Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure (Q28379342)

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9 November 2019

title

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure (English)

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9 November 2019

9

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9 November 2019

author name string

Y Liu

1

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9 November 2019

K Suzuki

2

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9 November 2019

J D Reed

3

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9 November 2019

A Grinberg

4

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9 November 2019

H Westphal

5

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9 November 2019

A Hoffmann

6

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9 November 2019

T Döring

7

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9 November 2019

K Sandhoff

8

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9 November 2019

language of work or name

English

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publication date

1 March 1998

1 reference

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

9 November 2019

published in

1 reference

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9 November 2019

volume

95

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9 November 2019

issue

5

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9 November 2019

page(s)

2503-2508

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Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

9 November 2019

cites work

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

20 March 2017

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Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy

21 January 2018

1 reference

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Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

20 March 2017

1 reference

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Mutations causing Gaucher disease

20 March 2017

1 reference

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Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease

20 March 2017

1 reference

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The double-strand-break repair model for recombination

20 March 2017

1 reference

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Altering the genome by homologous recombination

20 March 2017

1 reference

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Mouse model of G M2 activator deficiency manifests cerebellar pathology and motor impairment

20 March 2017

1 reference

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Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

20 March 2017

1 reference

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Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Expression of mutated glucocerebrosidase alleles in human cells

7 April 2017

1 reference

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The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

29 September 2017

1 reference

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Use of double-replacement gene targeting to replace the murine alpha-lactalbumin gene with its human counterpart in embryonic stem cells and mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Double replacement: strategy for efficient introduction of subtle mutations into the murine Col1a-1 gene by homologous recombination in embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Testing an "in-out" targeting procedure for making subtle genomic modifications in mouse embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Target frequency and integration pattern for insertion and replacement vectors in embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Double-strand gap repair in a mammalian gene targeting reaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Hypothyroidism delays fetal stratum corneum development in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=19391

Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease

2 June 2018

1 reference

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Location of crossovers during gene targeting with insertion and replacement vectors

2 June 2018

1 reference

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Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

2 June 2018

1 reference

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Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?

2 June 2018

1 reference

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Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.95.5.2503

Selective cleavage of human DNA: RecA-assisted restriction endonuclease (RARE) cleavage.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.95.5.2503

Introduction of a subtle mutation into the Hox-2.6 locus in embryonic stem cells

21 January 2018

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Crossref

https://api.crossref.org/works/10.1073%2FPNAS.95.5.2503

21 January 2018

1 reference

12 December 2020

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

1 reference

12 December 2020

Extensive 3'-overhanging, single-stranded DNA associated with the meiosis-specific double-strand breaks at the ARG4 recombination initiation site

1 reference

12 December 2020

Altering mice by homologous recombination using embryonic stem cells

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12 December 2020

Development of the epidermis in the newborn

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.95.5.2503

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482915%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

0 references

1 reference

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9 November 2019

PubMed publication ID

9482915

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9482915%20AND%20SRC:MED&resulttype=core&format=json