ArticleJournal of medical genetics1993
Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed.
- Article
- AnMolecular therapy. Methods & clinical development · 2024Article
- Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.Communications medicine · 2024Article
- Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion.Biology · 2023Article
- X-linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation.Experimental and therapeutic medicine · 2022Article
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Skewed X-inactivation is common in the general female population.European journal of human genetics : EJHG · 2019Article
- The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.The application of clinical genetics · 2015Review
- Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.Orphanet journal of rare diseases · 2014Article
- Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.PloS one · 2013Article
- Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.Orphanet journal of rare diseases · 2012Article
- Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.American journal of human genetics · 1996Article
- No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.Human genetics · 1996Article
- DNA diagnosis of X-linked adrenoleukodystrophy.Journal of inherited metabolic disease · 1995Review
- X inactivation patterns in female monozygotic twins and their families.Journal of medical genetics · 1994Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A study of X inactivation in 12 female carriers for adrenoleucodystrophy showed no evidence that skewed patterns are related to clinical manifestation. Other possible mechanisms to explain manifestation in females are considered.
Indexed as
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.