(Q33860047)

29 July 2017

title

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia (English)

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29 July 2017

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Xandra O. Breakefield

9

object named as

X O Breakefield

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29 July 2017

10

L J Ozelius

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29 July 2017

C Klein

1

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29 July 2017

M F Brin

2

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29 July 2017

P Kramer

3

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29 July 2017

M Sena-Esteves

4

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29 July 2017

D de Leon

5

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29 July 2017

D Doheny

6

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29 July 2017

S Bressman

7

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29 July 2017

S Fahn

8

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29 July 2017

language of work or name

English

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publication date

1 April 1999

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Proceedings of the National Academy of Sciences of the United States of America

29 July 2017

published in

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29 July 2017

volume

96

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29 July 2017

issue

9

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29 July 2017

page(s)

5173-5176

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Clinical and molecular genetics of primary dystonias

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

The ubiquitin pathway in Parkinson's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Expression of the early-onset torsion dystonia gene (DYT1) in human brain.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

The solution structure of the Leu22-->Val mutant AREA DNA binding domain complexed with a TGATAG core element defines a role for hydrophobic packing in the determination of specificity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Dopamine receptors: from structure to function

28 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

28 July 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia. Analysis using denaturing gradient gel electrophoresis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Hydrophobic Residues of the D2 Dopamine Receptor Are Important for Binding and Signal Transduction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Cloning of the cDNA and gene for a human D2 dopamine receptor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Direct sequencing of the dopamine D2 receptor (DRD2) in schizophrenics reveals three polymorphisms but no structural change in the receptor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Detection and characterization of additional DNA polymorphisms in the dopamine D2 receptor gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Structure and linkage of the D2 dopamine receptor and neural cell adhesion molecule genes on human chromosome 11q23.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21836

Essential myoclonus and myoclonic dystonia

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.96.9.5173

Essential familial myoclonus.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.96.9.5173

21 January 2018

1 reference

12 December 2020

Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation

1 reference

12 December 2020

Hereditary essential myoclonus in a large Norwegian family

1 reference

12 December 2020

Genetic predisposition in alcoholism: association of the D2 dopamine receptor TaqI B1 RFLP with severe alcoholics

1 reference

12 December 2020

The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

1 reference

12 December 2020

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation

1 reference

12 December 2020

Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.

1 reference

12 December 2020

Linkage studies in alcohol-responsive myoclonic dystonia

1 reference

12 December 2020

A cluster of aromatic residues in the sixth membrane-spanning segment of the dopamine D2 receptor is accessible in the binding-site crevice

1 reference

12 December 2020

Inherited myoclonus-dystonia syndrome

1 reference

12 December 2020

D2 dopamine receptor and GABAA receptor β3 subunit genes and alcoholism

1 reference

12 December 2020

Alpha-synuclein and Parkinson's disease

1 reference

12 December 2020

Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion

1 reference

12 December 2020

Hereditary essential myoclonus

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.96.9.5173

1 reference

29 July 2017

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1 reference

29 July 2017

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