Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC) (Q22009139)

GOA release 2020-03-11

signal transduction

1 reference

Hereditary neurological disease with acanthocytosis. A new syndrome

GOA release 2020-03-11

J P Rubio

1

J P

Rubio

1 reference

7 February 2023

E R Levy

series ordinal

2

author given names

E R

author last names

Levy

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7 February 2023

C Dobson-Stone

series ordinal

3

author given names

C

author last names

Dobson-Stone

1 reference

7 February 2023

A P Monaco

series ordinal

4

author given names

A P

author last names

Monaco

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7 February 2023

language of work or name

English

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publication date

1 April 1999

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published in

Genomics

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volume

57

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issue

1

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page(s)

84-93

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cites work

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Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study

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Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene

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Gene structure of murine Gna11 and Gna15: tandemly duplicated Gq class G protein alpha subunit genes

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Construction and characterization of a 10-fold genome equivalent rat P1-derived artificial chromosome library

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Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus.

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Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

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Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein

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The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression

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Chorea-acanthocytosis: report of a family and neuropathological study of two cases

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Parkinsonism with neuroacanthocytosis

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GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

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Activation of the β1 isozyme of phospholipase C by α subunits of the Gq class of G proteins

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

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Defective platelet activation in G alpha(q)-deficient mice.

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Evolution of the mammalian G protein alpha subunit multigene family

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7 January 2021

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping

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7 January 2021

Specificity of G alpha q and G alpha 11 gene expression in platelets and erythrocytes. Expressions of cellular differentiation and species differences

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7 January 2021

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

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7 January 2021

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

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7 January 2021

Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries

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Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

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Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

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7 January 2021

G protein diversity: a distinct class of alpha subunits is present in vertebrates and invertebrates

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7 January 2021

Characterization of G-protein alpha subunits in the Gq class: expression in murine tissues and in stromal and hematopoietic cell lines

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7 January 2021

Platelet signal transduction defect with Galpha subunit dysfunction and diminished Galphaq in a patient with abnormal platelet responses

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7 January 2021

Impaired motor coordination and persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking Galphaq

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7 January 2021

Characterization of Gq family G proteins GL1 alpha (G14 alpha), GL2 alpha (G11 alpha), and Gq alpha expressed in the baculovirus-insect cell system

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7 January 2021

Tubulin, Gq, and phosphatidylinositol 4,5-bisphosphate interact to regulate phospholipase Cbeta1 signaling

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7 January 2021

Galpha14 and Galphaq mediate the response to trypsin in Xenopus oocytes

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7 January 2021

Promiscuous Coupling of Receptors to Gq Class α Subunits and Effector Proteins in Pancreatic and Submandibular Gland Cells

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7 January 2021

Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region

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7 January 2021

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

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7 January 2021

Chorea-acanthocytosis: genetic linkage to chromosome 9q21

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7 January 2021

Released chromatin: linearized DNA for high resolution fluorescence in situ hybridization

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7 January 2021

Regional distribution and quantitative measurement of the phosphoinositidase C-linked guanine nucleotide binding proteins G11 alpha and Gq alpha in rat brain

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7 January 2021

Regulation of polyphosphoinositide-specific phospholipase C activity by purified Gq.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.5758

7 January 2021

Diversity of G proteins in signal transduction

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7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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7 January 2021

Genome maps 7. The human transcript map. Wall chart

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7 January 2021

A Gene Map of the Human Genome

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7 January 2021

A physical map of 30,000 human genes

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7 January 2021

Characterization of BCE-1, a transcriptional enhancer regulated by prolactin and extracellular matrix and modulated by the state of histone acetylation

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7 January 2021