相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)
Stefka Mincheva-Tasheva et al.
MOLECULAR NEUROBIOLOGY (2021)
Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder
Naosuke Hoshina et al.
SCIENCE (2021)
Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis
Rossella Borghi et al.
JOURNAL OF CLINICAL MEDICINE (2021)
Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy
Lynette G. Sadleir et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2020)
Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 Deficiency Disorder
I. Barbiero et al.
NEUROPHARMACOLOGY (2020)
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
Kristy L. Kolc et al.
TRANSLATIONAL PSYCHIATRY (2020)
Characterization of seizure susceptibility inPcdh19mice
Jennifer Rakotomamonjy et al.
EPILEPSIA (2020)
The Epilepsy-Related Protein PCDH19 Regulates Tonic Inhibition, GABAAR Kinetics, and the Intrinsic Excitability of Hippocampal Neurons
Giulia M. Serratto et al.
MOLECULAR NEUROBIOLOGY (2020)
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity
Kristy L. Kolc et al.
MOLECULAR PSYCHIATRY (2019)
AKR1C3 (type 5 17β-hydroxysteroid dehydrogenase/prostaglandin F synthase): Roles in malignancy and endocrine disorders
Trevor M. Penning
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2019)
Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy
Danique R. M. Vlaskamp et al.
EPILEPSIA (2019)
Management of epilepsy in women
Linda J. Stephen et al.
LANCET NEUROLOGY (2019)
miR-99b-3p promotes hepatocellular carcinoma metastasis and proliferation by targeting protocadherin 19
Xiaobin Yao et al.
GENE (2019)
Cortisol levels and seizures in adults with epilepsy: A systematic review
Irene Cano-Lopez et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2019)
TBR2 coordinates neurogenesis expansion and precise microcircuit organization via Protocadherin 19 in the mammalian cortex
Xiaohui Lv et al.
NATURE COMMUNICATIONS (2019)
Autism-like behaviors in male mice with a Pcdh19 deletion
Jisoo Lim et al.
MOLECULAR BRAIN (2019)
Simultaneous measurement of 18 steroids in human and mouse serum by liquid chromatography-mass spectrometry without derivatization to profile the classical and alternate pathways of androgen synthesis and metabolism
Reena Desai et al.
CLINICAL MASS SPECTROMETRY (2019)
The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons
Silvia Bassani et al.
HUMAN MOLECULAR GENETICS (2018)
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy
Daniel T. Pederick et al.
NEURON (2018)
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study
Marina Trivisano et al.
EPILEPSIA (2018)
Investigational small molecules in phase II clinical trials for the treatment of epilepsy
Marco Greco et al.
EXPERT OPINION ON INVESTIGATIONAL DRUGS (2018)
Comparing Postnatal Development of Gonadal Hormones and Associated Social Behaviors in Rats, Mice, and Humans
Margaret R. Bell
ENDOCRINOLOGY (2018)
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population
A. Liu et al.
CLINICAL GENETICS (2017)
Apolipoprotein D Overexpression Protects Against Kainate-Induced Neurotoxicity in Mice
Ouafa Najyb et al.
MOLECULAR NEUROBIOLOGY (2017)
Randomized, double-blind, placebo-controlled phase 2 study of ganaxolone as add-on therapy in adults with uncontrolled partial-onset seizures
Michael R. Sperling et al.
EPILEPSIA (2017)
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy
Marina Trivisano et al.
EPILEPSIA (2017)
Pharmacogenetics of aldo-keto reductase 1C (AKR1C) enzymes
Osama Y. Alshogran
EXPERT OPINION ON DRUG METABOLISM & TOXICOLOGY (2017)
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)
Duyen H. Pham et al.
HUMAN MOLECULAR GENETICS (2017)
Male patients affected by mosaic PCDH19 mutations: five new cases
I. M. de Lange et al.
NEUROGENETICS (2017)
Intranasal oxytocin treatment for social deficits and biomarkers of response in children with autism
Karen J. Parker et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice
Shuichi Hayashi et al.
SCIENTIFIC REPORTS (2017)
PCDH19-related epilepsy in two mosaic male patients
Alessandra Terracciano et al.
EPILEPSIA (2016)
Nuclear receptors outside the nucleus: extranuclear signalling by steroid receptors
Ellis R. Levin et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2016)
Epigenetic mechanisms in sexual differentiation of the brain and behaviour
Nancy G. Forger
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2016)
Corticosteroids Mechanisms of Action in Health and Disease
Sivapriya Ramamoorthy et al.
RHEUMATIC DISEASE CLINICS OF NORTH AMERICA (2016)
Reduced oxytocin receptor gene expression and binding sites in different brain regions in schizophrenia: A post-mortem study
Stefanie Uhrig et al.
SCHIZOPHRENIA RESEARCH (2016)
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
Jan Lotte et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2016)
The Timing of the Excitatory-to-Inhibitory GABA Switch Is Regulated by the Oxytocin Receptor via KCC2
Marianna Leonzino et al.
CELL REPORTS (2016)
Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy
Sharon R. Cooper et al.
ELIFE (2016)
The effect of epilepsy and antiepileptic drugs on sexual, reproductive and gonadal health of adults with epilepsy
Sherifa A. Hamed
EXPERT REVIEW OF CLINICAL PHARMACOLOGY (2016)
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice
Daniel T. Pederick et al.
SCIENTIFIC REPORTS (2016)
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency
Chuan Tan et al.
HUMAN MOLECULAR GENETICS (2015)
Steroids efficacy in the acute management of seizure clusters in one case of PCDH19 female epilepsy
G. Bertani et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2015)
Catamenial epilepsy: Update on prevalence, pathophysiology and treatment from the findings of the NIH Progesterone Treatment Trial
Andrew G. Herzog
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2015)
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy
Norimichi Higurashi et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2015)
Interactions between hormones and epilepsy
Erik Tauboll et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2015)
Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis
Claudia Compagnucci et al.
ONCOTARGET (2015)
The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis
D. LoParo et al.
MOLECULAR PSYCHIATRY (2015)
Apolipoprotein D takes center stage in the stress response of the aging and degenerative brain
Sarah Dassati et al.
NEUROBIOLOGY OF AGING (2014)
Steroidogenic Enzyme AKR1C3 Is a Novel Androgen Receptor-Selective Coactivator that Promotes Prostate Cancer Growth
Muralimohan Yepuru et al.
CLINICAL CANCER RESEARCH (2013)
PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy
Norimichi Higurashi et al.
EPILEPSY RESEARCH (2013)
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
David N. Cooper et al.
HUMAN GENETICS (2013)
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy
Carla Marini et al.
EPILEPSIA (2012)
PCDH19 mutation in Japanese females with epilepsy
Norimichi Higurashi et al.
EPILEPSY RESEARCH (2012)
Diagnosis and management of catamenial seizures: a review
Alberto Verrotti et al.
INTERNATIONAL JOURNAL OF WOMENS HEALTH (2012)
Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation
Christa E. Flueck et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Pharmacologic Rescue of Impaired Cognitive Flexibility, Social Deficits, Increased Aggression, and Seizure Susceptibility in Oxytocin Receptor Null Mice: A Neurobehavioral Model of Autism
Mariaelvina Sala et al.
BIOLOGICAL PSYCHIATRY (2011)
A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion
Michelle R. Emond et al.
JOURNAL OF CELL BIOLOGY (2011)
Critical review of current animal models of seizures and epilepsy used in the discovery and development of new antiepileptic drugs
Wolfgang Loescher
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2011)
Adhesion properties and retinofugal expression of chicken protocadherin-19
Kiyoto Tai et al.
BRAIN RESEARCH (2010)
Apolipoproteins in the brain: implications for neurological and psychiatric disorders
David A. Elliott et al.
CLINICAL LIPIDOLOGY (2010)
Neurosteroids and epilepsy
Giuseppe Biagini et al.
CURRENT OPINION IN NEUROLOGY (2010)
EFFECTS OF PUBERTY ON SEIZURE FREQUENCY
S-i. Niijima et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Lack of functional and expression homology between human and mouse aldo-keto reductase 1C enzymes: implications for modelling human cancers
Pedro Velica et al.
MOLECULAR CANCER (2009)
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Christel Depienne et al.
PLOS GENETICS (2009)
Apolipoprotein D is involved in the mechanisms regulating protection from oxidative stress
Maria D. Ganfornina et al.
AGING CELL (2008)
An indomethacin analogue, N-(4-chlorobenzoyl)-melatonin, is a selective inhibitor of aldo-keto reductase 1C3 (type 2 3α-HSD, type 5 17β-HSD, and prostaglandin F synthase), a potential target for the treatment of hormone dependent and hormone independent malignancies
Michael C. Byrns et al.
BIOCHEMICAL PHARMACOLOGY (2008)
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Leanne M. Dibbens et al.
NATURE GENETICS (2008)
Sex-specific genetic architecture of human disease
Carole Ober et al.
NATURE REVIEWS GENETICS (2008)
Null mutations in human and mouse orthologs frequently result in different phenotypes
Ben-Yang Liao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Loss of Glial lazarillo, a homolog of apolipoprotein D, reduces lifespan and stress resistance in Drosophila
D Sanchez et al.
CURRENT BIOLOGY (2006)
Nuclear hormone receptors and gene expression
A Aranda et al.
PHYSIOLOGICAL REVIEWS (2001)
分享论文
