The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

La fertilisation en pépinière affecte la tolérance au froid et la qualité des plants bouturés d’Eucalyptus globulus Labill

International audienc

Mid-Tertiary macroinvertebrate-rich clasts from the Battye Glacier Formation, Prince Charles Mountains, East Antarctica

Macrofossils discovered in the Battye Glacier Formation (Pagodroma Group) of the Prince Charles Mountains, East Antarctica, provide important insight into marine life of the mid-Tertiary, rarely preserved elsewhere on the continent. Recorded are five species of macroinvertebrates; these are Adamussium n. sp.? cf.colbecki (Smith, 1902) (Bivalvia), Laternula? sp. (Laternulidae), Mytilidae genus and species indeterminate (Bivalvia), Bivalvia genus and species indeterminate, and Polychaeta genus and species indeterminate. Based on stratigraphcal data and faunal composition, the clasts are dated as no younger than Early Miocene. This is one of the oldest reports of Adamussium from Antarctica, previously known from the Late Pliocene to Recent with a possible record in the Late Oligocene-Early Miocene. Palaeoecological data and facies analysis indicate that these taxa inhabited a shallow- to mid-shelf marine environment of normal salinity that was oligotrophic. The substrate was a soft, pebbly and sandy bottom that was sufficiently mobile to sponsor deep burrowing forms