Results 271 to 280 of about 196,851 (322)
Calcium‐binding S100 proteins are important mediators of inflammation in humans. Distant members of this family have been recently discovered in teleost fish but their resemblance to human proteins has not been explored yet. This study demonstrates that zebrafish‐specific S100i1 and S100i2 (ictacalcins) possess identical structural organization and ...
Liz Hernández +13 more
wiley +1 more source
Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio +12 more
wiley +1 more source
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues. [PDF]
Tomofuji Y +35 more
europepmc +1 more source
A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family. [PDF]
Sun MX +7 more
europepmc +1 more source
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Regulation of X-chromosome inactivation by the X-inactivation centre
Nature Reviews Genetics, 2011X-chromosome inactivation (XCI) ensures dosage compensation in mammals and is a paradigm for allele-specific gene expression on a chromosome-wide scale. Important insights have been made into the developmental dynamics of this process. Recent studies have identified several cis- and trans-acting factors that regulate the initiation of XCI via the X ...
Sandrine Augui, E. Nora, E. Heard
semanticscholar +3 more sources
2013
The dimorphism of the sex chromosomes has led to some of the most dramatic epigenetic phenomena known in order to achieve dosage compensation between the sexes. Mammalian X-chromosome inactivation (XCI) requires the differential treatment of two essentially identical chromosomes in the same nuclear environment.
Wendy P. Robinson +4 more
openaire +2 more sources
The dimorphism of the sex chromosomes has led to some of the most dramatic epigenetic phenomena known in order to achieve dosage compensation between the sexes. Mammalian X-chromosome inactivation (XCI) requires the differential treatment of two essentially identical chromosomes in the same nuclear environment.
Wendy P. Robinson +4 more
openaire +2 more sources
Mammalian X Chromosome Inactivation
1992The initial step in mammalian sexual differentiation is based on the XX: XY chromosomal system. In order to function properly, this chromosomal mechanism must be regulated to eliminate the aneuploidy effects in somatic tissues and still insure normal sexual differentiation and development.
S M, Gartler, K A, Dyer, M A, Goldman
openaire +2 more sources

