Genomic rearrangements in sporadic lymphangioleiomyomatosis: an evolving genetic story

The evolving genetic risk for sporadic ALS.

OBJECTIVE To estimate the genetic risk conferred by known amyotrophic lateral sclerosis (ALS)-associated genes to the pathogenesis of sporadic ALS (SALS) using variant allele frequencies combined with predicted variant pathogenicity. METHODS Whole exome sequencing and repeat expansion PCR of C9orf72 and ATXN2 were performed on 87 patients of European ancestry with SALS seen at the University ...

Chronic urticaria: an evolving story.

Adolescent form of sporadic lymphangioleiomyomatosis (S-LAM).

1. Kücüksezer UC, Palomares O, Rückert B, Jartti T, Puhakka T, Nandy A, et al. Triggering of specific toll-like receptors and proinflammatory cytokines breaks allergen-specific T-cell tolerance in human tonsils and peripheral blood. J Allergy Clin Immunol. 2013;131:875--85. 2. Palomares O, Rückert B, Jartti T, Kücüksezer UC, Puhakka T, Gomez E, et al. Induction and maintenance of allergen-speci...

Adolescent form of sporadic lymphangioleiomyomatosis ( S - LAM )

1. Kücüksezer UC, Palomares O, Rückert B, Jartti T, Puhakka T, Nandy A, et al. Triggering of specific toll-like receptors and proinflammatory cytokines breaks allergen-specific T-cell tolerance in human tonsils and peripheral blood. J Allergy Clin Immunol. 2013;131:875--85. 2. Palomares O, Rückert B, Jartti T, Kücüksezer UC, Puhakka T, Gomez E, et al. Induction and maintenance of allergen-speci...

Albuminuria and diabetic nephropathy: an evolving story.