Associate Professor, Pediatrics, University of Iowa College of Medicine

Neurology

Alexander Bassuk works in the field of Neurology. He attended University of Chicago Pritzker School of Medicine. University of Chicago Pritzker School of Medicine is ranked 10 in research and 19 in primary care medicine Alexander G. Bassuk, MD is a published doctor as well. He has 60 publications published. The latest was: The role of Ets transcription factors in the development and function of the mammalian immune system.

Publications

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• Precision Medicine: Personalized Proteomics for the Diagnosis and Treatment of Idiopathic Inflammatory Disease.
• Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase.
• P7C3 Neuroprotective Chemicals Block Axonal Degeneration and Preserve Function after Traumatic Brain Injury.
• prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies.
• Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.
• Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons.
• Defective Motile Cilia in Prickle2-Deficient Mice.
• Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations.
• Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient mice.
• A novel RPGR mutation masquerading as Stargardt disease.
• Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.
• The non-canonical Wnt ligand Wnt5a rescues morphological deficits in Prickle2-deficient hippocampal neurons.
• Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease.
• Prickle1 stunts limb growth through alteration of cell polarity and gene expression.
• Genome-Wide Association Mapping in Dogs Enables Identification of the Homeobox Gene, NKX2-8, as a Genetic Component of Neural Tube Defects in Humans.
• Deletions of 16p11.2 and 19p13.2 in a Family With Intellectual Disability and Generalized Epilepsy.
• Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.
• Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles.
• Presence of Epilepsy-Associated Variants in Large Exome Databases.
• Mechanisms of prickle 1a function in zebrafish Epilepsy and retinal neurogenesis.
• Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.
• Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
• Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
• Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
• HeyL promotes neuronal differentiation of neural progenitor cells.
• Mutations in prickle orthologs cause seizures in flies, mice, and humans.
• Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
• Genome-wide copy number variation in Epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
• Genetic basis of neural tube defects.
• FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
• Novel mutations in VANGL1 in neural tube defects.
• Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
• A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus Epilepsy-ataxia syndrome.
• Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.
• Dual function of Sox1 in telencephalic progenitor cells.
• NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
• T-cell lymphoma presenting with neurologic features in immunocompetent children.
• The genetics of tethered cord syndrome.
• Autosomal dominant occipital cephalocele.
• Systemic lymphoma mimicking acute disseminated encephalomyelitis.
• Acute necrotizing encephalopathy of childhood with radiographic progression over 10 hours.
• Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
• SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
• Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.
• Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
• Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele.
• TERC is not a major gene in human neural tube defects.
• Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
• Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.
• A child with spinal cord AVM presenting with raised intracranial pressure.
• Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.
• A direct physical association between ETS and AP-1 transcription factors in normal human T cells.
• Physical interactions between Ets and NF-kappaB/NFAT proteins play an important role in their cooperative activation of the human immunodeficiency virus enhancer in T ...
• The role of Ets transcription factors in the development and function of the mammalian immune system.
• Expression pattern of the Ets-related transcription factor Elf-1.
• In cis autosomal dominant mutation of Senataxin associated with Tremor/ataxia syndrome.
• SCARB2 mutations in progressive myoclonus Epilepsy (PME) without renal failure.
• Contribution of VANGL2 mutations to isolated neural tube defects.
• Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Schools

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• U Of Chgo Div Of Bio Sci Pritzker Sch Of Med

Conditions Treated

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• Convulsions
• Dystonia
• Epilepsy
• Insomnia
• View All

Doctors Specialties

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• Pediatric Neurology
• Pediatrics
• Neurology

Accepted Insurances

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Education

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• McGaw Medical Center of Northwestern University
• University of Chicago Pritzker School of Medicine

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