Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene (Q71847797)

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scientific article published on 01 November 1996

Language	Label	Description	Also known as
English	Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene	scientific article published on 01 November 1996

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8950197%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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

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21 October 2019

cerebrotendinous xanthomatosis

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Ingemar Björkhem

10

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21 October 2019

Ingemar Björkhem

11

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21 October 2019

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W Chen

1

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21 October 2019

S Kubota

2

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21 October 2019

Y Nishimura

3

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21 October 2019

S Nozaki

4

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21 October 2019

S Yamashita

5

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21 October 2019

T Nakagawa

6

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21 October 2019

K Kameda-Takemura

7

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21 October 2019

M Menju

8

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21 October 2019

Y Matsuzawa

9

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21 October 2019

G Eggertsen

12

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21 October 2019

Y Seyama

13

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21 October 2019

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1 November 1996

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21 October 2019

Biochimica et Biophysica Acta

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21 October 2019

1317

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21 October 2019

2

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21 October 2019

119-126

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21 October 2019

Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism

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Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis

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Atherogenic risk factors in cerebrotendinous xanthomatosis

1 reference

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Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid

1 reference

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Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study

1 reference

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A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain

1 reference

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Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family

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Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism

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

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

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

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

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

1 reference

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Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

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Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system

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Quantitative analysis of sterols in serum by high-performance liquid chromatography. Application to the biochemical diagnosis of cerebrotendinous xanthomatosis

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Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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Optimization of nonradioisotopic single strand conformation polymorphism analysis with a conventional minislab gel electrophoresis apparatus

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1 reference

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Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry

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Identifiers

10.1016/S0925-4439(96)00043-9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8950197%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8950197%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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