Yair Anikster

TL;DR: Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression.

TL;DR: It is suggested that some cases resolved by whole-exome sequencing will have direct therapeutic implications, and the application of appropriate bioinformatics analyses to clinical sequence data can also help implicate novel disease genes and suggest expanded phenotypes for known disease genes.

TL;DR: Three patients with homozygous mutations in the integrin α(3) gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa.

TL;DR: Examination of the autophagy-related fate of two key autophagic proteins in skin fibroblasts of an affected individual, as compared to a healthy control, found that both protein levels were decreased and that there was a more pronounced decrease in the lipidated form of LC3 (LC3II).

TL;DR: It is shown that recessive mutations in the ASNS gene are responsible for this syndrome and that asparagine synthesis is essential for the development and function of the brain but not for that of other organs.