Mental Retardation and Development Disabilities Research

Summary

Principal Investigator: M Yudkoff
Affiliation: The Children's Hospital of Philadelphia
Country: USA
Abstract: The proposed Mental Retardation and Developmental Disabilities Research Center (MRDDRC) was established in 1990 and renewed in 1995 and 1999. It represents the collaboration of the Children's Hospital of Philadelphia and the University of Pennsylvania (Penn). In this renewal application, funds are requested to support five core facilities and New Program Development projects. The cores are: (A) Administrative Core, which provides overall management of the MRDDRC. It administers all educational programs, lecture series, and the New Program Development projects. It also oversees the proposed Mid-Atlantic Research Consortium, a new venture that would encourage more joint research at the MRDDRCs at Penn, Johns Hopkins, and Children's National Medical Center. (B) Biostatistics and Bioinformatics, which provides consultation with regard to study design, statistical analysis, and database design. A new emphasis is bioinformatics, which is crucial to the interpretation of data culled from chip array analysis of DNA. (C) Molecular Genetics, which provides a centralized facility for DNA sequencing, fluorescent fragment analysis, mutation detection with cosmig contigs, screen of YAC libraries, quantitative PCR analysis, gene mapping, cell culture, etc. (D) Analytical Neurochemistry and Spectroscopy, which provides expert and support with regard to biochemical analyses. The core facilitates a wide spectrum of neurochemical analysis, from brain tissue to living cells in vitro to the intact organism. It combines mass spectrometric analysis of stable isotopes, HPLC of biogenic amines and amino acids, positron emission tomography (PET) services and fluorescent assays in live cells. A new component is the proposed Proteomics Subcore that facilitates characterization of proteins of neurochemical interest. (E) Cellular Neuroscience, which provides support and advice with regard to confocal microscopy, cytoarchitectural analysis, and cell culture. A new component is the availability of techniques for optically imaging circuit function in slice preparations using voltage sensitive dyes. Finally, the core proposes to provide users with expertise for the development and preservation of mouse models (transgenic and knock-outs). These units service more than 96 NIH -funded projects with an aggregate annual value of more than $12 million (greater than $1.5 million from NICHD). The Center includes more than 60 Penn faculty members representing 15 departments at the School of Medicine, School of Veterinary Medicine, The School of Nursing, the Wistar Institute, and the College of Arts and Sciences.
Funding Period: 1997-08-01 - 2010-06-30
more information: NIH RePORT

Top Publications

  1. ncbi Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy
    Tracy A Glauser
    Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children s Hospital, 3333 Burnet Ave, MLC 2015, Cincinnati, OH 45229, USA
    N Engl J Med 362:790-9. 2010
  2. ncbi MicroRNAs: biogenesis and molecular functions
    Xuhang Liu
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Brain Pathol 18:113-21. 2008
  3. ncbi MicroRNAs: biology and roles in neurodegeneration and brain tumours. Introduction and historical background
    Zissimos Mourelatos
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Brain Pathol 18:110-2. 2008
  4. ncbi Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays
    Marilyn M Li
    Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana 70112, USA
    Am J Med Genet A 146:368-75. 2008
  5. ncbi Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans
    M J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
    Mol Genet Metab 93:388-97. 2008
  6. ncbi Sizn1 is a novel protein that functions as a transcriptional coactivator of bone morphogenic protein signaling
    Ginam Cho
    Children s Hospital of Philadelphia, ARC 516h, 3400 Civic Center Blvd, Philadelphia, PA 19104, USA
    Mol Cell Biol 28:1565-72. 2008
  7. ncbi Neurocognitive correlates of problem behavior in environmentally at-risk adolescents
    SABRINA FORD
    Department of Psychology, The Center for Cognitive Neuroscience, The University of Pennsylvania School of Medicine and The Children s Hospital of Philadelphia, PA 19104, USA
    J Dev Behav Pediatr 28:376-85. 2007
  8. ncbi Altered resting cerebral blood flow in adolescents with in utero cocaine exposure revealed by perfusion functional MRI
    Hengyi Rao
    Department of Radiology and Neurology, Center for Functional Neuroimaging, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Pediatrics 120:e1245-54. 2007
  9. ncbi A prospective, randomized, multicenter trial of amnioreduction vs selective fetoscopic laser photocoagulation for the treatment of severe twin-twin transfusion syndrome
    Timothy M Crombleholme
    Fetal Care Center of Cincinnati, Division of Pediatric General, Thoracic, and Fetal Surgery, Cincinnati Children s Hospital, MLC 2023, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Am J Obstet Gynecol 197:396.e1-9. 2007
  10. ncbi Constitutive endocytosis and recycling of the neuronal glutamate transporter, excitatory amino acid carrier 1
    Marco I Gonzalez
    Departments of Pediatrics and Pharmacology, Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Neurochem 103:1917-31. 2007

Scientific Experts

Detail Information

Publications62

  1. ncbi Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy
    Tracy A Glauser
    Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children s Hospital, 3333 Burnet Ave, MLC 2015, Cincinnati, OH 45229, USA
    N Engl J Med 362:790-9. 2010
    ..Childhood absence epilepsy, the most common pediatric epilepsy syndrome, is usually treated with ethosuximide, valproic acid, or lamotrigine. The most efficacious and tolerable initial empirical treatment has not been defined...
  2. ncbi MicroRNAs: biogenesis and molecular functions
    Xuhang Liu
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Brain Pathol 18:113-21. 2008
    ..In this review, we will discuss our current understanding of how miRNA and siRNAs are generated and how they function to silence gene expression, focusing on animal and, in particular, mammalian miRNAs...
  3. ncbi MicroRNAs: biology and roles in neurodegeneration and brain tumours. Introduction and historical background
    Zissimos Mourelatos
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Brain Pathol 18:110-2. 2008
  4. ncbi Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays
    Marilyn M Li
    Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana 70112, USA
    Am J Med Genet A 146:368-75. 2008
    ..Both approaches can assist in the elucidation of the etiology of unexplained phenotypic differences in cases such as this one...
  5. ncbi Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans
    M J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
    Mol Genet Metab 93:388-97. 2008
    ..Such knowledge may enable the development of a metabolomic profiling diagnostic tool applicable to human mitochondrial disease...
  6. ncbi Sizn1 is a novel protein that functions as a transcriptional coactivator of bone morphogenic protein signaling
    Ginam Cho
    Children s Hospital of Philadelphia, ARC 516h, 3400 Civic Center Blvd, Philadelphia, PA 19104, USA
    Mol Cell Biol 28:1565-72. 2008
    ..These data indicate that Sizn1 is a positive modulator of BMP signaling and provide further insight into how BMP signaling can be modulated in neuronal progenitor subsets to influence cell-type-specific gene expression and development...
  7. ncbi Neurocognitive correlates of problem behavior in environmentally at-risk adolescents
    SABRINA FORD
    Department of Psychology, The Center for Cognitive Neuroscience, The University of Pennsylvania School of Medicine and The Children s Hospital of Philadelphia, PA 19104, USA
    J Dev Behav Pediatr 28:376-85. 2007
    ..This study prospectively examines the correlation between neurocognitive (NC) functioning and problem behavior in early adolescence...
  8. ncbi Altered resting cerebral blood flow in adolescents with in utero cocaine exposure revealed by perfusion functional MRI
    Hengyi Rao
    Department of Radiology and Neurology, Center for Functional Neuroimaging, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Pediatrics 120:e1245-54. 2007
    ....
  9. ncbi A prospective, randomized, multicenter trial of amnioreduction vs selective fetoscopic laser photocoagulation for the treatment of severe twin-twin transfusion syndrome
    Timothy M Crombleholme
    Fetal Care Center of Cincinnati, Division of Pediatric General, Thoracic, and Fetal Surgery, Cincinnati Children s Hospital, MLC 2023, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Am J Obstet Gynecol 197:396.e1-9. 2007
    ..The objective of the study was to examine the effect of selective fetoscopic laser photocoagulation (SFLP) vs serial amnioreduction (AR) on perinatal mortality in severe twin-twin transfusion syndrome (TTTS)...
  10. ncbi Constitutive endocytosis and recycling of the neuronal glutamate transporter, excitatory amino acid carrier 1
    Marco I Gonzalez
    Departments of Pediatrics and Pharmacology, Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Neurochem 103:1917-31. 2007
    ..As one defines the machinery required for constitutive trafficking of EAAC1, it may be possible to determine how intracellular signals regulate EAAC1 cell surface expression...
  11. ncbi A novel monoclonal antibody against human Argonaute proteins reveals unexpected characteristics of miRNAs in human blood cells
    Peter T Nelson
    Department of Pathology, University of Kentucky, Lexington, KY 40536, USA
    RNA 13:1787-92. 2007
    ..We report the characterization of 2A8 and its use to clone miRNAs from human brain and from preparations of human polymorphonuclear leukocytes (neutrophils), which revealed a prevalent miRNA with unusual features...
  12. ncbi Surfactant function and composition in premature infants treated with inhaled nitric oxide
    Philip L Ballard
    Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94118, USA
    Pediatrics 120:346-53. 2007
    ..We hypothesized that inhaled nitric oxide treatment of premature infants at risk for bronchopulmonary dysplasia would not adversely affect endogenous surfactant function or composition...
  13. ncbi The mouse homolog of HEN1 is a potential methylase for Piwi-interacting RNAs
    Yohei Kirino
    RNA 13:1397-401. 2007
    ..These findings provide insight into the biogenesis of piRNAs...
  14. ncbi Functional magnetic resonance imaging and working memory in adolescents with gestational cocaine exposure
    Hallam Hurt
    Department of Neonatology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    J Pediatr 152:371-7. 2008
    ..To assess the effect of gestational cocaine exposure on the prefrontal cortex (PFC) with functional magnetic resonance imaging (fMRI)...
  15. ncbi Plasma biomarkers of oxidative stress: relationship to lung disease and inhaled nitric oxide therapy in premature infants
    Philip L Ballard
    Department of Pediatrics, University of California, San Francisco, California 94118, USA
    Pediatrics 121:555-61. 2008
    ..However, there has been no information regarding possible effects of this therapy on oxidative stress. We hypothesized that inhaled nitric oxide therapy would not influence concentrations of plasma biomarkers of oxidative stress...
  16. ncbi Elimination of KATP channels in mouse islets results in elevated [U-13C]glucose metabolism, glutaminolysis, and pyruvate cycling but a decreased gamma-aminobutyric acid shunt
    Changhong Li
    Division of Endocrinology, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 283:17238-49. 2008
    ....
  17. ncbi Accounting for multiple births in neonatal and perinatal trials: systematic review and case study
    Anna Maria Hibbs
    Department of Pediatrics, Case Western Reserve University and Rainbow Babies and Children s Hospital, 11100 Euclid Avenue, Suite 3100, Cleveland, OH 44106
    J Pediatr 156:202-8. 2010
    ..To determine the prevalence in the neonatal literature of statistical approaches accounting for the unique clustering patterns of multiple births and to explore the sensitivity of an actual trial to several analytic approaches to multiples...
  18. ncbi Economic evaluation of inhaled nitric oxide in preterm infants undergoing mechanical ventilation
    John A F Zupancic
    Division of Newborn Medicine, Harvard Medical School, Boston, Massachusetts, USA
    Pediatrics 124:1325-32. 2009
    ..However, the price for the drug may be a barrier to widespread use. We sought to estimate the incremental cost-effectiveness of iNO therapy to prevent BPD in infants of <1250 g birth weight...
  19. ncbi Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines
    Alasdair G W Hunter
    Greenwood Genetic Center, Greenwood, South Carolina
    Am J Med Genet A 149:2181-92. 2009
    ....
  20. ncbi Seizures increase cell proliferation in the dentate gyrus by shortening progenitor cell-cycle length
    Florence P Varodayan
    Division of Neurology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Epilepsia 50:2638-47. 2009
    ..Molecular mechanisms that regulate normal and pathologic cell birth in the dentate gyrus are poorly understood...
  21. ncbi Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis
    Nicholas Ah Mew
    Research Center for Genetic Medicine, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    Mol Genet Metab 98:325-30. 2009
    ..No untoward side effects were observed. The data indicate that treatment with NCG stimulates ureagenesis and could be useful in clinical settings of acute hyperammonemia of various etiologies...
  22. ncbi Cerebral hemodynamics in preterm infants during positional intervention measured with diffuse correlation spectroscopy and transcranial Doppler ultrasound
    Erin M Buckley
    Department of Physics and Astronomy, University of Pennsylvania, 209 S 33rd St, Philadelphia, PA 19104, USA
    Opt Express 17:12571-81. 2009
    ....
  23. ncbi Executive cognitive functions and impulsivity as correlates of risk taking and problem behavior in preadolescents
    Daniel Romer
    Adolescent Risk Communication Institute, Annenberg Public Policy Center, University of Pennsylvania, PA, USA
    Neuropsychologia 47:2916-26. 2009
    ....
  24. ncbi Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
    Eric Marsh
    Abramson Research Center, Children s Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA
    Brain 132:1563-76. 2009
    ..Given the frequency of ARX mutations in patients with infantile spasms and related disorders, our data unveil a new model for further understanding the pathogenesis of these disorders...
  25. ncbi Ketosis and brain handling of glutamate, glutamine, and GABA
    Marc Yudkoff
    Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Epilepsia 49:73-5. 2008
    ..This allows for: (a) more efficient removal of glutamate, the most important excitatory neurotransmitter; and (b) more efficient conversion of glutamine to GABA, the major inhibitory neurotransmitter...
  26. ncbi Myc regulates a transcriptional program that stimulates mitochondrial glutaminolysis and leads to glutamine addiction
    David R Wise
    Department of Cancer Biology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104 6160, USA
    Proc Natl Acad Sci U S A 105:18782-7. 2008
    ..These data suggest that oncogenic levels of Myc induce a transcriptional program that promotes glutaminolysis and triggers cellular addiction to glutamine as a bioenergetic substrate...
  27. ncbi Identification of Arx transcriptional targets in the developing basal forebrain
    Carl T Fulp
    Neuroscience Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Hum Mol Genet 17:3740-60. 2008
    ....
  28. ncbi Gambling initiation in preadolescents
    Hallam Hurt
    Neonatology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Adolesc Health 43:91-3. 2008
    ..Gamblers were more likely to be white, have tried alcohol, have positive affect toward gambling, and have friends who gamble...
  29. ncbi One-year respiratory outcomes of preterm infants enrolled in the Nitric Oxide (to prevent) Chronic Lung Disease trial
    Anna Maria Hibbs
    Department of Pediatrics, Rainbow Babies and Children s Hospital, Case Western Reserve University, Cleveland, OH 44106 6010, USA
    J Pediatr 153:525-9. 2008
    ..To identify whether inhaled nitric oxide treatment decreased indicators of long-term pulmonary morbidities after discharge from the neonatal intensive care unit...
  30. ncbi Pax6-/- mice have a cell nonautonomous defect in nonradial interneuron migration
    Pallavi P Gopal
    Neuroscience Program, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Cereb Cortex 18:752-62. 2008
    ..Further, our data indicate that the known axonal disorganization in Sey-/- mice contributes to the observed reduced distance of NRCM...
  31. ncbi An mRNA m7G cap binding-like motif within human Ago2 represses translation
    Marianthi Kiriakidou
    Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Cell 129:1141-51. 2007
    ..We propose that Ago2 represses the initiation of mRNA translation by binding to the m(7)G cap of mRNA targets, thus likely precluding the recruitment of eIF4E...
  32. ncbi Behavioral and neurochemical alterations in mice lacking the RNA-binding protein translin
    Joel M Stein
    Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 26:2184-96. 2006
    ..Our results in mice indicate that mutations in translin may contribute to fragile X-like syndromes, mental retardation, attention deficit hyperactivity disorder, epilepsy, and autism spectrum disorders in humans...
  33. ncbi RAKE and LNA-ISH reveal microRNA expression and localization in archival human brain
    Peter T Nelson
    Division of Neuropathology and Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, 605A Stellar-Chance Bldg, 421 Curie Blvd, Philadelphia, PA 19104, USA
    RNA 12:187-91. 2006
    ..The ability to profile miRNAs from archival tissues at the tissue level, by RAKE microarrays, and at the cellular level by LNA-ISH, will accelerate studies of miRNAs in human diseases...
  34. ncbi A human, ATP-independent, RISC assembly machine fueled by pre-miRNA
    Elisavet Maniataki
    Department of Pathology, Division of Neuropathology, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
    Genes Dev 19:2979-90. 2005
    ..We suggest that the miRLC couples the processing of the pre-miRNA substrate to the unwinding of the product and that after loading of the mature miRNA to Ago2, the miRLC disassembles and the miRNP is released...
  35. ncbi Fasting versus gradual initiation of the ketogenic diet: a prospective, randomized clinical trial of efficacy
    A G Christina Bergqvist
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Epilepsia 46:1810-9. 2005
    ..The purpose of the study was to compare the efficacy of a gradual KD initiation with the standard KD initiation preceded by a 24- to 48-h fast...
  36. ncbi Genotypically defined lissencephalies show distinct pathologies
    Mark S Forman
    Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA, and Department of Neurology, Radcliffe Infirmary, Oxford, UK
    J Neuropathol Exp Neurol 64:847-57. 2005
    ..Based on these data, a new classification for lissencephaly is proposed that incorporates both pathologic and genetic findings...
  37. ncbi Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates
    Hidehito Inagaki
    Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1 98 Dengakugakubo, Kutsukake, Toyoake, Aichi 470 1192, Japan
    Hum Mutat 26:332-42. 2005
    ..Although such palindromic regions are usually unstable and disappear rapidly due to deletion, the 17PATRR in the NF1 gene was stably conserved during evolution for reasons that are still unknown...
  38. ncbi Brain amino acid requirements and toxicity: the example of leucine
    Marc Yudkoff
    Children s Hospital of Philadelphia, Division of Child Development, Rehabilitation and Metabolic Disease, Department of Pediatrics, University of Pennsylvania School of Medicine, 19104, USA
    J Nutr 135:1531S-8S. 2005
    ..The result is a compromise of energy metabolism because of a failure of the malate-aspartate shuttle and a diminished rate of protein synthesis...
  39. ncbi Neuronal migration in developmental disorders
    Matthew F McManus
    Neuroscience Program, University of Pennsylvania School of Medicine, USA
    J Child Neurol 20:280-6. 2005
    ..Herein we discuss the role of normal non-radial cell migration in cortical development, as well as how perturbations in both radial and nonradial migration result in developmental anomalies...
  40. ncbi Effect of myristoylated alanine-rich C kinase substrate (MARCKS) overexpression on hippocampus-dependent learning and hippocampal synaptic plasticity in MARCKS transgenic mice
    Robert K McNamara
    Department of Psychiatry, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267 0559, USA
    Hippocampus 15:675-83. 2005
    ..Collectively, these results indicate that elevations in MARCKS expression are detrimental to specific aspects of hippocampal function...
  41. ncbi Response of brain amino acid metabolism to ketosis
    Marc Yudkoff
    Department of Pediatrics, University of Pennsylvania School of Medicine, Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Neurochem Int 47:119-28. 2005
    ....
  42. ncbi Altered BMP signaling disrupts chick diencephalic development
    Youngshin Lim
    Department of Biology, University of Pennsylvania, Philadelphia, PA, USA
    Mech Dev 122:603-20. 2005
    ..In summary, our data indicate that while not necessary, BMP signaling via Bmpr1a and Bmpr1b, is sufficient to modify nuclear organization in the chick diencephalon...
  43. ncbi Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study
    Tony J Simon
    Children s Hospital of Philadelphia, 3535 Market Street, Room 1425, Philadelphia, PA 19104, USA
    Neuroimage 25:169-80. 2005
    ....
  44. ncbi Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome
    Tony J Simon
    University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
    Cortex 41:145-55. 2005
    ..Instead, our findings are supportive of the hypothesis that visuospatial and numerical deficits in children with the chromosome 22q11.2 deletion are due, at least in part, to posterior parietal dysfunction...
  45. ncbi Short-term fasting, seizure control and brain amino acid metabolism
    Marc Yudkoff
    Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, 19104, USA
    Neurochem Int 48:650-6. 2006
    ....
  46. ncbi A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon
    Zongming Pan
    Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 26:2599-613. 2006
    ..This includes the historical period when myelin also evolved...
  47. ncbi Myristoylated alanine rich C kinase substrate (MARCKS) heterozygous mutant mice exhibit deficits in hippocampal mossy fiber-CA3 long-term potentiation
    Rifat J Hussain
    Department of Psychiatry, University of Pennsylvania School of Medicine, Clinical Research Building, Philadelphia, Pennsylvania, USA
    Hippocampus 16:495-503. 2006
    ..The implications of these findings for the role of the mossy fiber-CA3 pathway in hippocampus-dependent learning processes are discussed...
  48. ncbi Inflammatory markers and mediators in tracheal fluid of premature infants treated with inhaled nitric oxide
    William E Truog
    Department of Pediatrics, Section of Neonatology, Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, 2401 Gillham Rd, Kansas City, MO 64108, USA
    Pediatrics 119:670-8. 2007
    ..We investigated relationships between respiratory severity scores and airway concentrations of inflammatory markers/mediators...
  49. ncbi Mouse Piwi-interacting RNAs are 2'-O-methylated at their 3' termini
    Yohei Kirino
    Department of Pathology and Laboratory Medicine, Division of Neuropathology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Struct Mol Biol 14:347-8. 2007
    ..Here we report that the 3' termini of piRNAs are 2'-O-methylated; this modification may have important implications for the biogenesis and function of piRNAs...
  50. ncbi Relationship of dietary intake to gastrointestinal symptoms in children with autistic spectrum disorders
    Susan E Levy
    Division of Child Development and Rehabilitation, Children s Seashore House of The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Biol Psychiatry 61:492-7. 2007
    ..The purpose of this study was to 1) describe dietary intake of a cohort of children with ASD compared with normative data and 2) determine whether GI symptoms and stool consistency are related to dietary intake...
  51. ncbi Chronically increased Gsalpha signaling disrupts associative and spatial learning
    Rusiko Bourtchouladze
    Center for Neurobiology and Behavior and Howard Hughes Medical Institute, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    Learn Mem 13:745-52. 2006
    ..The learning deficits observed in these transgenic mice suggest that associative and spatial learning requires regulated Gsalpha protein signaling, much as does olfactory learning in Drosophila...
  52. ncbi Intracellular and trans-synaptic regulation of glutamatergic synaptogenesis by EphB receptors
    Matthew S Kayser
    Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 26:12152-64. 2006
    ..These results demonstrate that EphB2 acts to control the organization of specific classes of mature glutamatergic synapses...
  53. ncbi Inhaled nitric oxide in preterm infants undergoing mechanical ventilation
    Roberta A Ballard
    Children s Hospital of Philadelphia, Philadelphia 19104, USA
    N Engl J Med 355:343-53. 2006
    ..In animal models, inhaled nitric oxide improves both gas exchange and lung structural development, but the use of this therapy in infants at risk for bronchopulmonary dysplasia is controversial...
  54. ncbi Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome
    Deborah A Driscoll
    Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, USA
    Cleft Palate Craniofac J 43:435-41. 2006
    ..2 deletion syndrome may be related to personal characteristics such as gender and race as well as variation within genes that reside outside of the 22q11.2 region...
  55. ncbi MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q
    J A S Vorstman
    Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Hum Mutat 27:814-21. 2006
    ..2 region, making it a fast and economic alternative to currently used methods. The current study provides valuable and detailed information on the characteristics of this novel method...
  56. ncbi Chronic ibuprofen administration worsens cognitive outcome following traumatic brain injury in rats
    Kevin D Browne
    Department of Neurosurgery, Center for Brain Injury and Repair, University of Pennsylvania, Philadelphia, PA 19104, USA
    Exp Neurol 201:301-7. 2006
    ..These data may have important implications for TBI patients who are often prescribed NSAIDs for chronic pain...
  57. ncbi Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH
    Jia Huang
    Clin Genet 69:367-9. 2006
  58. ncbi Analysis of non-radial interneuron migration dynamics and its disruption in Lis1+/- mice
    Ilya M Nasrallah
    Neuroscience Program, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
    J Comp Neurol 496:847-58. 2006
    ..These data provide insight into NRCM and practical methods for future studies on the role(s) of specific genes in interneuron migration...
  59. ncbi Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays
    Jeffrey E Ming
    Division of Human Genetics, Stokes Research Institute, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 27:467-73. 2006
    ..Their higher resolution and commercial availability make this type of microarray highly desirable for application in the diagnosis of patients with multiple congenital defects...
  60. ncbi Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice
    Changhong Li
    Division of Endocrinology, The Children's Hospital of Philadelphia and Diabetes Center, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 281:15064-72. 2006
    ..This study suggests that GDH functions predominantly in the direction of glutamate oxidation rather than glutamate synthesis in mouse islets and that this flux is tightly controlled by glucose...
  61. ncbi Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome
    J D Hoffman
    Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Med Genet 42:49-53. 2005
    ..CONCLUSIONS: 8p22-p23.1 duplication may not be a common mechanism for Kabuki syndrome. Another genetic abnormality may be responsible for the aetiology in many patients...