Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy.

Background: Genomic imprinting is a process causing genes to be expressed according to parental origin. Imprinting acts to coordinate fetal and prenatal growth, as well as control postnatal adaptations. Studies on human imprinting are confounded by tissue availability, sampling variability and limitations posed by tissue-specific expression and cellular heterogeneity within tissues.

Transcriptome changes affecting Hedgehog and cytokine signalling in the umbilical cord: implications for disease risk.

Background: Babies born at lower gestational ages or smaller birthweights have a greater risk of poorer health in later life. Both the causes of these sub-optimal birth outcomes and the mechanism by which the effects are transmitted over decades are the subject of extensive study. We investigated whether a transcriptomic signature of either birthweight or gestational age could be detected in umbilical cord RNA.

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).

Leukocyte adhesion deficiency type-1 (LAD-1) is an autosomal recessive immunodeficiency caused by mutations in the beta2 integrin, CD18, that impair CD11/CD18 heterodimer surface expression and/or function. Absence of functional CD11/CD18 integrins on leukocytes, particularly neutrophils, leads to their incapacity to adhere to the endothelium and migrate to sites of infection. We studied 3 LAD-1 patients with markedly diminished neutrophil CD18 expression, each of whom had a small population of lymphocytes with normal CD18 expression (CD18(+)).

Epitope mapping of monoclonal antibody to integrin alphaL beta2 hybrid domain suggests different requirements of affinity states for intercellular adhesion molecules (ICAM)-1 and ICAM-3 binding.

Integrin undergoes different activation states by changing its quaternary conformation. The integrin beta hybrid domain acts as a lever for the transmission of activation signal. The displacement of the hybrid domain can serve to report different integrin activation states.

The integrin alpha L beta 2 hybrid domain serves as a link for the propagation of activation signal from its stalk regions to the I-like domain.

Integrin activation involves global conformational changes as demonstrated by various functional and structural analyses. The integrin beta hybrid domain is proposed to be involved in the propagation of this activation signal. Our previous study showed that the integrin beta(2)-specific monoclonal antibody 7E4 abrogates monoclonal antibody KIM185-activated but not Mg(2+)/EGTA-activated leukocyte function-associated antigen-1 (LFA-1; alpha(L)beta(2))-mediated adhesion to ICAM-1.