PCDH10

Summary

Gene Symbol: PCDH10
Description: protocadherin 10
Alias: OL-PCDH, PCDH19, protocadherin-10
Species: human

Top Publications

  1. ncbi Identification and characterization of three members of a novel subclass of protocadherins
    T Wolverton
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, Connecticut, 06030, USA
    Genomics 76:66-72. 2001
  2. ncbi Functional epigenetics identifies a protocadherin PCDH10 as a candidate tumor suppressor for nasopharyngeal, esophageal and multiple other carcinomas with frequent methylation
    J Ying
    Cancer Epigenetics Laboratory, Sir YK Pao Cancer Center, Department of Clinical Oncology, The Chinese University of Hong Kong, Hong Kong, and Department of Pathology, National University Hospital, Singapore
    Oncogene 25:1070-80. 2006
  3. doi Identification and characterization of human PCDH10 gene promoter
    Zesong Li
    Guangdong Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Shenzhen PKU HKUST Medical Center, 1120 Lianhua Road, Shenzhen, Guangdong, PR China
    Gene 475:49-56. 2011
  4. doi Epigenetic inactivation of PCDH10 in human prostate cancer cell lines
    Zesong Li
    Guangdong Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Shenzhen PKUHKUST Medical Center, Shenzhen, Peoples Republic of China
    Cell Biol Int 35:671-6. 2011
  5. doi PCDH10 is a candidate tumour suppressor gene in medulloblastoma
    Kelsey C Bertrand
    Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumor Research Centre, Program in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, ON, M4N 1X8, Canada
    Childs Nerv Syst 27:1243-9. 2011
  6. doi The clinical significance of PCDH10 promoter methylation in patients with bladder transitional cell carcinoma
    Ying Li Lin
    Department of Urology, Xuzhou Tumor Hospital Xuzhou Third People s Hospital, Xuzhou, China
    Urol Int 90:219-24. 2013
  7. doi Frequent epigenetic silencing of PCDH10 by methylation in human colorectal cancer
    Xian Zhong
    Cancer Institute Key Laboratory for Cancer Intervention and Prevention, China National Ministry of Education, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China
    J Cancer Res Clin Oncol 139:485-90. 2013
  8. ncbi Clinical and prognostic significance of protocadherin-10 (PCDH10) promoter methylation in bladder cancer
    Y L Lin
    Department of Urology, Xuzhou Tumour Hospital, Xuzhou, Jiangsu Province, China
    J Int Med Res 40:2117-23. 2012
  9. doi Protocadherin 10 is frequently downregulated by promoter methylation and functions as a tumor suppressor gene in non-small cell lung cancer
    Xiaokui Tang
    Department of Respiratory Disease, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
    Cancer Biomark 12:11-9. 2012
  10. doi Downregulation of protocadherin-10 expression correlates with malignant behaviour and poor prognosis in human bladder cancer
    Jian Guo Ma
    Department of Urology, Second Hospital of Tianjin Medical University, Tianjin, China
    J Int Med Res 41:38-47. 2013

Research Grants

Scientific Experts

Detail Information

Publications105 found, 100 shown here

  1. ncbi Identification and characterization of three members of a novel subclass of protocadherins
    T Wolverton
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, Connecticut, 06030, USA
    Genomics 76:66-72. 2001
    ..Two of these, PCDH18 and PCDH19, are novel protocadherins and a third is the human orthologue of mouse Pcdh10. All three genes encode six ectodomain repeats with cadherin-like attributes and, consistent with the structural ..
  2. ncbi Functional epigenetics identifies a protocadherin PCDH10 as a candidate tumor suppressor for nasopharyngeal, esophageal and multiple other carcinomas with frequent methylation
    J Ying
    Cancer Epigenetics Laboratory, Sir YK Pao Cancer Center, Department of Clinical Oncology, The Chinese University of Hong Kong, Hong Kong, and Department of Pathology, National University Hospital, Singapore
    Oncogene 25:1070-80. 2006
    ..inactivated TSGs using methylation-subtraction combined with pharmacologic demethylation, and identified the PCDH10 CpG island as a methylated sequence in nasopharyngeal carcinoma (NPC)...
  3. doi Identification and characterization of human PCDH10 gene promoter
    Zesong Li
    Guangdong Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Shenzhen PKU HKUST Medical Center, 1120 Lianhua Road, Shenzhen, Guangdong, PR China
    Gene 475:49-56. 2011
    Recent studies have suggested roles for PCDH10 as a novel tumor suppressor gene. In our previous work, we located the core promoter of PCDH10 to a 462-bp segment of 5'-flanking region characterized by a high GC content...
  4. doi Epigenetic inactivation of PCDH10 in human prostate cancer cell lines
    Zesong Li
    Guangdong Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Shenzhen PKUHKUST Medical Center, Shenzhen, Peoples Republic of China
    Cell Biol Int 35:671-6. 2011
    b>PCDH10 (protocadherin-10), a novel tumour suppressor gene, is down-regulated in several human cancers due to hypermethylation of promoter CGIs (CpG islands)...
  5. doi PCDH10 is a candidate tumour suppressor gene in medulloblastoma
    Kelsey C Bertrand
    Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumor Research Centre, Program in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, ON, M4N 1X8, Canada
    Childs Nerv Syst 27:1243-9. 2011
    The aim of this study was to investigate the genetic and epigenetic mechanisms contributing to PCDH10 down-regulation in medulloblastoma...
  6. doi The clinical significance of PCDH10 promoter methylation in patients with bladder transitional cell carcinoma
    Ying Li Lin
    Department of Urology, Xuzhou Tumor Hospital Xuzhou Third People s Hospital, Xuzhou, China
    Urol Int 90:219-24. 2013
    To investigate the clinical significance of PCDH10 (protocadherin 10) promoter methylation in patients with bladder transitional cell carcinoma (TCC).
  7. doi Frequent epigenetic silencing of PCDH10 by methylation in human colorectal cancer
    Xian Zhong
    Cancer Institute Key Laboratory for Cancer Intervention and Prevention, China National Ministry of Education, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China
    J Cancer Res Clin Oncol 139:485-90. 2013
    ..Recently, methylation of PCDH10 was reported to be associated with multiple hematologic malignancies as well as some solid tumors...
  8. ncbi Clinical and prognostic significance of protocadherin-10 (PCDH10) promoter methylation in bladder cancer
    Y L Lin
    Department of Urology, Xuzhou Tumour Hospital, Xuzhou, Jiangsu Province, China
    J Int Med Res 40:2117-23. 2012
    To investigate the clinical and prognostic significance of protocadherin-10 (PCDH10) promoter methylation in serum-derived DNA from patients with bladder cancer.
  9. doi Protocadherin 10 is frequently downregulated by promoter methylation and functions as a tumor suppressor gene in non-small cell lung cancer
    Xiaokui Tang
    Department of Respiratory Disease, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
    Cancer Biomark 12:11-9. 2012
    b>Protocadherin 10 (PCDH10), a homophilic cell adhesion member of the protocadherin family, plays important roles in calcium-dependent cell-cell adhesion and signal transduction...
  10. doi Downregulation of protocadherin-10 expression correlates with malignant behaviour and poor prognosis in human bladder cancer
    Jian Guo Ma
    Department of Urology, Second Hospital of Tianjin Medical University, Tianjin, China
    J Int Med Res 41:38-47. 2013
    This study retrospectively evaluated the prognostic significance of downregulated protocadherin-10 (PCDH10) gene expression in bladder cancer.
  11. pmc Epigenetic alteration: new insights moving from tissue to plasma - the example of PCDH10 promoter methylation in colorectal cancer
    E Danese
    Department of Medicine, University Hospital of Verona, Hospital Policlinico G B Rossi, Verona, Italy
    Br J Cancer 109:807-13. 2013
    ..With the aim to explain this bias of agreement, we investigated whether protocadherin 10 (PCDH10) promoter methylation in tissue was associated with methylation pattern in matched cfDNA isolated ..
  12. doi PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis
    Gopeshwar Narayan
    Department of Pathology and Cell Biology, Columbia University Medical Center, New York Presbyterian Hospital, New York, NY
    Genes Chromosomes Cancer 52:1030-41. 2013
    b>PCDH10 is epigenetically inactivated in multiple tumor types; however, studies in mature lymphoid malignancies are limited...
  13. doi Protocadherin-10 acts as a tumor suppressor gene, and is frequently downregulated by promoter methylation in pancreatic cancer cells
    Chan Qiu
    Department of Gastroenterology, First Affiliated Hospital, Chongqing Medical University, Chongqing 400016, P R China
    Oncol Rep 36:383-9. 2016
    Protocadherin-10 (PCDH10), a member of non-clustered protocadherin family which plays important roles in calcium-dependent cell-cell signal transduction and adhesion...
  14. pmc Anatomical expression patterns of delta-protocadherins in developing chicken cochlea
    Juntang Lin
    Key Laboratory for medical tissue regeneration of Henan province, Xinxiang Medical University, China
    J Anat 221:598-608. 2012
    ..mRNAs of Pcdh1, Pcdh18 and Pcdh19 are also expressed in blood vessels of the cochlea...
  15. doi Peri- and postnatal development of cerebellar compartments in the mouse
    Izumi Sugihara
    Department of Systems Neurophysiology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo, Japan
    Cerebellum 12:325-7. 2013
    ..distinguished from each other by using different expression profiles of several marker molecules (PLCβ4, EphA4, Pcdh10, and a reporter molecule of the 1NM13 transgenic mouse strain)...
  16. pmc Virulence of infecting Helicobacter pylori strains and intensity of mononuclear cell infiltration are associated with levels of DNA hypermethylation in gastric mucosae
    Barbara G Schneider
    Division of Gastroenterology Department of Medicine Vanderbilt University Medical Center Nashville, TN USA
    Epigenetics 8:1153-61. 2013
    ..promoters of 5 genes with methylation alterations that discriminate gastric cancers from non-tumor epithelia (EN1, PCDH10, RSPO2, ZIC1, and ZNF610)...
  17. doi Expression of candidate genes for residual feed intake in Angus cattle
    W Al-Husseini
    Australian Cooperative Research Centre for Beef Genetic Technologies, University of New England, Armidale, NSW, Australia The Centre for Genetic Analysis and Applications, University of New England, Armidale, NSW, 2351, Australia
    Anim Genet 45:12-9. 2014
    ..Gene expression of eight candidate genes (AHSG, GHR, GSTM1, INHBA, PCDH19, S100A10, SERPINI2 and SOD3), previously identified as differentially expressed between divergent lines of high- ..
  18. doi Differential survival trends of stage II colorectal cancer patients relate to promoter methylation status of PCDH10, SPARC, and UCHL1
    Ellen Heitzer
    Institute of Human Genetics, Medical University of Graz, Graz, Austria
    Mod Pathol 27:906-15. 2014
    ..Therefore, we selected six gene promoters (FZD9, PCDH10 (protocadherin 10), SFRP2, SPARC (secreted protein acidic and rich in cysteine), UCHL1 (ubiquitin carboxyl-terminal hydrolase 1)..
  19. doi Nuclear factor-κB is involved in the protocadherin-10-mediated pro-apoptotic effect in multiple myeloma
    Zhen Li
    Department of Hematology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, P R China
    Mol Med Rep 10:832-8. 2014
    The gene encoding protocadherin-10 (PCDH10), a member of the cadherin superfamily, has been recently identified as a tumor suppressor gene (TSG). PCDH10 plays important roles in the apoptosis of tumor cells in some cancer types...
  20. doi A novel wnt regulatory axis in endometrioid endometrial cancer
    Yu Zhao
    Department of Obstetrics and Gynaecology, Li Ka Shing Institute of Health Sciences, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China
    Cancer Res 74:5103-17. 2014
    The Protocadherin 10 (PCDH10) is inactivated often by promoter hypermethylation in various human tumors, but its possible functional role as a tumor suppressor gene is not established...
  21. pmc Aberrant methylation of PCDH10 predicts worse biochemical recurrence-free survival in patients with prostate cancer after radical prostatectomy
    Li Wang
    Department of Urology, Affiliated Hospital, Hebei University of Engineering, Handan, Chile
    Med Sci Monit 20:1363-8. 2014
    ..b>PCDH10 (protocadherin-10) is a novel tumor suppressor gene, which is down-regulated by promoter methylation in prostate ..
  22. doi Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance
    Kinga Duszyc
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01 211, Warsaw, Poland
    J Appl Genet 56:49-56. 2015
    ..EFMR is caused by heterozygous mutations in the PCDH19 gene (locus Xq22.1) encoding protocadherin-19, a protein that is highly expressed during brain development...
  23. doi Identification of four novel PCDH19 Mutations and prediction of their functional impact
    Emanuela Leonardi
    Molecular Genetics of Neurodevelopment, Department of Women s and Children s Health, University of Padua, Padua, Italy
    Ann Hum Genet 78:389-98. 2014
    The PCDH19 gene encodes protocadherin-19, a transmembrane protein with six cadherin (EC) domains, containing adhesive interfaces likely to be involved in neuronal connection...
  24. doi Clinical significance of the methylated cytosine-phosphate-guanine sites of protocadherin-10 promoter for evaluating the prognosis of gastric cancer
    Jingyu Deng
    Department of Gastroenterology, Tianjin Medical University Cancer Hospital, City Key Laboratory of Tianjin Cancer Center and National Clinical Research Center for Cancer, Tianjin, China
    J Am Coll Surg 219:904-13. 2014
    Protocadherin-10 (PCDH10) has been identified as a tumor suppressor gene in multiple carcinomas...
  25. doi Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy
    Norimichi Higurashi
    Department of Pediatrics, Jikei University School of Medicine, 3 25 8, Nishi Shimbashi, Minato ku, Tokyo 105 8461, Japan Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University, 7 45 1, Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    Seizure 27:1-5. 2015
    The pathomechanism and treatment of PCDH19 female epilepsy (PCDH19-FE) remain unclear...
  26. pmc Detection of Selection Signatures on the X Chromosome in Three Sheep Breeds
    Caiye Zhu
    National Center for Molecular Genetics and Breeding of Animal, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences, No 2 Yuanmingyuan West Rd, Haidian, Beijing 100193, China
    Int J Mol Sci 16:20360-74. 2015
    ..harboring genes that had human orthologs, including BKT, CENPI, GUCY2F, MSN, PCDH11X, PLP1, VSIG4, PAK3, WAS, PCDH19, PDHA1, and SRPX2...
  27. doi Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
    Jan Lotte
    Neuropädiatrie, Schön Klinik Vogtareuth, Germany Electronic address
    Seizure 35:106-10. 2016
    b>PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant...
  28. doi Protocadherin 10 inhibits cell proliferation and induces apoptosis via regulation of DEP domain containing 1 in endometrial endometrioid carcinoma
    Yihua Yang
    Reproductive Medicine Center of the Affiliated Hospital, Guilin Medical University, Guilin, Guangxi, China Electronic address
    Exp Mol Pathol 100:344-52. 2016
    ..Previously, we have demonstrated that protocadherin 10 (PCDH10) is a tumor suppressor gene in EEC, and in this study we further explored the molecular mechanisms of ..
  29. doi [Genotype and phenotype of female Dravet syndrome with PCDH19 mutations]
    A J Liu
    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
    Zhonghua Er Ke Za Zhi 54:327-31. 2016
    To explore the genotype and phenotype of female Dravet syndrome (DS) patients with PCDH19 mutations.
  30. pmc Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice
    Daniel T Pederick
    School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5005, Australia
    Sci Rep 6:26765. 2016
    Protocadherin 19 (Pcdh19) is an X-linked gene belonging to the protocadherin superfamily, whose members are predominantly expressed in the central nervous system and have been implicated in cell-cell adhesion, axon guidance and dendrite ..
  31. pmc A chromosome 16p13.11 microduplication causes hyperactivity through dysregulation of miR-484/protocadherin-19 signaling
    M Fujitani
    Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Suita, Japan
    Mol Psychiatry . 2016
    ..Luciferase screening identified the 3'-untranslated region of protocadherin-19 (Pcdh19) as a target of miR-484. The effect of miR-484 on neurogenesis was rescued by ectopic PCDH19 expression...
  32. doi The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population
    A Liu
    Department of Pediatrics, Peking University First Hospital, Beijing, China
    Clin Genet 91:54-62. 2017
    Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population...
  33. pmc Sociability Deficits and Altered Amygdala Circuits in Mice Lacking Pcdh10, an Autism Associated Gene
    Hannah Schoch
    Cell and Molecular Biology Graduate Group, Perelman School of Medicine at the University of Pennsylvania, Philadelphia
    Biol Psychiatry 81:193-202. 2017
    ..Human genetic studies have implicated PCDH10, a member of the δ2 subfamily of nonclustered protocadherin genes, in ASD...
  34. pmc Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy
    Sharon R Cooper
    Department of Chemistry and Biochemistry, The Ohio State University, Columbus, United States
    elife 5:. 2016
    ..Mutations in protocadherin-19 (PCDH19) result in a female-limited, infant-onset form of epilepsy (PCDH19-FE)...
  35. ncbi Genome-Wide Association Analysis of the Sense of Smell in U.S. Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans
    Jing Dong
    Epidemiology Branch, National Institute of Environmental Health Sciences, 111 T W Alexander Dr P O Box 12233, Mail Drop A3 05, Research Triangle Park, NC, 27709, USA
    Mol Neurobiol . 2016
    ..In the AA population, we identified nine novel regions (KLF4-ACTL7B, RAPGEF2-FSTL5, TCF4-LOC100505474, PCDH10, KIAA1751, MYO5B, MIR320B1-CD2, NR5A2-LINC00862, SALL1-C16orf97) that were associated with the sense of smell (P &..
  36. pmc Identification of targets of miRNA-221 and miRNA-222 in fulvestrant-resistant breast cancer
    Pengfei Liu
    Department of Lymphoma, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin 300060, P R China Tianjin s Clinical Research Center for Cancer, Sino US Center of Lymphoma and Leukemia, Tianjin 300060, P R China
    Oncol Lett 12:3882-3888. 2016
    ..In the miRNA-mRNA regulatory network, miRNA-222 was demonstrated to target protocadherin 10 (PCDH10)...
  37. ncbi Comprehensive DNA Methylation and Mutation Analyses Reveal a Methylation Signature in Colorectal Sessile Serrated Adenomas
    Arpád V Patai
    2nd Department of Medicine, Semmelweis University, Szentkirályi utca 46, Budapest, 1088, Hungary
    Pathol Oncol Res . 2016
    ..12 genes (CALCA, DKK2, GALR2, OPCML, PCDH10, SFRP1, SFRP2, SLIT3, SST, TAC1, VIM, WIF1) were hypermethylated in all SSAs and 2 additional genes (BNC1 and ..
  38. ncbi Identification of 20 genes aberrantly methylated in human breast cancers
    Kazuaki Miyamoto
    Carcinogenesis Division, National Cancer Center Research Institute, Chuo Ku, Tokyo, Japan
    Int J Cancer 116:407-14. 2005
    ..CGI in 5' upstream regions of 20 genes, TSPAN-2, AK5, LOC284999, HOXD11, FLJ25161, XT3, PCDH10, PCDHGB6, SIM1, LOC346978, COE2, TDH (FLJ25033), LOC346419, FLJ33790, GJB2, AMN, LOC201164, DLX4, DCC and FOXA2, ..
  39. doi Silencing of PCDH10 in hepatocellular carcinoma via de novo DNA methylation independent of HBV infection or HBX expression
    Song Fang
    Department of Laboratory Medicine, The First Affiliated Hospital of Chongqing Medical University, No 1 Youyi Road, Yuzhong District, 400016, Chongqing, People s Republic of China
    Clin Exp Med 13:127-34. 2013
    b>PCDH10 is a key tumor suppressive gene for nasopharyngeal, esophageal, and other carcinomas with frequent methylation...
  40. doi Expression of multiple delta-protocadherins during feather bud formation
    Juntang Lin
    Institute of Anatomy I, University of Jena School of Medicine, Jena University Hospital, Teichgraben 7, D 07743 Jena, Germany
    Gene Expr Patterns 13:57-65. 2013
    ..Pcdh1, Pcdh7, Pcdh8 and Pcdh10 are differentially expressed in the epidermis of the feather bud...
  41. doi Comparative study of human aortic and mitral valve interstitial cell gene expression and cellular function
    Wei Sun
    Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, PR China
    Genomics 101:326-35. 2013
    ..Higher expression of NKX2-5, TBX15, OGN, OMD, and CDKN1C and lower expression of TBX5, MMP1, and PCDH10 were found in hAVICs compared to hMVICs...
  42. doi PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy
    Norimichi Higurashi
    Department of Pediatrics, School of Medicine, Fukuoka University, 7 45 1, Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    Epilepsy Res 106:191-9. 2013
    Abnormalities in the protocadherin 19 (PCDH19) gene cause early-onset epilepsy exclusively in females...
  43. doi PCDH19 mutation in Japanese females with epilepsy
    Norimichi Higurashi
    Department of Pediatrics, School of Medicine, Fukuoka University, 7 45 1, Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    Epilepsy Res 99:28-37. 2012
    To determine the significance of PCDH19 mutations in Japanese females with epilepsy and to delineate their phenotypes.
  44. doi Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures
    A K Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Clin Genet 82:540-5. 2012
    Recently, missense and truncating mutations in the gene PCDH19 have been reported to cause female-restricted epilepsy with mental retardation (EFMR)...
  45. doi Expression of delta-protocadherins in the spinal cord of the chicken embryo
    Juntang Lin
    Institute of Anatomy I, University of Jena School of Medicine, Jena University Hospital, D 07743 Jena, Germany
    J Comp Neurol 520:1509-31. 2012
    ..members of the delta-protocadherin subfamily of cadherins (Pcdh1, Pcdh7, Pcdh8, Pcdh9, Pcdh10, Pcdh17, Pcdh18, and Pcdh19) from the chicken, and investigated their expression in the developing chicken spinal cord by in situ ..
  46. doi Role of PCDH10 and its hypermethylation in human gastric cancer
    Zesong Li
    Shenzhen Second People s Hospital, First Affiliated Hospital of Shenzhen University, 3002 Shungang West Road, Futian District, Shenzhen 518036, Guangdong Province, PR China
    Biochim Biophys Acta 1823:298-305. 2012
    ..b>Protocadherin 10 (PCDH10), a member of the cadherin superfamily, is a recently identified putative TSG...
  47. pmc Protocadherin-10 is involved in angiogenesis and methylation correlated with multiple myeloma
    Ying Li
    Department of Hematology, First Affiliated Hospital of Chongqing Medical University, Chongqing, PR China
    Int J Mol Med 29:704-10. 2012
    Protocadherin-10 (PCDH10) which is located at 4q28.3, is a member of the cadherin superfamily of cell adhesion molecules...
  48. doi PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder
    Christel Depienne
    INSERM, Centre de Recherche de l Institut du Cerveau et de la Moelle Épinière UMRS_975, Hopital de la Pitie Salpetriere, Paris, France
    Hum Mutat 33:627-34. 2012
    b>PCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148-amino-acid protein, highly expressed during brain development, could play significant roles in neuronal migration or establishment of synaptic connections...
  49. doi Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature
    Ana Camacho
    Child Neurology Unit, Hospital Universitario 12 de Octubre, Carretera de Andalucia Km 5, 4, 28041 Madrid, Spain
    Epilepsy Behav 24:134-7. 2012
    Mutation in the protocadherin 19 (PCDH19) gene is an increasingly recognized cause of epilepsy in females. This disorder is frequently associated with mental retardation and psychiatric features...
  50. doi Cadherin expression delineates the divisions of the postnatal and adult mouse amygdala
    Nicole Hertel
    Institute of Anatomy I, Friedrich Schiller University School of Medicine, Jena University Hospital, 07743 Jena, Germany
    J Comp Neurol 520:3982-4012. 2012
    ..Cdh6, Cdh7, Cdh8, Cdh11) and eight delta-protocadherins (Pcdh1, Pcdh7, Pcdh8, Pcdh9, Pcdh10, Pcdh11, PCdh17, PCdh19) were studied by in situ hybridization in the postnatal (P5) and adult mouse amygdala...
  51. doi A novel PCDH19 mutation inherited from an unaffected mother
    Petia S Dimova
    Clinic of Child Neurology, St Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria
    Pediatr Neurol 46:397-400. 2012
    ..e., autistic and aggressive features, worsened with time. Molecular genetic testing for PCDH19 mutations was performed by sequencing all exons of the gene, and revealed duplication c.2705dupA (p...
  52. doi Diagnosis and long-term course of Dravet syndrome
    Ingrid E Scheffer
    Department of Medicine and Paediatrics, Florey Neuroscience Institutes, University of Melbourne, Austin Health and Royal Children s Hospital, Melbourne, Australia
    Eur J Paediatr Neurol 16:S5-8. 2012
    ..These include sequencing mutations and copy number variant anomalies; 90% of mutations arise de novo. PCDH19 mutational analysis is a second-tier test for girls with a Dravet-like picture who do not have SCN1A mutations...
  53. doi Cadherins and neuropsychiatric disorders
    Christoph Redies
    Institute of Anatomy I, Teichgraben 7, Jena University School of Medicine, Jena University Hospital, D 07740 Jena, Germany
    Brain Res 1470:130-44. 2012
    ..For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with ..
  54. pmc Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome
    Anna Ka Yee Kwong
    Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
    PLoS ONE 7:e41802. 2012
    ..A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the gene encoding protocadherin-19. Mutations in other genes account for only a very small proportion of families...
  55. doi Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy
    Carla Marini
    Pediatric Neurology Unit, A Meyer Children s Hospital University of Florence, Florence, Italy
    Epilepsia 53:2111-9. 2012
    Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features...
  56. doi Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR
    A Terracciano
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Neurogenetics 13:341-5. 2012
    ..with mental retardation limited to females (EFMR; MIM 300088) has been recently associated to mutations in the PCDH19 gene, located on chromosome X and encoding for protocadherin 19...
  57. doi Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations
    Silke Appenzeller
    Institute of Experimental Medicine, Christian Albrechts University, Kiel, Germany
    Dev Med Child Neurol 54:1144-8. 2012
    ..FIRES shares several phenotypic features with epilepsies seen in patients with protocadherin 19 (PCDH19), sodium channel protein type 1 subunit alpha (SCN1A), and DNA polymerase subunit gamma-1 (POLG) mutations...
  58. ncbi Dravet syndrome: a genetic epileptic disorder
    Mari Akiyama
    Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, and Okayama University Hospital, Okayama 700 8558, Japan
    Acta Med Okayama 66:369-76. 2012
    ..Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with DS...
  59. doi Clustered fine compartmentalization of the mouse embryonic cerebellar cortex and its rearrangement into the postnatal striped configuration
    Hirofumi Fujita
    Department of Systems Neurophysiology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1 5 45 Yushima, Tokyo 113 8519, Japan
    J Neurosci 32:15688-703. 2012
    ..A complete set of 54 clustered PC subsets, which had different expression profiles of FoxP2, PLCβ4, EphA4, Pcdh10, and a reporter molecule of the 1NM13 transgenic mouse strain, were distinguished in three-dimensional space in ..
  60. pmc Genetic analysis of 16 NMR-lipoprotein fractions in humans, the GOLDN study
    Aldi T Kraja
    Division of Statistical Genomics, Washington University School of Medicine, 4444 Forest Park Ave, Campus Box 8506, St Louis, MO 63108, USA
    Lipids 48:155-65. 2013
    ..21), CRIPT (2p21), ACOXL (2q13), BCL2L11 (2q13), PCDH10 (4q28.3), NXPH1 (7p22), and SLC24A4 (14q32.12) in association with NMR-LDLs; HOMER1 (5q14...
  61. ncbi Genetic testing of epileptic encephalopathies of infancy: an approach
    Suvasini Sharma
    Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India
    Can J Neurol Sci 40:10-6. 2013
    ..The recently described genes include; Cyclin-Dependent Kinase-Like 5 gene (CDKL5), Protocadherin 19 (PCDH19), Sodium channel neuronal type 1a subunit gene (SCN1A), Aristaless-Related Homeobox Gene (ARX), and Syntaxin ..
  62. pmc Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95
    Nien Pei Tsai
    Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Cell 151:1581-94. 2012
    ..We report here that protocadherin 10 (Pcdh10), an autism-spectrum disorders gene, is necessary for this process...
  63. doi Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
    J J T van Harssel
    Department of Medical Genetics, University Medical Center Utrecht, P O Box 85090, 3508 AB Utrecht, The Netherlands
    Neurogenetics 14:23-34. 2013
    Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome...
  64. ncbi Zebrafish protocadherin 10 is involved in paraxial mesoderm development and somitogenesis
    Tohru Murakami
    Neuromuscular and Developmental Anatomy, Gunma University Graduate School of Medical Sciences, Gunma, Japan
    Dev Dyn 235:506-14. 2006
    Here, we present the first report of the molecular cloning of zebrafish protocadherin 10 (Pcdh10, OL-protocadherin) and describe its functional analyses in the development of segmental plate...
  65. ncbi Expression of the delta-protocadherin gene Pcdh19 in the developing mouse embryo
    Yaned Gaitan
    McGill Cancer Centre and Biochemistry Department, McGill University, 3655 Promenade Sir William Osler, Montreal, Que, Canada H3G 1Y6
    Gene Expr Patterns 6:893-9. 2006
    ..In a screen for potential regulators of kidney development, we have identified Pcdh19, a poorly characterized member of the delta-protocadherin subfamily...
  66. ncbi Frequent epigenetic silencing of protocadherin 10 by methylation in multiple haematologic malignancies
    Jianming Ying
    Cancer Epigenetics Laboratory, Department of Clinical Oncology, The Chinese University of Hong Kong, Hong Kong
    Br J Haematol 136:829-32. 2007
    Epigenetic silencing of tumour suppressor genes (TSG) inactivates TSG functions. Previously, we identified PCDH10 as a methylated TSG in carcinomas...
  67. ncbi Spatiotemporal expression pattern of non-clustered protocadherin family members in the developing rat brain
    S Y Kim
    Department of Anatomy, Division of Brain Korea 21, Biomedical Science, Korea University College of Medicine, Anam Dong, Sungbuk Gu, Seoul 136 705, Korea
    Neuroscience 147:996-1021. 2007
    ..Some of them (PCDH1, PCDH7, PCDH9, PCDH10, PCDH11, PCDH17, and PCDH20) exhibited region-dependent expression pattern in the cerebral cortex during the early ..
  68. ncbi OL-Protocadherin is essential for growth of striatal axons and thalamocortical projections
    Masato Uemura
    RIKEN Center for Developmental Biology, 2 2 3 Minatojima minamimachi, Chuo Ku, Kobe 650 0047, Japan
    Nat Neurosci 10:1151-9. 2007
    ..Here we show that OL-pc-deficient (Pcdh10(-/-)) mice have defects in axon pathways through the ventral telencephalon; for example, thalamocortical and ..
  69. ncbi Hypergonadotropic hypogonadism in a patient with inv ins (2;4)
    A Tzschach
    Max Planck Institute for Molecular Genetics, Department Ropers, Berlin, Germany
    Int J Androl 32:226-30. 2009
    ..3 between BACs RP11-143E9 and RP11-285A15, an interval that harbours the PCDH10 gene. In 4q31.22, a breakpoint-spanning clone (RP11-6L6) was identified which contains the genes LSM6 and SLC10A7...
  70. pmc X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    Leanne M Dibbens
    Department of Genetic Medicine, Level 9 Rieger Building, Women s and Children s Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia
    Nat Genet 40:776-81. 2008
    ..Aided by systematic resequencing of 737 X chromosome genes, we identified different protocadherin 19 (PCDH19) gene mutations in seven families with EFMR...
  71. pmc Identifying autism loci and genes by tracing recent shared ancestry
    Eric M Morrow
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Science 321:218-23. 2008
    ..The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal ..
  72. pmc Contact-dependent promotion of cell migration by the OL-protocadherin-Nap1 interaction
    Shinsuke Nakao
    Graduate School of Biostudies, Kyoto University, Sakyo ku, Kyoto 606 8501, Japan
    J Cell Biol 182:395-410. 2008
    ..These results suggest that OL-pc remodels the motility and adhesion machinery at cell junctions by recruiting the Nap1-WAVE1 complex to these sites and, in turn, promotes the migration of cells...
  73. doi Inhibition of apoptosis by downregulation of hBex1, a novel mechanism, contributes to the chemoresistance of Bcr/Abl+ leukemic cells
    Kefeng Ding
    Cancer Institute, Second Affiliated Hospital of Zhejiang University School of Medicine, Zhejiang Province, Hangzhou, PR China
    Carcinogenesis 30:35-42. 2009
    ..Further investigation revealed that hBex1 associates with protocadherin 10 (PCDH10)...
  74. doi Methylation of protocadherin 10, a novel tumor suppressor, is associated with poor prognosis in patients with gastric cancer
    Jun Yu
    Institute of Digestive Disease and Department of Medicine, The Chinese University of Hong Kong, Shatin, NT, Hong Kong
    Gastroenterology 136:640-51.e1. 2009
    By using methylation-sensitive representational difference analysis, we identified protocadherin 10 (PCDH10), a gene that encodes a protocadherin and is silenced in a tumor-specific manner...
  75. pmc Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
    Christel Depienne
    Département de génétique et cytogénétique, AP HP, Fédération de Génétique, Hopital de la Salpetriere, Paris, France
    PLoS Genet 5:e1000381. 2009
    ..A hemizygous deletion on chromosome Xq22.1, encompassing the PCDH19 gene, was found in one male patient...
  76. pmc Pioneers in the ventral telencephalon: The role of OL-protocadherin-dependent striatal axon growth in neural circuit formation
    Shinji Hirano
    RIKEN Center for Developmental Biology, 2 2 3 Minatojima minamimachi, Chuo Ku, Kobe 650 0047, Japan
    Cell Adh Migr 1:176-8. 2007
    ..This hypothesis will open a new possibility to reveal the unknown mechanism of neural circuit formation in the ventral telencephalon...
  77. pmc Protocadherin PCDH10, involved in tumor progression, is a frequent and early target of promoter hypermethylation in cervical cancer
    Gopeshwar Narayan
    Department of Pathology, Columbia University Medical Center, New York, NY 10032, USA
    Genes Chromosomes Cancer 48:983-92. 2009
    ..Towards this goal, we first determined the copy number alterations of chromosome 4 and then examined the role of PCDH10 mapped to 4q28 as a candidate tumor suppressor gene...
  78. doi Field methylation silencing of the protocadherin 10 gene in cervical carcinogenesis as a potential specific diagnostic test from cervical scrapings
    Kai Hung Wang
    Department of Obstetrics and Gynecology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan, Republic of China
    Cancer Sci 100:2175-80. 2009
    b>PCDH10 is a member of the protocadherin cell adhesion molecule family, which are frequently downregulated in cancers...
  79. doi Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
    Kim Hynes
    SA Pathology, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
    J Med Genet 47:211-6. 2010
    ..Mutations in the protocadherin 19 (PCDH19) gene have been identified in seven unrelated families with EFMR.
  80. doi Expression of protocadherin-19 in the nervous system of the embryonic zebrafish
    Qin Liu
    Department of Biology, University of Akron, Akron, Ohio 44325, USA
    Int J Dev Biol 54:905-11. 2010
    ..mRNA encoding protocadherin-19 (Pcdh19) began to be expressed at about 12 hours post fertilization (hpf) showing a segmental expression pattern in the ..
  81. pmc Expression of classic cadherins and delta-protocadherins in the developing ferret retina
    Johannes Etzrodt
    Institute of Anatomy I, University of Jena School of Medicine, Teichgraben 7, D 07743 Jena, Germany
    BMC Neurosci 10:153. 2009
    ..cadherins (CDH4, CDH6, CDH7, CDH8, CDH11, CDH14, CDH20) and 8 delta-protocadherins (PCDH1, PCDH7, PCDH8, PCDH9, PCDH10, PCDH11, PCDH17, PCDH18) at representative stages of retinal development and in the mature retina of the ferret by ..
  82. pmc Genome-wide DNA methylation profiling reveals novel epigenetically regulated genes and non-coding RNAs in human testicular cancer
    H H Cheung
    Laboratory of Clinical Genomics, Section on Developmental Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Br J Cancer 102:419-27. 2010
    ..This report documents the genome-wide analysis of differential methylation in an in vitro model culture system. Interesting genes were validated in TGCT patient samples...
  83. doi Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI)
    Zulfikar Arlier
    Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA
    J Child Neurol 25:1265-8. 2010
    ..Mutational analysis of other responsible genes, GABRG2 and PCDH19, were unrevealing...
  84. ncbi High-resolution melting analysis of PCDH10 methylation levels in gastric, colorectal and pancreatic cancers
    B Yu
    Biomedical Research Institute, Shenzhen PKU HKUST Medical Center, China
    Neoplasma 57:247-52. 2010
    ..b>PCDH10 was characterized a novel tumor suppressive gene in and was epigenetically silenced in multiple haematologic ..
  85. pmc Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism
    Lucie Tosca
    AP HP, Histologie, Embryologie et Cytogenetique, Hopital Antoine Beclere, 157 rue de la Porte de Trivaux, Clamart Cedex, France
    Eur J Hum Genet 18:882-8. 2010
    ..The amplified region included genes involved in neurological development (NEUROG2, MAB21L2, PCDH10/18 and GRIA2)...
  86. doi The expression of non-clustered protocadherins in adult rat hippocampal formation and the connecting brain regions
    S Y Kim
    Department of Anatomy and Brain Korea 21 Biomedical Science program, Korea University, College of Medicine, Anam Dong, Sungbuk Gu, Seoul 136 705, Republic of Korea
    Neuroscience 170:189-99. 2010
    ..The expressions of PCDH1, PCDH9, PCDH10 and PCDH20 showed septal preferences, whereas the expressions of PCDH8, PCDH11, PCDH17 and PCDH19 showed temporal ..
  87. doi Protocadherin 19 mutations in girls with infantile-onset epilepsy
    C Marini
    Child Neurology Unit, Children s Hospital A Meyer, Viale Pieraccini 24, 50139 Firenze, Italy
    Neurology 75:646-53. 2010
    To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy.
  88. doi Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome
    Seema M Jamal
    Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Am J Med Genet A 152:2475-81. 2010
    ..In 2008, mutations within the protocadherin 19 (PCDH19) gene were implicated as causative of EFMR [Dibbens et al. (2008); Nat Genet 40:776-781]...
  89. doi Testing for methylated PCDH10 or WT1 is superior to the HPV test in detecting severe neoplasms (CIN3 or greater) in the triage of ASC-US smear results
    Cuei Jyuan Lin
    Center for Cervical Cancer Prevention, Department of Research, Buddhist Tzu Chi General Hospital, Hualien, Republic of China
    Am J Obstet Gynecol 204:21.e1-7. 2011
    ..Recently, 3 novel methylation-silenced genes, PAX1, WT1, and PCDH10, have been found to be specifically associated with cervical cancer...
  90. doi Absence of layer-specific cadherin expression profiles in the neocortex of the reeler mutant mouse
    Nicole Hertel
    Institute of Anatomy I, University of Jena School of Medicine, Jena University Hospital, D 07743 Jena, Germany
    Cereb Cortex 21:1105-17. 2011
    ..study, we investigated the mRNA expression of cadherins (Cdh4, Cdh6, Cdh7, Cdh8, Pcdh8, Pcdh9, Pcdh11, Pcdh17, and Pcdh19) in the cerebral cortex of wild-type (wt) mice and reeler mutants...
  91. pmc Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
    Christel Depienne
    Département de génétique et cytogénétique, Hopital de la Pitie Salpetriere, Paris, France
    Hum Mutat 32:E1959-75. 2011
    Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome...
  92. pmc Protocadherin-19 and N-cadherin interact to control cell movements during anterior neurulation
    Sayantanee Biswas
    Center for Molecular Neurobiology, Ohio State University Medical Center, Columbus, OH 43210, USA
    J Cell Biol 191:1029-41. 2010
    ..Our results suggest that Pcdh 19 and Ncad function together to regulate cell adhesion and to mediate morphogenetic movements during brain development...
  93. doi Cadherin expression in the somatosensory cortex: evidence for a combinatorial molecular code at the single-cell level
    K Krishna-K
    University of Jena School of Medicine, Teichgraben 7, D 07743 Jena, Germany
    Neuroscience 175:37-48. 2011
    ..of five classic cadherins (Cdh4, Cdh6, Cdh7, Cdh8, Cdh11) and eight δ-protocadherins (Pcdh1, Pcdh7, Pcdh8, Pcdh9, Pcdh10, Pcdh11, Pcdh17 and Pcdh19) in the primary somatosensory cortex of the adult mouse...
  94. pmc Non-clustered protocadherin
    Soo Young Kim
    Department of Anatomy and Division of Brain Korea, Korea University College of Medicine Anam Dong, Seoul, South Korea
    Cell Adh Migr 5:97-105. 2011
    ..them to be further classified into three subgroups: δ1 (PCDH1, PCDH7, PCDH9, PCDH11 and PCDH20), δ2 (PCDH8, PCDH10, PCDH12, PCDH17, PCDH18 and PCDH19) and ε (PCDH15, PCDH16, PCDH21 and MUCDHL)...
  95. doi Discussion: 'Testing for biomarkers after ASC-US Pap smears' by Lin et al
    George A Macones
    Department of Obstetrics and Gynecology, Washington University School of Medicine, St Louis, MO, USA
    Am J Obstet Gynecol 204:e12-3. 2011
    ..Article discussed: Lin CJ, Lai H-C, Wang KH, et al. Testing for methylated PCDH10 or WT1 is superior to the HPV test in detecting severe neoplasms (CIN3 or greater) in the triage of ASC-US smear ..
  96. ncbi Testing for biomarkers after ASC-US Pap smears: Lin et al
    George A Macones
    Mitchell and Elaine Yanow Professor and Head, Department of Obstetrics and Gynecology, Washington University School of Medicine, St Louis, MO
    Am J Obstet Gynecol 204:87-8. 2011
    ..Article discussed: Lin CJ, Lai H-C, Wang KH, et al. Testing for methylated PCDH10 or WT1 is superior to the HPV test in detecting severe neoplasms (CIN3 or greater) in the triage of ASC-US smear ..
  97. doi The genetics of Dravet syndrome
    Carla Marini
    Pediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Florence, Italy
    Epilepsia 52:24-9. 2011
    ..A small percentage of female patients with a DS-like phenotype might carry PCDH19 mutations. Rare mutations have been identified in the GABARG2 and SCN1B genes...
  98. doi Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
    Nicola Specchio
    Neurology Unit, Department of Neuroscience, Bambino Gesu Children s Hospital IRCCS, Piazza S Onofrio 4, Rome, Italy
    Epilepsia 52:1251-7. 2011
    To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations.
  99. doi Molecular genetics of Dravet syndrome
    Peter De Jonghe
    Neurogenetic Group, VIB Department of Molecular Genetics, University of Antwerp, Belgium
    Dev Med Child Neurol 53:7-10. 2011
    ..The second most important Dravet-associated gene is PCDH19.These patients initially may have all characteristics of Dravet syndrome but may later run a somewhat different ..
  100. doi Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
    L M Dibbens
    Epilepsy Research Program, SA Pathology at Women s and Children s Hospital, 72 King William Rd, North Adelaide, SA 5006, South Australia
    Neurology 76:1514-9. 2011
    ..Mutations in the protocadherin 19 (PCDH19) gene cause epilepsy and mental retardation limited to females (EFMR)...
  101. doi Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation
    Nicola Specchio
    Division of Neurology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Epilepsia 52:e172-5. 2011
    ..between febrile infection-related epilepsy syndrome (FIRES) and epilepsy in female patients with protocadherin 19 (PCDH19) mutation...

Research Grants5

  1. Kimberly Huber; Fiscal Year: 2016
    ..synapse elimination by regulating the translation of MEF2-generated transcripts - including Protocadherin10 (Pcdh10) and Arc/Arg3.1. We find that Arc and Pcdh10 mediate elimination of synapses through distinct mechanisms...
  2. Mechanism of differential adhesion by protocadherin-cadherin complexes
    JAMES DAVID JONTES; Fiscal Year: 2013
    ..In our previous work, we showed that Protocadherin-19 (Pcdh19) associates with N-cadherin (Ncad) to form a heteromeric cis-complex...
  3. Transgenic and knockout approaches to study protocadherin function
    JAMES DAVID JONTES; Fiscal Year: 2013
    ..In particular, mutations in pcdh19 result in a female-limited form of infant-onset epilepsy...
  4. INVESTIGATION OF PROTOCADHERIN-10 IN MEF2- AND FMRP-MEDIATED SYNAPSE ELIMINATION
    Nien Pei Tsai; Fiscal Year: 2013
    ..The proposed research of this application focuses on an autism-spectrum-disorders (ASD) gene, protocadherin-10 (PCDH10) (Morrow et al...
  5. Lift-off polymer array approach to axon guidance
    David Lin; Fiscal Year: 2009
    ..We will compare them against conventional arrays, and then use them to search for axon guidance cues expressed by OSNs. ..