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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...
Covid Acts of Kindness
COVID ACTS OF KINDNESS was born out of the global challenge caused by COVID-19. The pandemic caused world-wide lockdowns, economic crises, and loss of lives, but the light of HOPE kept blinking throughout due to the many deeds of kindness. This book is a snapshot of the memories, experiences, and observations of people during this pandemic. Authors: Abolfazl Abdollahi, Fahime Abdyazdan, Ramila Abediazar, Sirus Aghajari, Dr. Mohammad Taghi Ahady, Roya Ahmadzadeh, Hooman Aievani, Homayoon Aievani, Nazanin Akbari Noghabi, Milad Almasian, Mohsen Almasian, Sania Amel Valizadeh, Banafsheh Amiraslani, Morteza Amuei, Zahra Ansari, Samineh Saadat Arabi, Neda Asghari Kollahi, Shaghayegh Ashouri, Marya...
Disorders of Voluntary Muscle
Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Epigenetics in Human Disease
Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight those diseases or conditions for which we have advanced knowledge of epigenetic factors such as cancer, autoimmune disorders and aging as well as those that are yielding exciting breakthroughs in epigenetics such as diabetes, neurobiological disorders and cardiovascular disease. Where applicable, attempts are made to not only detail the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, but also novel epigene...
Superparamagnetic Iron Oxide Nanoparticles
In recent years, the fabrication of nanoparticles and exploration of their properties have attracted the attention of physicists, chemists, biologists and engineers. Interest in nanoparticles arise from the fact that the mechanical, chemical, electrical, optical, magnetic, electro-optical and magneto-optical properties of these particles are different from their bulk properties and depend on the particle size. There are numerous areas where nanoparticulate systems are of scientific and technological interest. This book reviews research on the various components of superparamagnetic iron oxide nanoparticles.
Personalized Epigenetics
Personalized Epigenetics, Second Edition discusses the core translatability of epigenetics to health management of individuals who have unique variations in their epigenetic signatures that can guide both disorder and disease prevention and therapy. Fully updated and revised, this new edition details inter-individual variability in the major epigenetic process in humans consisting of DNA methylation, histone modifications, noncoding RNA, and the diagnostic, prognostic, and therapeutic potential of the field. It also reviews the impact of the environment on epigenetic variations among individuals and the role of pharmacology and drug development in personalized epigenetics. Most importantly, the text covers personalized epigenetics from a disease-oriented perspective, presenting chapters that provide advances in widespread disorders or diseases, including diabetes, cancer, autoimmune disorders, obesity, cardiovascular diseases, neurological disorders, and pain management.
Iron Oxide Nanoparticles for Biomedical Applications
Iron Oxide Nanoparticles for Biomedical Applications: Synthesis, Functionalization and Application begins with several chapters covering the synthesis, stabilization, physico-chemical characterization and functionalization of iron oxide nanoparticles. The second part of the book outlines the various biomedical imaging applications that currently take advantage of the magnetic properties of iron oxide nanoparticles. Brief attention is given to potential iron oxide based therapies, while the final chapter covers nanocytotoxicity, which is a key concern wherever exposure to nanomaterials might occur. This comprehensive book is an essential reference for all those academics and professionals who require thorough knowledge of recent and future developments in the role of iron oxide nanoparticles in biomedicine.
Lipids
For a number of years, we have been teaching a course on the chemical, meta bolic, and nutritional aspects of lipids to graduate and postdoctoral students in the health sciences at the University ofCalifornia, Los Angeles. The course was taught in an "open-ended" manner-that is, after each subject was introduced, a discussion was continued for as long as necessary to explore thoroughly its cur rent status. It became evident that no text was available that could supplement the lectures adequately. This book is an attempt to remedy the deficiency and to treat extensively-although not exhaustively-most aspects of lipids, ranging from their physical and chemical properties, through biochemistry ...
Epi-Informatics
Epi-Informatics: Discovery and Development of Small Molecule Epigenetic Drugs and Probes features multidisciplinary strategies with strong computational approaches that have led to the successful discovery and/or optimization of compounds that act as modulators of epigenetic targets. This book is intended for all those using or wanting to learn more about computational methodologies in epigenetic drug discovery, including molecular modelers, informaticians, pharmaceutical scientists, and medicinal chemists. With a better understanding of different molecular modeling and cheminformatic approaches, readers can incorporate these techniques into their own drug discovery projects that may involve...
Molecular Pathology of Alzheimer's Disease
Alzheimer’s Disease is characterized pathologically by two principal hallmark lesions: the senile plaque and the neurofibrillary tangle. Since the identification of each over 100 years ago, the major protein components have been elucidated. This has led in turn to the elaboration of metabolic cascades involving amyloid-β production in the case of the senile plaque, and phosphorylated-tau protein in the case of the neurofibrillary tangle. The pathogenesis and histogenesis of each have been the source of extensive investigation and some controversy in recent years, as both cascades have been implicated in the pathogenesis of Alzheimer’s Disease, relied upon in the diagnostic criteria for ...
