Results 41 to 50 of about 568,444 (262)
BackgroundIn female mammalian cells, random X chromosome inactivation (XCI) equalizes the dosage of X-encoded gene products to that in male cells. XCI is a stochastic process, in which each X chromosome has a probability to be inactivated. To obtain more
Kim Monkhorst +10 more
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Background Many human disease phenotypes manifest differently by sex, making the development of methods for incorporating X and Y-chromosome data into analyses vital.
Amy M. Inkster +4 more
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Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche +10 more
wiley +1 more source
Many autoimmune diseases, such as lupus and Sjögren’s syndrome, have a female bias and adult onset. One possible explanation for this bias is disruption of the inactive X chromosome, which is a major epigenetic feature in female cells. Indeed, only one X
Wesley H. Brooks, Yves Renaudineau
doaj
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault +12 more
wiley +1 more source
Sex-specific differences in primary Sjögren's disease
Many autoimmune diseases show a striking female sex predilection, including primary Sjögren's disease (pSD). Patients with pSD display exocrine gland pathology, such as salivary hypofunction and salivary and lacrimal gland inflammation.
Achamaporn Punnanitinont, Jill M. Kramer
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IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo +6 more
wiley +1 more source
Effect of terahertz irradiation on DNA damage repair in living cells
We investigated the effect of terahertz (THz) wave irradiation on DNA double‐strand break (DSB) repair in living cells. We found that THz irradiation enhanced DSB repair at specific frequencies, whereas heat treatment inhibited it, indicating that this effect is nonthermal and frequency‐specific.
Yuya Ueno +3 more
wiley +1 more source
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 analysis of the X chromosome.
Haiko Schurz +5 more
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A 35-year-old man presented with symmetrical inflammatory polyarthritis of the small and large joints and associated early-morning stiffness. He was assessed as having features in keeping with Klinefelter’s syndrome. It is evident from the literature that there is a relationship between Klinefelter’s syndrome and developing rheumatic conditions.
openaire +4 more sources

