(Q44624383)

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Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast

scientific article published on September 1, 2003

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 December 2017

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

1 reference

10.1016/S1096-7192(03)00137-9

https://api.crossref.org/works/10.1016/S1096-7192(03)00137-9

23 March 2024

1 reference

10.1016/S1096-7192(03)00137-9

https://api.crossref.org/works/10.1016/S1096-7192(03)00137-9

23 March 2024

1 reference

10.1016/S1096-7192(03)00137-9

https://api.crossref.org/works/10.1016/S1096-7192(03)00137-9

23 March 2024

author name string

Qi Ma

2

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Europe PubMed Central

PubMed publication ID

4 December 2017

David Cunningham

3

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Jo Peters

4

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Bruce Cattanach

5

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Martin Bard

6

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Marsha E. Lucas

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14567972

23 March 2024

Bradley K. Elmore

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14567972

23 March 2024

Gail E. Herman

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14567972

23 March 2024

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1 September 2003

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Europe PubMed Central

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4 December 2017

full work available at URL

https://api.elsevier.com/content/article/PII:S1096719203001379?httpAccept=text/xml

1 reference

10.1016/S1096-7192(03)00137-9

https://api.crossref.org/works/10.1016/S1096-7192(03)00137-9

23 March 2024

https://api.elsevier.com/content/article/PII:S1096719203001379?httpAccept=text/plain

1 reference

10.1016/S1096-7192(03)00137-9

https://api.crossref.org/works/10.1016/S1096-7192(03)00137-9

23 March 2024

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

80

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Europe PubMed Central

PubMed publication ID

4 December 2017

1-2

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

227-233

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase

1 reference

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7 January 2021

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Comparative genome sequence analysis of the Bpa/Str region in mouse and Man

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

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Characterization of the Saccharomyces cerevisiae ERG26 gene encoding the C-3 sterol dehydrogenase (C-4 decarboxylase) involved in sterol biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular endocrinology of hydroxysteroid dehydrogenases

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

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Regulation of the mevalonate pathway

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

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Membrane-bound enzymes of cholesterol synthesis from lanosterol

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Homologous genes for X-linked chondrodysplasia punctata in man and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hünermann syndrome and its murine homologue, the bare patches mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

X-Linked dominant disorders of cholesterol biosynthesis in man and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Implementation of a large-scale ENU mutagenesis program: towards increasing the mouse mutant resource.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

The human lamin B receptor/sterol reductase multigene family

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and expression of the human delta7-sterol reductase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Purification, characterization and catalytic properties of human sterol 8-isomerase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Stimulation by heme of steryl ester synthase and aerobic sterol exclusion in the yeast Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Inherited disorders of cholesterol biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Malformation syndromes due to inborn errors of cholesterol synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Desmosterolosis: a new inborn error of cholesterol biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Inborn errors of sterol biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Mouse Tdho abnormality results from double point mutations of the emopamil binding protein gene (Ebp).

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900137-9

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1096-7192(03)00137-9

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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