(Q37500313)

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29 January 2020

review article

1 reference

title

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene (English)

1 reference

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29 January 2020

main subject

primary hyperoxaluria

1 reference

primary hyperoxaluria type I

inferred from title

1 reference

3

1 reference

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29 January 2020

Marion Coulter-Mackie

5

1 reference

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29 January 2020

Daniela Giachino

7

1 reference

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29 January 2020

author name string

Emma L Williams

1

1 reference

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29 January 2020

Cecile Acquaviva

2

1 reference

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29 January 2020

Francoise Chevalier

4

1 reference

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29 January 2020

Carla G Monico

6

1 reference

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29 January 2020

Tricia Owen

8

1 reference

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29 January 2020

Angela Robbiano

9

1 reference

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29 January 2020

Eduardo Salido

10

1 reference

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29 January 2020

Hans Waterham

11

1 reference

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29 January 2020

Gill Rumsby

12

1 reference

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29 January 2020

language of work or name

1 reference

1 June 2009

1 reference

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29 January 2020

1 reference

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29 January 2020

volume

30

1 reference

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29 January 2020

issue

6

1 reference

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29 January 2020

page(s)

910-917

1 reference

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Pyridoxal 5'-phosphate binding of a recombinant rat serine: pyruvate/alanine:glyoxylate aminotransferase.

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

Functional analysis of the 5'-flanking region of the human alanine:glyoxylate aminotransferase gene AGXT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

A new micro-assay for human liver alanine: glyoxylate aminotransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Identification of 5 novel mutations in the AGXT gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Molecular aetiology of primary hyperoxaluria and its implications for clinical management

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

The action of pyridoxine in primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Peroxisomal import of human alanine:glyoxylate aminotransferase requires ancillary targeting information remote from its C terminus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Characterization of peroxisomal targeting signals on alanine: glyoxylate aminotransferase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Changing pattern of primary hyperoxaluria in Switzerland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria type I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Genetic analysis--a diagnostic tool for primary hyperoxaluria type I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeti

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

TaqI polymorphism at the alanine:glyoxylate aminotransferase (AGXT) gene locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Crystallization and preliminary crystallographic analysis of human alanine:glyoxylate aminotransferase and its polymorphic variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21021

7 January 2021

Identifiers

DOI

10.1002/HUMU.21021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19479957%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference