Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (Q28510201)

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English	Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1	scientific journal article

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scholarly article

1 reference

24 January 2017

Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (English)

1 reference

24 January 2017

Fumarylacetoacetate hydrolase

1 reference

GOA release 2020-03-11

author name string

J. L. Aponte

1

1 reference

24 January 2017

G. A. Sega

2

1 reference

24 January 2017

L. J. Hauser

3

1 reference

24 January 2017

M. S. Dhar

4

1 reference

24 January 2017

C. M. Withrow

5

1 reference

24 January 2017

D. A. Carpenter

6

1 reference

24 January 2017

E. M. Rinchik

7

1 reference

24 January 2017

C. T. Culiat

8

1 reference

24 January 2017

D. K. Johnson

9

1 reference

24 January 2017

language of work or name

0 references

publication date

16 January 2001

1 reference

24 January 2017

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

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24 January 2017

98

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24 January 2017

2

1 reference

24 January 2017

641–645

1 reference

24 January 2017

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Two novel mutations involved in hereditary tyrosinemia type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

Specific-locus test shows ethylnitrosourea to be the most potent mutagen in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

19 March 2017

N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

29 September 2017

Analysis of the albino-locus region of the mouse: IV. Characterization of 34 deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

29 September 2017

Hereditary tyrosinemia type I--an overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

29 September 2017

A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

29 September 2017

Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

29 September 2017

Chromosome jumping from flanking markers defines the minimal region for alf/hsdr-1 within the albino-deletion complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

29 September 2017

Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

29 September 2017

Defects in RNA splicing and the consequence of shortened translational reading frames

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Determination of urinary succinylacetone by capillary gas chromatography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Determination of succinylacetone and succinylacetoacetate in physiological samples as the common product 5(3)-methyl-3(5)-isoxazole propionic acid using an isotope dilution method and mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=14641

2 June 2018

Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.98.2.641

21 January 2018

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurologic crises in hereditary tyrosinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical mapping of the albino-deletion complex in the mouse to localize alf/hsdr-1, a locus required for neonatal survival

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/11209059

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.98.2.641

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2001PNAS...98..641A

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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