Results 41 to 50 of about 332,161 (328)

Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human Filamin A (FLNA) diseases

open access: yesBMC Research Notes, 2012
Background Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA)
Douvaras Panagiotis   +7 more
doaj   +1 more source

X chromosomes alternate between two states prior to random X-inactivation. [PDF]

open access: yesPLoS Biology, 2006
Early in the development of female mammals, one of the two X chromosomes is silenced in half of cells and the other X chromosome is silenced in the remaining half. The basis of this apparent randomness is not understood.
Susanna Mlynarczyk-Evans   +6 more
doaj   +1 more source

SHOX and sex difference in height: a hypothesis

open access: yesEndocrine Journal
The mean height is taller in males than in females, except for early teens. In this regard, previous studies have revealed that (1) distribution of the mean adult heights in subjects with disorders accompanied by discordance between sex chromosome ...
Tsutomu Ogata   +2 more
doaj   +1 more source

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

open access: yesHuman Genomics, 2019
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
doaj   +1 more source

Fifty years of X-inactivation research [PDF]

open access: yesDevelopment, 2011
The third X-inactivation meeting ‘Fifty years of X-inactivation research’, which celebrated the fiftieth anniversary of Mary Lyon’s formulation of the X-inactivation hypothesis, was an EMBO workshop held in Oxford, UK, in July 2011. This conference brought together the usual suspects from the field, as well as younger researchers, to discuss recent ...
A.-V. Gendrel, E. Heard
openaire   +2 more sources

Studies on the Cobalt Deficiency in Ruminants (III) : Effects of Thiamine, Glucose and Cobalamin Injection on the Metabolism of Cobalt-deficient Sheep [PDF]

open access: yes, 1965
International audienceN-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA have ...
AhMew, Nicholas   +30 more
core   +8 more sources

Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

open access: yesCell Reports, 2019
Summary: Neural tube defects (NTDs) are common birth defects in humans and show an unexplained female bias. Female mice lacking the tumor suppressor p53 display NTDs with incomplete penetrance. We found that the combined loss of pro-apoptotic BIM and p53
Alex R.D. Delbridge   +21 more
doaj   +1 more source

X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo [PDF]

open access: yes, 1982
Electrophoretic variant forms of the X-linked enzyme phosphoglycerate kinase (PGK-1, E.C.2, 7, 2, 3) have been used to examine X-chromosome mosaicism in tissues from 121/2-day post coitum heterozygous female mouse embryos.
Fosten, M., McMahon, A., Monk, M.
core  

Reciprocal control of viral infection and phosphoinositide dynamics

open access: yesFEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

X-Chromosome Inactivation and Related Diseases

open access: yesGenetics Research, 2022
X-chromosome inactivation (XCI) is the form of dosage compensation in mammalian female cells to balance X-linked gene expression levels of the two sexes.
Zhuo Sun, Jinbo Fan, Yang Wang
doaj   +1 more source

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