[HTML][HTML] X-linked diseases: susceptible females

BR Migeon - Genetics in Medicine, 2020 - Elsevier
The role of X-inactivation is often ignored as a prime cause of sex differences in disease.
Yet, the way males and females express their X-linked genes has a major role in the …

X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies

BR Turk, C Theda, A Fatemi… - International Journal of …, 2020 - Wiley Online Library
Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

RC Allen, HY Zoghbi, AB Moseley… - American journal of …, 1992 - ncbi.nlm.nih.gov
The human androgen-receptor gene (HUMARA; GenBank) contains a highly polymorphic
trinucleotide repeat in the first exon. We have found that the methylation of HpaII and HhaI …

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

J Mosser, AM Douar, CO Sarde, P Kioschis, R Feil… - Nature, 1993 - nature.com
Abstract ADRENOLEUKODYSTROPHY (ALD) is an X-linked disease affecting 1/20,000
males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults1 …

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

BP Balaton, AM Cotton, CJ Brown - Biology of sex differences, 2015 - Springer
Background X chromosome inactivation is the epigenetic silencing of the majority of the
genes on one of the X chromosomes in XX therian mammals. In humans, approximately …

X-chromosome inactivation in mammals

E Heard, P Clerc, P Avner - Annual review of genetics, 1997 - annualreviews.org
▪ Abstract The inactive X chromosome differs from the active X in a number of ways; some of
these, such as allocyclic replication and altered histone acetylation, are associated with all …

X-linked adrenoleukodystrophy

HW Moser, A Mahmood, GV Raymond - Nature Clinical Practice …, 2007 - nature.com
Abstract X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1,
which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the …

The dominance theory of Haldane's rule.

M Turelli, HA Orr - Genetics, 1995 - academic.oup.com
Abstract" HALDANE's rule" states that, if species hybrids of one sex only are inviable or
sterile, the afflicted sex is much more likely to be heterogametic (XY) than homogametic …

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

M Engelen, M Barbier, IME Dijkstra, R Schür… - Brain, 2014 - academic.oup.com
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is
caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very …

Escape artists of the X chromosome

BP Balaton, CJ Brown - Trends in Genetics, 2016 - cell.com
Inactivation of one X chromosome in mammalian females achieves dosage compensation
between XX females and XY males; however, over 15% of human X-linked genes continue …