Riitta Herva

TL;DR: A crucial role for this protein in the development or function of the kidney filtration barrier is demonstrated and by Northern and in situ hybridization was shown to be specifically expressed in renal glomeruli.

TL;DR: It is suggested that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance.

TL;DR: Clinical, histopathological, and molecular data suggest that MCL and HLRCC are a single disease with a variable phenotype and the possibility that members of leiomyomatosis families are predisposed to renal cell cancer should be taken into account.

TL;DR: This work reports that the defective gene underlying lethal motoneuron syndrome LCCS1 is the mRNA export mediator GLE1, and elucidates mRNA processing as a critical molecular mechanism in mot oneuron development and maturation.

TL;DR: In this article, the authors performed whole-exome sequencing in four unrelated individuals with cerebroretinal microangiopathy with calcifications and cysts and observed four recessively inherited compound heterozygous mutations in CTC1, which encodes the CTS telomere maintenance complex component 1.