Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation. (Q36656106)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9207099%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation (English)

1 reference

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Niemann–Pick disease, type C

4 November 2019

main subject

1 reference

5

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4 November 2019

William J Pavan

13

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4 November 2019

author name string

J Z Gu

1

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4 November 2019

E D Carstea

2

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4 November 2019

C Cummings

3

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4 November 2019

J A Morris

4

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4 November 2019

D Zhang

6

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4 November 2019

K G Coleman

7

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4 November 2019

A M Cooney

8

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4 November 2019

M E Comly

9

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4 November 2019

L Fandino

10

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4 November 2019

C Roff

11

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4 November 2019

D A Tagle

12

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4 November 2019

P G Pentchev

14

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4 November 2019

M A Rosenfeld

15

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4 November 2019

language of work or name

English

0 references

publication date

1 July 1997

1 reference

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

4 November 2019

published in

1 reference

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4 November 2019

volume

94

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4 November 2019

issue

14

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4 November 2019

page(s)

7378-7383

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Oncogene-transformed granulosa cells as a model system for the study of steroidogenic processes

4 November 2019

cites work

1 reference

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Protein measurement with the Folin phenol reagent

30 September 2017

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Functional human CFTR produced by stable Chinese hamster ovary cell lines derived using yeast artificial chromosomes

30 September 2017

1 reference

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Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes.

30 September 2017

1 reference

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Linkage of Niemann-Pick disease type C to human chromosome 18

30 September 2017

1 reference

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The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol

30 September 2017

1 reference

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Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics

30 September 2017

1 reference

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A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

30 September 2017

1 reference

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Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking

30 September 2017

1 reference

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Functional complementation of ataxia-telangiectasia group D (AT-D) cells by microcell-mediated chromosome transfer and mapping of the AT-D locus to the region 11q22-23.

30 September 2017

1 reference

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The human HPRT gene on a yeast artificial chromosome is functional when transferred to mouse cells by cell fusion

30 September 2017

1 reference

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Ataxia telangiectasia resists gene cloning: an account of parameters determining gene transfer into human recipient cells

30 September 2017

1 reference

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Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene

30 September 2017

1 reference

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Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts.

28 June 2018

1 reference

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Vectors for inserting selectable markers in vector arms and human DNA inserts of yeast artificial chromosomes (YACs).

28 June 2018

1 reference

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A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metabolism similar to those in type C Niemann-Pick disease

28 June 2018

1 reference

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Polyethylene glycol-induced mammalian cell hybridization: effect of polyethylene glycol molecular weight and concentration

28 June 2018

1 reference

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Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans

28 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.94.14.7378

A lysosomal storage disorder in mice: a model of Niemann-Pick disease

21 January 2018

1 reference

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A molecular genetic linkage map of mouse chromosome 18, includingspm, Grl-1, Fim-2/c-fms, andMbp

21 January 2018

1 reference

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Patterns of integration of exogenous DNA sequences transfected into mammalian cells of primate and rodent origin

21 January 2018

1 reference

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Differences between rodent and human cell lines in the amount of integrated DNA after transfection

21 January 2018

1 reference

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SV 40-transformed normal and DNA-repair-deficient human fibroblasts can be transfected with high frequency but retain only limited amounts of integrated DNA

21 January 2018

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[A possible same genetic defect in two Niemann-Pick disease model mice]

21 January 2018

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12 December 2020

Quantification of low density lipoprotein binding and cholesterol accumulation by single human fibroblasts using fluorescence microscopy

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12 December 2020

A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol

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12 December 2020

Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts

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12 December 2020

Identifiers

DOI

10.1073/PNAS.94.14.7378

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9207099%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9207099%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

9207099

1 reference