors to the neocortical subventricular zone

6 September 2017

1 reference

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Purinergic signalling and disorders of the central nervous system

6 September 2017

1 reference

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Activation of FOXO1 by Cdk1 in cycling cells and postmitotic neurons

6 September 2017

1 reference

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Consequences of impaired purine recycling in dopaminergic neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206182

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

6 September 2017

1 reference

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Induction of pluripotent stem cells from adult human fibroblasts by defined factors

6 September 2017

1 reference

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Multifocal atrophy of cerebellar internal granular neurons in lesch-nyhan disease: case reports and review

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206182

Basal ganglia dopamine loss due to defect in purine recycling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206182

Delineation of the motor disorder of Lesch-Nyhan disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206182

Extracellular nucleotide signaling in adult neural stem cells: synergism with growth factor-mediated cellular proliferation.

6 September 2017

1 reference

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Borealin: a novel chromosomal passenger required for stability of the bipolar mitotic spindle

6 September 2017

1 reference

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A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

6 September 2017

1 reference

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Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo

6 September 2017

1 reference

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Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease

6 September 2017

1 reference

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Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis

6 September 2017

1 reference

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The Cdk1 complex plays a prime role in regulating N-myc phosphorylation and turnover in neural precursors.

14 September 2017

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Presynaptic dopaminergic deficits in Lesch-Nyhan disease

14 September 2017

1 reference

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Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects

23 June 2018

1 reference

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Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)

31 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24940671

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1080/15257770.2014.880477

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940671%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

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20 March 2020

PubMed publication ID

24940671

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24940671%20AND%20SRC:MED&resulttype=core&format=json