Results 31 to 40 of about 6,021,091 (244)
Clinical expression of Menkes disease in females with normal karyotype
Orphanet Journal of Rare Diseases, 2012 Background Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males.
Møller Lisbeth +13 more
doaj +1 more source
Epigenetics & Chromatin, 2008 Background X chromosome inactivation is the mechanism used in mammals to achieve dosage compensation of X-linked genes in XX females relative to XY males. Chromosome silencing is triggered in cis by expression of the non-coding RNA Xist. As such, correct
Nesterova Tatyana B +10 more
doaj +1 more source
IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]
, 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 +1 more source
Conversion of random X-inactivation to imprinted X-inactivation by maternal PRC2
eLife, 2019 Imprinted X-inactivation silences genes exclusively on the paternally-inherited X-chromosome and is a paradigm of transgenerational epigenetic inheritance in mammals. Here, we test the role of maternal vs.
Clair Harris +7 more
doaj +1 more source
Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis
FEBS Letters, EarlyView.Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee +7 more
wiley +1 more source
Using interpretable machine learning to understand gene silencing dynamics during X-chromosome inactivation [PDF]
, 2020 To equalize gene dosage between sexes, the long non-coding RNA Xist mediates chromosome-wide gene silencing of one X Chromosome in female mammals - a process known as X chromosome inactivation (XCI).
Barros de Andrade e Sousa, Lisa +1 more
core +1 more source
Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics
FEBS Letters, EarlyView.Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt +8 more
wiley +1 more source
Mean Expression of the X-Chromosome is Associated with Neuronal Density. [PDF]
, 2012 peer reviewedBackground: Neurodegenerative diseases are characterized by key features such as loss of neurons, astrocytosis, and microglial activation/proliferation. These changes cause differences in the density of cell types between control and disease
Pascal F. Durrenberger +43 more
core +1 more source
Molecular Cytogenetics, 2023 Background Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype.
Shengfang Qin +9 more
doaj +1 more source
FEBS Letters, EarlyView.How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley +1 more source