Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
نویسندگان
چکیده
منابع مشابه
Pediatric Traumatic Brain Injury and Autism: Elucidating Shared Mechanisms
Pediatric traumatic brain injury (TBI) and autism spectrum disorder (ASD) are two serious conditions that affect youth. Recent data, both preclinical and clinical, show that pediatric TBI and ASD share not only similar symptoms but also some of the same biologic mechanisms that cause these symptoms. Prominent symptoms for both disorders include gastrointestinal problems, learning difficulties, ...
متن کاملMolecular mechanisms underlying neurodevelopmental disorders, ADHD and autism.
Neurodevelopmental disorders such as attention deficit hyperactivity disorder and autism represent a significant economic burden, which justify vigorous research to uncover its genetics and developmental clinics for a diagnostic workup. The urgency of addressing attention deficit hyperactivity disorder comorbidities is seen in the chilling fact that attention deficit hyperactivity disorder (ADH...
متن کاملNull Mutations Lacking Substance: Elucidating Pain Mechanisms by Genetic Pharmacology
and Krause, 1990), and the development of high affinity nonpeptide specific neurokinin receptor antagonists (Snider et al., 1991), represented major breakthroughs. Substance P in Sensory Neurons Primary sensory neurons are a heterogeneous group of Massachusetts General Hospital cells, whose main function is to convey information from and Harvard Medical School the periphery to the central nervo...
متن کاملDiscovery of rare mutations in populations: TILLING by sequencing.
Discovery of rare mutations in populations requires methods, such as TILLING (for Targeting Induced Local Lesions in Genomes), for processing and analyzing many individuals in parallel. Previous TILLING protocols employed enzymatic or physical discrimination of heteroduplexed from homoduplexed target DNA. Using mutant populations of rice (Oryza sativa) and wheat (Triticum durum), we developed a...
متن کاملGene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.
Rare copy-number variants (CNVs) are a significant cause of neurodevelopmental disorders. The sequence architecture of the human genome predisposes certain individuals to deletions and duplications within specific genomic regions. While assessment of individuals with different breakpoints has identified causal genes for certain rare CNVs, deriving gene-phenotype correlations for rare CNVs with ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurotherapeutics
سال: 2015
ISSN: 1933-7213,1878-7479
DOI: 10.1007/s13311-015-0363-9