Results 51 to 60 of about 919,210 (312)

IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]

open access: yes, 2010
Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
core  

The choice of the filtering method in microarrays affects the inference regarding dosage compensation of the active X-chromosome.

open access: yesPLoS ONE, 2011
BackgroundThe hypothesis of dosage compensation of genes of the X chromosome, supported by previous microarray studies, was recently challenged by RNA-sequencing data.
Raphaële Castagné   +10 more
doaj   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

open access: yesFEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa   +5 more
wiley   +1 more source

Sex-linked genes and species differences in Lepidoptera

open access: yes, 1994
: I review reports on the genetic basis for species differences in the Lepidoptera. In the six best-studied species complexes, more than half of all ecological, behavioral, or physiological differences among species are controlled by X-linked genes ...
Sperling, F. A. H.
core   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

open access: yesFEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz   +11 more
wiley   +1 more source

Single-cell analysis reveals X upregulation is not global in pre-gastrulation embryos

open access: yesiScience, 2022
Summary: In mammals, transcriptional inactivation of one X chromosome in female compensates for the dosage of X-linked gene expression between the sexes.
Hemant Chandru Naik   +4 more
doaj   +1 more source

Absence of X-chromosome dosage compensation in the primordial germ cells of Drosophila embryos

open access: yesScientific Reports, 2021
Dosage compensation is a mechanism that equalizes sex chromosome gene expression between the sexes. In Drosophila, individuals with two X chromosomes (XX) become female, whereas males have one X chromosome (XY).
Ryoma Ota   +4 more
doaj   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

open access: yesFEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa   +3 more
wiley   +1 more source

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

open access: yesFEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai   +4 more
wiley   +1 more source

The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis.

open access: yes, 2010
BACKGROUND: The Y chromosome of mammals is particularly prone to accumulate genes related to male fertility. However, the high rate of molecular evolution on this chromosome predicts reduced power to the across-species comparative approach in identifying
Ricardo N Miguel   +11 more
core   +1 more source

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