Evidence for differential alternative splicing in blood of young boys with autism spectrum disorders

The Major Reverse Transcriptase-Incompetent Splice Variant of the Human Telomerase Protein Inhibits Telomerase Activity but Protects from Apoptosis

(2013) I. Listerman et al.   CANCER RESEARCH

Autism spectrum disorder in the genetics clinic: a review

(2013) MT Carter et al.   CLINICAL GENETICS

Sox10 Cooperates with the Mediator Subunit 12 during Terminal Differentiation of Myelinating Glia

(2013) M. R. Vogl et al.   JOURNAL OF NEUROSCIENCE

A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the french canadian variant of leigh's syndrome in a common molecular complex

(2013) Vedant Arun et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Non-protein-bound iron and 4-hydroxynonenal protein adducts in classic autism

(2012) Alessandra Pecorelli et al.   BRAIN & DEVELOPMENT

Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

(2012) Mustafa Sahin   CURRENT OPINION IN NEUROBIOLOGY

PTEN signaling in autism spectrum disorders

(2012) Jing Zhou et al.   CURRENT OPINION IN NEUROBIOLOGY

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

(2012) ROMINA ROMANIELLO et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Oxidative stress-related biomarkers in autism: Systematic review and meta-analyses

(2012) Alessandra Frustaci et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mammalian Alteration/Deficiency in Activation 3 (Ada3) Is Essential for Embryonic Development and Cell Cycle Progression

(2012) Shakur Mohibi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Brain Region-Specific Glutathione Redox Imbalance in Autism

(2012) Abha Chauhan et al.   NEUROCHEMICAL RESEARCH

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

(2012) H. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Brain region-specific altered expression and association of mitochondria-related genes in autism

(2012) Ayyappan Anitha et al.   Molecular Autism

Evidence of oxidative damage and inflammation associated with low glutathione redox status in the autism brain

(2012) S Rose et al.   Translational Psychiatry

A novel X-linked disorder with developmental delay and autistic features

(2011) Namik Kaya et al.   ANNALS OF NEUROLOGY

The role of immune dysfunction in the pathophysiology of autism

(2011) Charity Onore et al.   BRAIN BEHAVIOR AND IMMUNITY

RNA splicing: disease and therapy

(2011) A. G. L. Douglas et al.   Briefings in Functional Genomics

Crystal structure of the N-terminal region of human Ash2L shows a winged-helix motif involved in DNA binding

(2011) Yong Chen et al.   EMBO REPORTS

Characterization and expression analysis in the developing embryonic brain of the porcine FET family: FUS, EWS, and TAF15

(2011) Jenny Blechingberg et al.   GENE

Distribution of SRPK1 in human brain

(2011) D.G. Mytilinaios et al.   JOURNAL OF CHEMICAL NEUROANATOMY

Reversible SUMOylation of TBL1-TBLR1 Regulates β-Catenin-Mediated Wnt Signaling

(2011) Hyo-Kyoung Choi et al.   MOLECULAR CELL

The Mitochondrial Aspartate/Glutamate Carrier AGC1 and Calcium Homeostasis: Physiological Links and Abnormalities in Autism

(2011) Valerio Napolioni et al.   MOLECULAR NEUROBIOLOGY

QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders

(2011) A T-H Lu et al.   MOLECULAR PSYCHIATRY

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

(2011) D A Rossignol et al.   MOLECULAR PSYCHIATRY

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Mitochondrial Dysfunction Can Connect the Diverse Medical Symptoms Associated With Autism Spectrum Disorders

(2011) RICHARD E. FRYE et al.   PEDIATRIC RESEARCH

The Transcriptional Mediator Component Med12 Is Required for Hindbrain Boundary Formation

(2011) Sung-Kook Hong et al.   PLoS One

Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders

(2011) C. W. Nordahl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetics of autism spectrum disorders

(2011) Daniel H. Geschwind   TRENDS IN COGNITIVE SCIENCES

Gelsolin Levels are Increased in the Brain as a Function of Age During Normal Development in Children That are Further Increased in Down Syndrome

(2010) Lina Ji et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?

(2010) Luigi Palmieri et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Microglial Activation and Increased Microglial Density Observed in the Dorsolateral Prefrontal Cortex in Autism

(2010) John T. Morgan et al.   BIOLOGICAL PSYCHIATRY

Evaluation of Oxidative Stress in Autism: Defective Antioxidant Enzymes and Increased Lipid Peroxidation

(2010) Nagwa A. Meguid et al.   BIOLOGICAL TRACE ELEMENT RESEARCH

Mitochondrial Dysfunction in Autism

(2010) Cecilia Giulivi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Associations of impaired behaviors with elevated plasma chemokines in autism spectrum disorders

(2010) Paul Ashwood et al.   JOURNAL OF NEUROIMMUNOLOGY

Longitudinal Magnetic Resonance Imaging Study of Cortical Development through Early Childhood in Autism

(2010) C. M. Schumann et al.   JOURNAL OF NEUROSCIENCE

Brief naturalistic stress induces an alternative splice variant of SMG-1 lacking exon 63 in peripheral leukocytes

(2010) Ken Kurokawa et al.   NEUROSCIENCE LETTERS

Immune dysfunction in autism: A pathway to treatment

(2010) Milo Careaga et al.   Neurotherapeutics

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A

(2010) Guia Guffanti et al.   PSYCHIATRY RESEARCH

Differential monocyte responses to TLR ligands in children with autism spectrum disorders

(2009) Amanda M. Enstrom et al.   BRAIN BEHAVIOR AND IMMUNITY

DNA Damage Regulates Alternative Splicing through Inhibition of RNA Polymerase II Elongation

(2009) Manuel J. Muñoz et al.   CELL

Genetic advances in autism: heterogeneity and convergence on shared pathways

(2009) Brent R Bill et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Altered gene expression and function of peripheral blood natural killer cells in children with autism

(2008) Amanda M. Enstrom et al.   BRAIN BEHAVIOR AND IMMUNITY

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

Autism: Many Genes, Common Pathways?

(2008) Daniel H. Geschwind   CELL

Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1

(2008) L Palmieri et al.   MOLECULAR PSYCHIATRY

A feedback regulatory loop between methyltransferase PRMT1 and orphan receptor TR3

(2008) Na-zi Lei et al.   NUCLEIC ACIDS RESEARCH

A Potential Link between Alternative Splicing of theNBS1Gene and DNA Damage/Environmental Stress

(2008) Ken Takai et al.   RADIATION RESEARCH

Gene expression changes in children with autism

(2007) Jeffrey P. Gregg et al.   GENOMICS