(Q35452383)

English

Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

cerebrotendinous xanthomatosis

1 reference

based on heuristic

inferred from title

parkinsonian syndrome

1 reference

based on heuristic

inferred from title

author name string

N Wakamatsu

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

M Hayashi

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

H Kawai

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

H Kondo

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Y Gotoda

5

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Y Nishida

6

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

R Kondo

7

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

S Tsuji

8

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

T Matsumoto

9

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

0 references

publication date

1 August 1999

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

67

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

195-198

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Parkinsonism in cerebrotendinous xanthomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

27 July 2018

Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

26 September 2018

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

26 September 2018

Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1736478

26 September 2018

Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/10406988

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JNNP.67.2.195

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

ResearchGate publication ID

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