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MAB21L1 Loss of Function Causes a Syndromic Neurodevelopmental Disorder with Distinctive Cerebellar, Ocular, Craniofacial and Genital Features (COFG Syndrome)
Abstract: Background Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. Objective A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underl...
IFT74 Variants Cause Skeletal Ciliopathy and Motile Cilia Defects in Mice and Humans
Abstract: Motile and non-motile cilia play critical roles in mammalian development and health. These organelles are composed of a 1000 or more unique proteins, but their assembly depends entirely on proteins synthesized in the cell body and transported into the cilium by intraflagellar transport (IFT). In mammals, malfunction of non-motile cilia due to IFT dysfunction results in complex developmental phenotypes that affect most organs. In contrast, disruption of motile cilia function causes subfertility, disruption of the left-right body axis, and recurrent airway infections with progressive lung damage. In this work, we characterize allele specific phenotypes resulting from IFT74 dysfunctio...
Parental Whole-exome Sequencing Enables Sialidosis Type II Diagnosis Due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child
Abstract: Introduction Monogenetic renal diseases, including recessively inherited nephrotic syndromes, represent a significant health burden despite being rare conditions. Precise diagnosis, including identification of the underlying molecular cause, is especially difficult in low-income countries and/or if affected individuals are unavailable for biochemical testing. Whole-exome sequencing (WES) has opened up novel diagnostic perspectives for these settings. However, sometimes the DNA of affected individuals is not suitable for WES due to low amounts or degradation. Methods We report on the use of parental WES with implementation of specific stepwise variant filtering to identify the under...
Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome with Impaired Endocytic Function
Abstract: Next-generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes. However, functional workup is essential for precise phenotype definition and to understand the underlying disease mechanisms. Using whole exome (WES) and whole genome sequencing (WGS) in four independent families with hypotonia, neurodevelopmental delay, facial dysmorphism, loss of white matter, and thinning of the corpus callosum, we identified four previously unreported homozygous truncating PPP1R21 alleles: c.347delT p.(Ile116Lysfs*25), c.2170_2171insGGTA p.(Ile724Argfs*8), c.1607dupT p.(Leu536Phefs*7), c.2063delA p.(Lys688Serfs...
Policy Implications of Autonomous Vehicles
Policy Implications of Autonomous Vehicles, Volume Five in the Advances in Transport Policy and Planning series systematically reviews policy relevant implications of AVs and the associated possible policy responses, and discusses future avenues for policy making and research. It comprises 13 chapters discussing: (a) short-term implications of AVs for traffic flow, human-automated bus systems interaction, cyber-security and safety, cybersecurity certification and auditing, non-commuting journeys; (b) long-term implications of AVs for carbon dioxide (CO2) emissions and energy, health and well-being, data protection, ethics, governance; (c) implications of AVs for the maritime industry and urban deliveries; and (d) overall synthesis and conclusions. Provides the authority and expertise of leading contributors from an international board of authors Presents the latest release in the Advances in Transport Policy and Planning series Updated release includes the latest information on the policy implications of autonomous vehicles
Remote Sensing for Archaeology and Cultural Landscapes
This book investigates the added value that satellite technologies and remote sensing could provide for a more sustainable mapping, monitoring and management of heritage sites, be it for purposes of regular maintenance or for risk mitigation in case of natural or man-caused hazards. One of the major goals of this book is to provide a clear overview on policy perspectives, regarding both space policy as well as heritage policy, and to provide possible suggestions for common ground of these two fields, in Europe and around the world. Readers will develop a good understanding of cutting-edge applications of remote sensing and geographic information science, and the challenges that affect heritage maintenance and protection. Particular attention is given to Earth observation and remote sensing techniques applied in different locations. This book brings together innovative technologies, concrete applications and policy perspectives that can lead to a more complete vision of cultural heritage as a resource for future development of our society as a whole.
New Results in Numerical and Experimental Fluid Mechanics XII
This book gathers contributions to the 21st biannual symposium of the German Aerospace Aerodynamics Association (STAB) and the German Society for Aeronautics and Astronautics (DGLR). The individual chapters reflect ongoing research conducted by the STAB members in the field of numerical and experimental fluid mechanics and aerodynamics, mainly for (but not limited to) aerospace applications, and cover both nationally and EC-funded projects. Special emphasis is given to collaborative research projects conducted by German scientists and engineers from universities, research-establishments and industries. By addressing a number of cutting-edge applications, together with the relevant physical and mathematics fundamentals, the book provides readers with a comprehensive overview of the current research work in the field. The book’s primary emphasis is on aerodynamic research in aeronautics and astronautics, and in ground transportation and energy as well.
