The X chromosome and sex-specific effects in infectious disease susceptibility

H Schurz, M Salie, G Tromp, EG Hoal, CJ Kinnear… - Human genomics, 2019 - Springer
The X chromosome and X-linked variants have largely been ignored in genome-wide and
candidate association studies of infectious diseases due to the complexity of statistical …

Age-related clonal hematopoiesis

LI Shlush - Blood, The Journal of the American Society of …, 2018 - ashpublications.org
Age-related alterations in the human blood system occur in B cells, T cells, cells of the innate
system, as well as hematopoietic stem and progenitor cells (HSPCs). Interestingly, age …

X‐chromosome inactivation in female patients with Fabry disease

L Echevarria, K Benistan, A Toussaint… - Clinical …, 2016 - Wiley Online Library
Fabry disease (FD) is an X‐linked genetic disorder caused by the deficient activity of
lysosomal α‐galactosidase (α‐Gal). While males are usually severely affected, clinical …

[图书][B] Sex itself: The search for male and female in the human genome

SS Richardson - 2019 - degruyter.com
Human genomes are 99.9 percent identical—with one prominent exception. Instead of a
matching pair of X chromosomes, men carry a single X, coupled with a tiny chromosome …

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

A Mehta, R Ricci, U Widmer, F Dehout… - European journal of …, 2004 - Wiley Online Library
Background Fabry disease is a rare X‐linked disorder caused by deficient activity of the
lysosomal enzyme α‐galactosidase A. Progressive accumulation of the substrate …

Autoimmune disease and gender: plausible mechanisms for the female predominance of autoimmunity

OL Quintero, MJ Amador-Patarroyo… - Journal of …, 2012 - Elsevier
A large number of autoimmune diseases (ADs) are more prevalent in women. The more
frequent the AD and the later it appears, the more women are affected. Many ideas mainly …

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

T Green, S Flash, AL Reiss - Neuropsychopharmacology, 2019 - nature.com
The study of sexual dimorphism in psychiatric and neurodevelopmental disorders is
challenging due to the complex interplay of diverse biological, psychological, and social …

Leber hereditary optic neuropathy

PYW Man, DM Turnbull, PF Chinnery - Journal of medical genetics, 2002 - jmg.bmj.com
Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that
preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the …

Xist RNA and the Mechanism of X Chromosome Inactivation

K Plath, S Mlynarczyk-Evans… - Annual review of …, 2002 - annualreviews.org
▪ Abstract Dosage compensation in mammals is achieved by the transcriptional inactivation
of one X chromosome in female cells. From the time X chromosome inactivation was initially …

Skewed X-inactivation is common in the general female population

E Shvetsova, A Sofronova, R Monajemi… - European Journal of …, 2019 - nature.com
X-inactivation is a well-established dosage compensation mechanism ensuring that X-
chromosomal genes are expressed at comparable levels in males and females. Skewed X …