Preparing for Storms in Louisiana Take Home Guide, 2nd Edition (English)

Louisiana is at risk from natural and man-made disasters. Flooding, tropical storms, and hurricanes happen. To stay safe, sometimes you and your family will need to leave home before a storm comes. People in Louisiana need to be ready for emergencies. This is your take home guide. It helps you prepare for storms

Preparing for Storms in Louisiana English/Spanish Flashcards

Louisiana is at risk from natural and man-made disasters. Flooding, tropical storms, and hurricanes happen. To stay safe, sometimes you and your family will need to leave home before a storm comes. People in Louisiana need to be ready for emergencies. These flashcards will help you get prepared

Preparing for Storms in Louisiana Take Home Guide, 2nd Edition (English/Spanish)

Louisiana is at risk from natural and man-made disasters. Flooding, tropical storms, and hurricanes happen. To stay safe, sometimes you and your family will need to leave home before a storm comes. People in Louisiana need to be ready for emergencies. This take home guide will help you get prepared

Diario de la Marina : periódico oficial del apostadero de La Habana: Año XCIV Número 240 - 1926 Agosto 29

Edición de mañan

Diario de la Marina : periódico oficial del apostadero de La Habana: Año XCVII Número 107 - 1929 Abril 17

Louisiana is at risk from natural and man-made disasters. Flooding, tropical storms, and hurricanes happen. To stay safe, sometimes you and your family will need to leave home before a storm comes. People in Louisiana need to be ready for emergencies. This guide will help you get prepared

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants

<i>De Novo</i> Mutations in Protein Kinase Genes <i>CAMK2A</i> and <i>CAMK2B</i> Cause Intellectual Disability

Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function and on neuronal migration. For both CAMK2A and CAMK2B, we identified mutations that decreased or increased CAMK2 auto-phosphorylation at Thr286/Thr287. We further found that all mutations affecting auto-phosphorylation also affected neuronal migration, highlighting the importance of tightly regulated CAMK2 auto-phosphorylation in neuronal function and neurodevelopment. Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathwa