The X chromosome and sex-specific effects in infectious disease susceptibility
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 …
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 …
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 …
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 …
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 …
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 …
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
The study of sexual dimorphism in psychiatric and neurodevelopmental disorders is
challenging due to the complex interplay of diverse biological, psychological, and social …
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 …
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 …
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 …
chromosomal genes are expressed at comparable levels in males and females. Skewed X …