Time-Delay Cosmography: Measuring the Hubble Constant and Other Cosmological Parameters with Strong Gravitational Lensing.

Multiply lensed images of a same source experience a relative time delay in the arrival of photons due to the path length difference and the different gravitational potentials the photons travel through. This effect can be used to measure absolute distances and the Hubble constant ( ) and is known as time-delay cosmography. The method is independent of the local distance ladder and early-universe physics and provides a precise and competitive measurement of .

Constraints on the Hubble constant from supernova Refsdal's reappearance.

The gravitationally lensed supernova Refsdal appeared in multiple images produced through gravitational lensing by a massive foreground galaxy cluster. After the supernova appeared in 2014, lens models of the galaxy cluster predicted that an additional image of the supernova would appear in 2015, which was subsequently observed. We use the time delays between the images to perform a blinded measurement of the expansion rate of the Universe, quantified by the Hubble constant ().

MAN1B1 deficiency: an unexpected CDG-II.

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient. Subsequently, 6 additional cases with MAN1B1-CDG were found.

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

In the past decade, the identification of most genes involved in Congenital Disorders of Glycosylation (CDG) (type I) was achieved by a combination of biochemical, cell biological and glycobiological investigations. This has been truly successful for CDG-I, because the candidate genes could be selected on the basis of the homology of the synthetic pathway of the dolichol linked oligosaccharide in human and yeast. On the contrary, only a few CDG-II defects were elucidated, be it that some of the discoveries represent wonderful breakthroughs, like e.

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Congenital disorders of glycosylation (CDG) are genetic diseases caused by abnormal protein and lipid glycosylation. In this chapter, we report the clinical, biochemical, and molecular findings in two siblings with an unidentified CDG (CDG-Ix). They are the first and the third child of healthy consanguineous Argentinean parents.