Catherine A. Buchanan

A progeria syndrome links DNA hypermethylation to age-related pathology

Dan Sarni, Gráinne Neary, Paula L. Carroll, Chris S. Vink et autres

Declining tissue function and regenerative capacity underlie many chronic diseases. Experimentally establishing the mechanistic basis for such tissue aging presents substantial challenges, given decades-long timescales and multifactorial origins. Epigenetic alterations have been proposed to have a key etiological role, but whether they …

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A progeria syndrome links DNA hypermethylation to age-related pathology.

Dan Sarni, Gráinne Neary, Paula L. Carroll, Chris S. Vink et autres

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Nicola de Prisco, Caitlin Ford, Nathan D. Elrod, Winston Lee et autres

Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving the pre-mRNA at poly(A) sites that can lie within the 3' untranslated region (3'UTR), introns, or exons. Most studies focus on APA within the 3'UTR; however, here, we show that …

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Ichthyosis, petechiae, and arthrogryposis in a neonate

Courtney N. Haller, Hana Paladichuk, Catherine A. Ziats, Catherine A. Buchanan et autres

Gaucher disease is a rare lysosomal storage disorder caused by a deficiency in glucocerebrosidase. This enzyme deficiency leads to the accumulation of toxic metabolites in various organs. Multiple subtypes of this disease have been described; however, the perinatal-lethal form is extremely rare …

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

Lauren O’Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman, Dean Sarco et autres

The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heterozygous pathogenic variants in PRPF8 have been associated with autosomal dominant retinitis pigmentosa. More recently, PRPF8 was …

us, fr, nl, es, au (code pays fourni par la source)

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao et autres

us, fr, ch, gb, nl, cn, no, it, dk, de, pk (code pays fourni par la source)

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao et autres

ABSTRACT Purpose We describe a novel neurobehavioral syndrome of autism spectrum disorder, intellectual disability, and attention deficit/hyperactivity disorder associated with de novo or inherited deleterious variants in members of the RFX family of genes. RFX genes are evolutionarily conserved transcription factors that …

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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Camille Sayou, Pauline Le Tanno, Émilie Tisserant, Ange‐Line Bruel et autres

fr, it, pt, gb, cz, us, jp, ca, nl (code pays fourni par la source)