Research ExplorerPublicationsSymptoms in carriers of adrenoleukodystrophy relate to skewe...

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

Standard

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. / Maier, Esther M; Kammerer, Stefan; Muntau, Ania C; Wichers, Maria; Braun, Andreas; Roscher, Adelbert A.

In: ANN NEUROL, Vol. 52, No. 5, 11.2002, p. 683-8.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Maier, EM, Kammerer, S, Muntau, AC, Wichers, M, Braun, A & Roscher, AA 2002, 'Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation', ANN NEUROL, vol. 52, no. 5, pp. 683-8. https://doi.org/10.1002/ana.10376

APA

Maier, E. M., Kammerer, S., Muntau, A. C., Wichers, M., Braun, A., & Roscher, A. A. (2002). Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. ANN NEUROL, 52(5), 683-8. https://doi.org/10.1002/ana.10376

Vancouver

Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A, Roscher AA. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. ANN NEUROL. 2002 Nov;52(5):683-8. https://doi.org/10.1002/ana.10376

Bibtex

@article{360acb8477e7410f849f5d1ea9afadd2,
title = "Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation",
abstract = "Skewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers. We observed highly skewed X inactivation in 32% of 22 symptomatic and asymptomatic carriers but not in 7 related and 35 unrelated controls. Skewing of X inactivation correlated with clinical neurological scores but not with the extent of very long-chain fatty acid accumulation. Transcript analysis in cultured fibroblasts revealed that skewing could occur both in favor of the mutant and the wild-type allele. Adrenoleukodystrophy carriers are more susceptible to develop skewing of X inactivation in favor of the mutant allele being associated with the manifestation of symptoms.",
keywords = "Adolescent, Adrenoleukodystrophy/blood, Adult, Child, Preschool, Fatty Acids/blood, Female, Fibroblasts/physiology, Heterozygote, Humans, Middle Aged, Reference Values, Sex Chromosome Aberrations, Transcription, Genetic, X Chromosome",
author = "Maier, {Esther M} and Stefan Kammerer and Muntau, {Ania C} and Maria Wichers and Andreas Braun and Roscher, {Adelbert A}",
year = "2002",
month = nov,
doi = "10.1002/ana.10376",
language = "English",
volume = "52",
pages = "683--8",
journal = "ANN NEUROL",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

AU - Maier, Esther M

AU - Kammerer, Stefan

AU - Muntau, Ania C

AU - Wichers, Maria

AU - Braun, Andreas

AU - Roscher, Adelbert A

PY - 2002/11

Y1 - 2002/11

N2 - Skewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers. We observed highly skewed X inactivation in 32% of 22 symptomatic and asymptomatic carriers but not in 7 related and 35 unrelated controls. Skewing of X inactivation correlated with clinical neurological scores but not with the extent of very long-chain fatty acid accumulation. Transcript analysis in cultured fibroblasts revealed that skewing could occur both in favor of the mutant and the wild-type allele. Adrenoleukodystrophy carriers are more susceptible to develop skewing of X inactivation in favor of the mutant allele being associated with the manifestation of symptoms.

AB - Skewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers. We observed highly skewed X inactivation in 32% of 22 symptomatic and asymptomatic carriers but not in 7 related and 35 unrelated controls. Skewing of X inactivation correlated with clinical neurological scores but not with the extent of very long-chain fatty acid accumulation. Transcript analysis in cultured fibroblasts revealed that skewing could occur both in favor of the mutant and the wild-type allele. Adrenoleukodystrophy carriers are more susceptible to develop skewing of X inactivation in favor of the mutant allele being associated with the manifestation of symptoms.

KW - Adolescent

KW - Adrenoleukodystrophy/blood

KW - Adult

KW - Child, Preschool

KW - Fatty Acids/blood

KW - Female

KW - Fibroblasts/physiology

KW - Heterozygote

KW - Humans

KW - Middle Aged

KW - Reference Values

KW - Sex Chromosome Aberrations

KW - Transcription, Genetic

KW - X Chromosome

U2 - 10.1002/ana.10376

DO - 10.1002/ana.10376

M3 - SCORING: Journal article

C2 - 12402273

VL - 52

SP - 683

EP - 688

JO - ANN NEUROL

JF - ANN NEUROL

SN - 0364-5134

IS - 5

ER -