Genomes and Genes
Gene Symbol: RPE65
Description: RPE65, retinoid isomerohydrolase
Alias: BCO3, LCA2, RP20, mRPE65, rd12, sRPE65, retinoid isomerohydrolase, BCO family, member 3, RBP-binding membrane protein, all-trans-retinyl-palmitate hydrolase, p63, retinal pigment epithelium specific protein 65, retinal pigment epithelium-specific 65 kDa protein, retinal pigment epithelium-specific protein 65kDa, retinitis pigmentosa 20 (autosomal recessive), retinol isomerase
Publications280 found, 100 shown here
- Rpe65 isomerase associates with membranes through an electrostatic interaction with acidic phospholipid headgroupsQuan Yuan
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA
J Biol Chem 285:988-99. 2010..The critical isomerization step in this pathway is catalyzed by Rpe65. Rpe65 is strongly associated with membranes but contains no membrane-spanning segments...
- Deletion of GRK1 causes retina degeneration through a transducin-independent mechanismJie Fan
Department of Ophthalmology, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29412, USA
J Neurosci 30:2496-503. 2010b>Rpe65(-/-) mice are unable to produce 11-cis-retinal, the chromophore of visual pigments. Consequently, the pigment is present as the apoprotein opsin with a minute level of pigment containing 9-cis-retinal as chromophore...
- The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3C P Hamel
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892
Genomics 20:509-12. 1994The human and murine chromosomal localization for the gene for the retinal pigment epithelium-specific protein RPE65 was determined. Using interspecific backcross analysis, we mapped Rpe65 to the distal end of mouse chromosome 3...
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyDebra A Thompson
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA
Am J Hum Genet 70:224-9. 2002..We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14...
- Mutations in RPE65 cause Leber's congenital amaurosisF Marlhens
Nat Genet 17:139-41. 1997
- Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophyS M Gu
Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
Nat Genet 17:194-7. 1997..The RPE expresses a tissue-specific and evolutionarily highly conserved 61 kD protein (RPE65) present at high levels in vivo...
- Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosisH Morimura
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 95:3088-93. 1998b>RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium...
- Mutation analysis of 3 genes in patients with Leber congenital amaurosisA J Lotery
Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, USA
Arch Ophthalmol 118:538-43. 2000To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA).
- Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutationsKholoud Al-Khayer
Center for Genetic Eye Diseases, Cole Eye Institute, Cleaveland Clinic Foundation, Ohio 44195, USA
Am J Ophthalmol 137:375-7. 2004To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene.
- RPE65 is the isomerohydrolase in the retinoid visual cycleGennadiy Moiseyev
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
Proc Natl Acad Sci U S A 102:12413-8. 2005b>RPE65 is an abundant protein in the retinal pigment epithelium. Mutations in RPE65 are associated with inherited retinal dystrophies...
- Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epitheliumYusuke Takahashi
Department of Medicine Endocrinology, The University of Oklahoma Health Sciences Center, BSEB 328B, Oklahoma City, 73104, USA
FEBS Lett 579:5414-8. 2005We have recently reported that RPE65 from the retinal pigment epithelium is the isomerohydrolase, a critical enzyme in the visual cycle for regeneration of 11-cis retinal, the chromophore for visual pigments...
- Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 geneLeila el Matri
Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
Graefes Arch Clin Exp Ophthalmol 244:1104-12. 2006..To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD)...
- Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activityYusuke Takahashi
Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
J Biol Chem 281:21820-6. 2006b>RPE65 is the isomerohydrolase in the retinoid visual cycle essential for recycling of 11-cis retinal, the chromophore for visual pigments in both rod and cone photoreceptors...
- Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosisGandra Mamatha
Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
Ophthalmic Genet 29:73-8. 2008To determine the frequency of pathogenic mutations in the gene encoding RPE65 in patients from India with Leber congenital amaurosis (LCA).
- Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trialWilliam W Hauswirth
Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
Hum Gene Ther 19:979-90. 2008..One molecular form is caused by mutations in the RPE65 (retinal pigment epithelium-specific 65-kDa) gene...
- Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65Yusuke Takahashi
Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
J Biol Chem 284:3211-8. 2009b>RPE65 is a membrane-associated protein abundantly expressed in the retinal pigment epithelium, which converts all-trans-retinyl ester to 11-cis-retinol, a key step in the retinoid visual cycle...
- Predicting the pathogenicity of RPE65 mutationsA R Philp
Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa
Hum Mutat 30:1183-8. 2009..Eleven missense variations in the RPE65 gene were evaluated in patients with Leber congenital amaurosis (LCA) using the EPP algorithm...
- Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65Olga Nikolaeva
Department of Medicine Endocrinology, Harold Hamm Oklahoma Diabetes Center, The University of Oklahoma Health Sciences Center, 941 Stanton L Young Blvd, BSEB302, Oklahoma City, OK 73104, United States
Biochem Biophys Res Commun 391:1757-61. 2010b>RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments...
- The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosisRichard G Weleber
Oregon Retinal Degeneration Center, Oregon Health and Science University, Portland, OR, USA
Invest Ophthalmol Vis Sci 52:292-302. 2011To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65.
- Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsSamuel G Jacobson
Scheie Eye Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
Arch Ophthalmol 130:9-24. 2012To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene.
- Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitroC P Hamel
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892
J Biol Chem 268:15751-7. 1993..microsomal membranes of the vertebrate retinal pigment epithelium (RPE) contain an RPE-specific 65-kDa protein, RPE65, which bears the determinant recognized by the strictly tissue-specific monoclonal antibody RPE9, and which is ..
- Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 geneF Marlhens
Laboratoire de Neurobiologie de l audition, Plasticité Synaptique, Hopital Gui de Chauliac, Montpellier, France
Eur J Hum Genet 6:527-31. 1998..Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-..
- Clinical course and visual function in a family with mutations in the RPE65 geneJoost Felius
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA
Arch Ophthalmol 120:55-61. 2002To evaluate the phenotype of affected and carrier members of a family with mutations in RPE65 (a retinal pigment epithelium gene).
- RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseasesBiju Joseph
Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai 600 006, India
J Genet 81:19-23. 2002We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients...
- A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvementSara J Bowne
Human Genetics Center, The University of Texas Health Science Center, Houston, TX, USA
Eur J Hum Genet 19:1074-81. 2011..8 Mb region on 1p31. Of 50 known genes in the region, 11 candidates, including RPE65 and PDE4B, were sequenced using di-deoxy capillary electrophoresis...
- Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epitheliumA Nicoletti
Department of Biological Chemistry, University of Michigan, Ann Arbor 48105, USA
Hum Mol Genet 4:641-9. 1995The retinal pigment epithelium (RPE) of the eye expresses an abundant 61 kDa protein (RPE65), that is developmentally regulated and tissue-specific...
- Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patientsFrancesca Simonelli
Department of Ophthalmology, Second University of Naples, Naples, Italy
Invest Ophthalmol Vis Sci 48:4284-90. 2007..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...
- Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutationGeoffrey K Aguirre
Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
PLoS Med 4:e230. 2007b>RPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA)...
- Acute radiolabeling of retinoids in eye tissues of normal and rpe65-deficient miceNasser M Qtaishat
Lions of Illinois Eye Research Institute, Department of Ophthalmology and Visual Sciences, College of Medicine, University of Illinois at Chicago, Chicago, Illinois 60612, USA
Invest Ophthalmol Vis Sci 44:1435-46. 2003Mice with a targeted disruption of the gene encoding RPE65, a protein ordinarily highly expressed in the retinal pigment epithelium (RPE), accumulate abnormally high levels of all-trans retinyl ester in the RPE and exhibit very little 11-..
- Differential neuroglycan C expression during retinal degeneration in Rpe65-/- micePascal Escher
Institute for Research in Ophthalmology, Sion, Switzerland
Mol Vis 14:2126-35. 2008..and CD44 antigen (CD44) has been observed during retinal degeneration in mice with a targeted disruption of the Rpe65 gene (Rpe65-/- mouse)...
- Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) miceCorinne Kostic
Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland
PLoS ONE 6:e16588. 2011..Using the Rpe65(R91W/R91W) mouse, which carries a mutation in the Rpe65 gene leading to progressive photoreceptor degeneration in ..
- Dominant negative p63 isoform expression in head and neck squamous cell carcinomaJoseph C Sniezek
Department of Otolaryngology Head and Neck Surgery, Tripler Army Medical Center, 1 Jarrett White Road, Honolulu, HI 96859 5000, USA
Laryngoscope 114:2063-72. 2004b>p63, a member of the p53 family of genes, is vital for normal epithelial development and may play a critical role in epithelial tumor formation...
- Reconstruction of ionic currents in a molluscan photoreceptorM Sakakibara
Department of Biological Science and Technology, School of High Tecnology for Human Welfare, Tokai University, Shizuoka, Japan
Biophys J 65:519-27. 1993..Based on these reconstructions of ionic currents, learning-induced enhancement of the long lasting depolarization (LLD) of the photoreceptor'slight response was shown to arise from progressive inactivation of /A, lca2+ -K+, and lCa2+.
- Giant cell tumor of bone express p63Brendan C Dickson
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada
Mod Pathol 21:369-75. 2008b>p63 contributes to skeletal development and tumor formation; however, little is known regarding its activity in the context of bone and soft tissue neoplasms...
- Comparison of the basal cell-specific markers, 34betaE12 and p63, in the diagnosis of prostate cancerRajal B Shah
Deparment of Pathology and Urology, University of Michigan School of Medicine and Comprenhensive Cancer Center, Ann Arbor, Michigan 48109, USA
Am J Surg Pathol 26:1161-8. 2002..A recently identified basal cell marker p63, a p53 homologue, stains basal cell nuclei but not secretory cells...
- Expression of p53-related protein p63 in the gastrointestinal tract and in esophageal metaplastic and neoplastic disordersJ N Glickman
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Hum Pathol 32:1157-65. 2001b>p63 is a p53-related DNA-binding protein that helps regulate differentiation and proliferation in epithelial progenitor cells. Its expression has never been evaluated in the human gastrointestinal tract...
- Immunophenotypic overlap between adenoid cystic carcinoma and collagenous spherulosis of the breast: potential diagnostic pitfalls using myoepithelial markersJoseph T Rabban
Department of Pathology, University of California, San Francisco, CA 94143, USA
Mod Pathol 19:1351-7. 2006..The diagnosis may be even more challenging in needle core biopsies. Immunohistochemical expression of p63 and c-kit distinguishes adenoid cystic carcinoma from invasive cribriform carcinoma and ductal carcinoma in situ...
- Assessment of p63 expression in the salivary gland neoplasms adenoid cystic carcinoma, polymorphous low-grade adenocarcinoma, and basal cell and canalicular adenomasPaul C Edwards
Department of Dental Medicine, Division of Oral Pathology, Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 97:613-9. 2004The purpose of this study was to determine the extent of p63 immunoreactivity in the malignant salivary gland neoplasms adenoid cystic carcinoma (ACC) and polymorphous low-grade adenocarcinoma (PLGA) and to compare this to the expression ..
- Gene expression profiling identifies p63 as a diagnostic marker for giant cell tumor of the boneCheng Han Lee
Department of Pathology, Stanford University, Stanford, CA, USA
Mod Pathol 21:531-9. 2008..types, and significance analysis of microarray identified several genes including TP73L (encoding the p63 protein) that are significantly highly expressed in GCTOB relative to these other tumors...
- The use of p63 as an effective immunomarker in the diagnosis of pulmonary squamous cell carcinomas on de-stained bronchial lavage cytological smearsM Uke
Division of Cytology, Tata Memorial Hospital, Mumbai, India
Cytopathology 21:56-63. 2010..Lately, p63 antibody has been used for distinguishing squamous cell carcinoma from SCLC and adenocarcinoma...
- Expression of p63 in anaplastic large cell lymphoma but not in classical Hodgkin's lymphomaGabriela Gualco
Consultoria em Patologia, 18602 010 Botucatu, Sao Paulo, Brazil
Hum Pathol 39:1505-10. 2008Immunohistochemical determination of p63 protein is frequently used in the pathologic diagnosis of nonhematological solid tumors...
- An immunohistochemical study of cervical neuroendocrine carcinomas: Neoplasms that are commonly TTF1 positive and which may express CK20 and P63W Glenn McCluggage
Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland
Am J Surg Pathol 34:525-32. 2010..Cases were stained with AE1/3, chromogranin, CD56, synaptophysin, PGP9.5, TTF1, p16, p63, CK7, CK20, neurofilament, and CD99...
- Identification of a KRAB-zinc finger protein binding to the Rpe65 gene promoterZhongjian Lu
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute NIH, 7 Memorial Drive, Bethesda, MD 20892, USA
Curr Eye Res 31:457-66. 2006We wish to identify transcriptional factors involved in regulation binding to the proximal promoter region of the RPE65 gene that confers RPE-specific expression.
- S-opsin protein is incompletely modified during N-glycan processing in Rpe65(-/-) miceKota Sato
Department of Biochemistry and Biotechnology, Division of Cell Technology, Faculty of Agriculture and Life Science, Hirosaki University, 3 Bunkyo cho, Aomori 036 8561, Japan
Exp Eye Res 91:54-62. 2010Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a key enzyme for the visual cycle in the eye. Rpe65(-/-) mice lack 11-cis-retinal, and show early cone degeneration and mislocalization of cone opsins...
- p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven
Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 69:481-92. 2001b>p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM)...
- p63 expression in normal skin and usual cutaneous carcinomasJorge S Reis-Filho
IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Portugal
J Cutan Pathol 29:517-23. 2002b>p63 is a p53 homologue that is mapped to chromosome 3q27. This gene encodes six different isoforms, which have either transactivating or dominant negative effects on p53-reporter genes...
- Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degenerationSéverine Hamann
IRO, Institute for Research in Ophthalmology, Sion, Switzerland
PLoS ONE 4:e6616. 2009Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages...
- Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial cleftsL L Barrow
Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
J Med Genet 39:559-66. 2002..EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families...
- Claudin-1 is a p63 target gene with a crucial role in epithelial developmentTeresa Lopardo
Department of Biomolecular Sciences and Biotechnology, University of Milan, Milan, Italy
PLoS ONE 3:e2715. 2008..b>p63 is a transcription factor essential for proliferation of stem cells and for stratification in epithelia, mutated in ..
- Immunohistochemical detection of GLUT1, p63 and phosphorylated histone H1 in head and neck squamous intraepithelial neoplasia: evidence for aberrations in hypoxia-related, cell cycle- and stem-cell-regulatory pathwaysD E Burstein
Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029, USA
Histopathology 48:708-16. 2006..Detection and grading of early squamous intraepithelial neoplasia may at times be problematic. The aim of this study was to examine the ability of immunomarkers GLUT1, phospho-histone H1 and p63 to detect such early lesions.
- Downregulation of p63 upon exposure to bile salts and acid in normal and cancer esophageal cells in cultureSabine Roman
Digestive Physiology, Pavillon H, Hopital Edouard Herriot, Place d Arsonval, 69437 Lyon Cedex 03, France
Am J Physiol Gastrointest Liver Physiol 293:G45-53. 2007b>p63 is a member of the p53 protein family that regulates differentiation and morphogenesis in epithelial tissues and is required for the formation of squamous epithelia...
- Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epitheliumM L Katz
University of Missouri School of Medicine, Mason Eye Institute, Columbia 65212, USA
Invest Ophthalmol Vis Sci 42:3023-30. 2001..In mice without a functional Rpe65 gene, isomerization of all-trans- to 11-cis-retinol is blocked...
- Partial atrophy on prostate needle biopsy cores: a morphologic and immunohistochemical studyWenle Wang
Department of Pathology, The John Hopkins Medical Institutions, Baltimore, MD 21231, USA
Am J Surg Pathol 32:851-7. 2008..sent to our consultation service in 2006 from a single institution, which frequently uses a triple cocktail stain [p63, high molecular weight cytokeratin (HMWCK), alpha-methyl acyl-Coa racemase (AMACR)]...
- Immunohistochemical detection of XIAP and p63 in adenomatous hyperplasia, atypical adenomatous hyperplasia, bronchioloalveolar carcinoma and well-differentiated adenocarcinomaMaoxin Wu
1Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
Mod Pathol 21:553-8. 2008..inhibitor of apoptosis protein (XIAP), the most potent of the inhibitor of apoptosis protein (IAP) family, and p63, a marker of bronchial reserve cells (BRC) and squamous cells, in these entities...
- P63 and cytokeratin8/18 expression in breast, atypical ductal hyperplasia, ductal carcinoma in situ and invasive duct carcinomaMaha M Shamloula
The Department of Pathology, Faculty of Medicine, Tanta University
J Egypt Natl Canc Inst 19:202-10. 2007Background and Purpose : The pattern and distribution of p63 expression as a myoepithelial/basal stem cell marker can be different between atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (..
- Inhibition of epidermal growth factor receptor signaling decreases p63 expression in head and neck squamous carcinoma cellsKeith E Matheny
Vanderbilt Bill Wilkerson Department of Otolaryngology Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Laryngoscope 113:936-9. 2003Both the epidermal growth factor receptor (EGFR) and the p53 homologue p63 are overexpressed in a significant number of cases of head and neck squamous cell carcinoma (HNSCC)...
- Expression of p63 in conjunctival intraepithelial neoplasia and squamous cell carcinomaClaudia Auw-Haedrich
Eye Hospital, Albert Ludwigs University, 79106 Freiburg, Germany
Graefes Arch Clin Exp Ophthalmol 244:96-103. 2006b>p63 is a homologue of the tumour suppressor gene p53, which is expressed in human basal squamous epithelium...
- Expression of p63 differs in peritoneal endometriosis, endometriomas, adenomyosis, rectovaginal septum endometriosis, and abdominal wall endometriosisOmero B Poli Neto
Department of Surgery, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil
Arch Pathol Lab Med 131:1099-102. 2007..One protein that plays an important role in regulating epithelial proliferation and differentiation is the 63-kDa membrane protein (p63), which is also a marker of basal and reserve cells in the female genital tract.
- p63 promotes cell survival through fatty acid synthaseVenkata Sabbisetti
Department of Pathology, Brigham and Women s Hospital, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
PLoS ONE 4:e5877. 2009There is increasing evidence that p63, and specifically DeltaNp63, plays a central role in both development and tumorigenesis by promoting epithelial cell survival...
- Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosaNan Kai Wang
Department of Ophthalmology, Columbia University, New York City, NY, USA
Transplantation 89:911-9. 2010To study whether C57BL/6J-Tyr/J (C2J) mouse embryonic stem (ES) cells can differentiate into retinal pigment epithelial (RPE) cells in vitro and then restore retinal function in a model for retinitis pigmentosa: Rpe65/Rpe65 C57BL6 mice.
- Diagnostic utility of immunohistochemical staining for p63, a sensitive marker of prostatic basal cellsMichael H Weinstein
Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts, USA
Mod Pathol 15:1302-8. 2002..Thus, a second method of identifying basal cells might prove useful. Selective expression of p63, a homologue of p53, has been demonstrated in prostatic basal cells...
- Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and agingBaerbel Rohrer
Department of Ophthalmology Medical University of South Carolina, 167 Ashley Avenue, Charleston, SC 29425, USA
Invest Ophthalmol Vis Sci 44:310-5. 2003b>RPE65 has been shown to be essential for the production of 11-cis retinal by the retinal pigment epithelium. Mutations in RPE65 are known to be associated with severe forms of early-onset retinal dystrophy...
- Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65Birgit Lorenz
Department of Paediatric Ophthalmology and Ophthalmogenetics, University of Regensburg, Germany
Ophthalmology 111:1585-94. 2004..Alteration in autofluorescence reflects changes in lipofuscin content of the RPE. Mutations on both alleles of RPE65 result in absent or largely decreased formation of rhodopsin, due to a defect in all-trans retinol isomerization ..
- Expression of the p63 and Notch signaling systems in rat testes during postnatal development: comparison with their expression levels in the epididymis and vas deferensTetsuo Hayashi
Department of Urology, Saitama Medical Center, Saitama Medical School, 1981 Tsujido, Kamoda, Kawagoe, Saitama 350 8550, Japan
J Androl 25:692-8. 2004..A member of the p53 family of genes, p63, is highly expressed in the basal layers of epithelial tissues and plays a key role in maintaining their cell ..
- Cytology applications of p63 and TTF-1 immunostaining in differential diagnosis of lung cancersMaoxin Wu
Division of Cytopathology, Department of Pathology, Mount Sinai School of Medicine, New York, New York, USA
Diagn Cytopathol 33:223-7. 2005..We have demonstrated the role of p63 and thyroid transcription factor-1 (TTF-1) in the differential diagnosis of poorly differentiated squamous-cell ..
- Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosisJi Jing Pang
Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
Mol Ther 13:565-72. 2006Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a protein responsible for isomerization of all-trans-retinaldehyde to its photoactive 11-cis-retinaldehyde and is essential for the visual cycle...
- [Detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer]Tao Yu
Department of Urology, Union Hospital Affiliated to Fujian Medical University, Fuzhou, Fujian 350001, China
Zhonghua Nan Ke Xue 13:222-5. 2007To investigate the value of detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer (PCa).
- Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defectsNadia Lo Iacono
Dulbecco Telethon Institute, Molecular Biotechnology Center, University of Torino, Via Nizza 52, Torino, 10126, Italy
Development 135:1377-88. 2008..SHFM-IV and Ectrodactyly-Ectodermal dysplasia-Cleft lip (EEC) are caused by mutations in p63, an ectoderm-specific p53-related transcription factor...
- p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissueBonnie J Ching
Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA
Int J Mol Med 26:861-7. 2010..Several lines of evidence implicate genetic factors in the formation of BEEC. Among them a murine p63+/+ knockout model showed the full picture of classic exstrophy of the bladder and other urogenital defects within ..
- p53FamTaG: a database resource of human p53, p63 and p73 direct target genes combining in silico prediction and microarray dataElisabetta Sbisà
Istituto di Tecnologie Biomediche Sede di Bari, CNR, Via Amendola, 122 D 70126 Bari, Italy
BMC Bioinformatics 8:S20. 2007The p53 gene family consists of the three genes p53, p63 and p73, which have polyhedral non-overlapping functions in pivotal cellular processes such as DNA synthesis and repair, growth arrest, apoptosis, genome stability, angiogenesis, ..
- p63 expression in benign and malignant breast lesionsD Stefanou
Department of Pathology, University of Ioannina Medical School, Ioannina, Greece
Histol Histopathol 19:465-71. 2004The p63 gene encodes six protein isoforms. The transactivating isoforms have similar actions with p53, while the N-isoforms inhibit transcription activation by p53 and transactivating isoforms...
- Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycleT Michael Redmond
Laboratory of Retinal Cell and Molecular Biology and Biological Imaging Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 0706, USA
Proc Natl Acad Sci U S A 102:13658-63. 2005b>RPE65 is essential for isomerization of vitamin A to the visual chromophore...
- Origin of the vertebrate visual cycle: III. Distinct distribution of RPE65 and beta-carotene 15,15'-monooxygenase homologues in Ciona intestinalisNoriko Takimoto
Department of Life Science, Graduate School of Life Science, University of Hyogo, 3 2 1 Kouto, Kamigori, Ako gun, Hyogo 678 1297, Japan
Photochem Photobiol 82:1468-74. 2006..In the present study, we investigated the possible role and evolutionary origin of the BCO/RPE65 family in the visual cycle by analyzing Ci-BCO localization by immunohistochemistry and by identifying a novel ..
- Quantitative mapping of ion channel regulation by visual cycle activity in rodent photoreceptors in vivoBruce A Berkowitz
Department of Anatomy and Cell Biology, Wayne State University, Detroit, Michigan 48201, USA
Invest Ophthalmol Vis Sci 50:1880-5. 2009..To test the hypothesis that the extent of outer retina uptake of manganese, measured noninvasively with manganese-enhanced MRI (MEMRI), is a quantitative biomarker of photoreceptor ion channel regulation by visual cycle activity...
- Cone outer segment morphology and cone function in the Rpe65-/- Nrl-/- mouse retina are amenable to retinoid replacementKannan Kunchithapautham
Department of Neurosciences, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29425, USA
Invest Ophthalmol Vis Sci 50:4858-64. 2009b>RPE65, a major retinal pigment epithelium protein, is essential in generating 11-cis retinal, the chromophore for all opsins. Without chromophore, cone opsins are mislocalized and cones degenerate rapidly (e.g., Rpe65(-/-) mouse)...
- Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutantA Bellomaria
Dipartimento di Scienze e Tecnologie Chimiche, University of Rome Tor Vergata, Italy
Cell Cycle 9:3730-9. 2010The E3 ubiquitin ligase Itch mediates the degradation of the p63 protein. Itch contains four WW domains which are pivotal for the substrate recognition process...
- Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effectG D Aguirre
James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 6401, USA
Mol Vis 4:23. 1998To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the ..
- Reassessment of the subcellular localization of p63A Schweizer
Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
J Cell Sci 108:2477-85. 1995b>p63 is a type II integral membrane protein that has previously been suggested to be a resident protein of a membrane network interposed between the ER and the Golgi apparatus...
- Increased expression of p63 and survivin in cholesteatomasH R Park
Department of Pathology, College of Medicine, Hallym University Sacred Heart Hospital, 896 Pyungchon Dong, Anyang, Korea
Acta Otolaryngol 129:268-72. 2009This study showed increased expression of p63 and survivin in cholesteatoma. Our finding indicates a putative role of p63 and survivin in the development of certain cholesteatomas.
- Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosisXia Li
School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, People s Republic of China
Invest Ophthalmol Vis Sci 52:7-15. 2011b>RPE65 function is necessary in the retinal pigment epithelium (RPE) to generate chromophore for all opsins. Its absence results in vision loss and rapid cone degeneration...
- Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosisSamuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
Hum Gene Ther 17:845-58. 2006..Leber congenital amaurosis (LCA) is a molecularly heterogeneous disease group that leads to blindness. LCA caused by RPE65 mutations has been studied in animal models and vision has been restored by subretinal delivery of AAV-RPE65 ..
- The expression and diagnostic utility of p63 in the female genital tractOisin Houghton
Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland
Adv Anat Pathol 16:316-21. 2009b>p63 plays a key role in epithelial development in various organs, being expressed in myoepithelial cells and in basal cells of stratified epithelia...
- Cloning and expression of the chick p63 geneA Yasue
Department of Biological Science and Technology, Faculty of Engineering, The University of Tokushima, 2 1 Minami Jyosanjima cho, Tokushima City 770 8506, Japan
Mech Dev 100:105-8. 2001We have isolated a chick cDNA for p63, a member of the p53 transcription factor family. This cDNA encodes a protein of 582 amino acids for an alpha isoform in the C-terminal region, while lacking the N-terminal transactivation domain...
- Expression of p53 and its homologues in primary and recurrent squamous cell carcinomas of the head and neckAnette Weber
Department of Otorhinolaryngology, Head and Neck Surgery, University of Leipzig, Leipzig, Germany
Int J Cancer 99:22-8. 2002The tumour-suppressor protein p53 belongs to a family that includes 2 structurally related proteins, p63 and p73...
- Basaloid squamous carcinoma of the anal canal with an adenoid cystic pattern: histologic and immunohistochemical reappraisal of an unusual variantRunjan Chetty
Department of Pathology, University Health Network, University of Toronto, Toronto, Ontario, Canada
Am J Surg Pathol 29:1668-72. 2005..The tumor cells exhibited diffuse nuclear positivity with p63. The eosinophilic basement membrane hyaline material was positive for collagen type IV and also for laminin...
- p63 induces key target genes required for epidermal morphogenesisMaranke I Koster
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA
Proc Natl Acad Sci U S A 104:3255-60. 2007Mice lacking p63, a single gene that encodes a group of transcription factors that either contain (TA) or lack (DeltaN) a transactivation domain, fail to develop stratified epithelia as well as epithelial appendages and limbs...
- Insulin-like growth factor-binding protein contributes to the proliferation of less proliferative cells in forming skin equivalentsDong Seok Kim
Department of Biochemistry, College of Medicine, Chung Ang University, Seoul, Korea
Tissue Eng Part A 15:1075-80. 2009..Thus, the SEs with IGFBP-2 showed almost the same morphology of the SEs using DSCs. Further, p63, a putative keratinocyte stem cell marker, was more frequently observed in the basal layer of SE with IGFBP-2...
- Loss of the p53/p63 regulated desmosomal protein Perp promotes tumorigenesisVERONICA G BEAUDRY
Department of Radiation Oncology, Division of Radiation and Cancer Biology, Stanford University School of Medicine, Stanford, California, USA
PLoS Genet 6:e1001168. 2010..the consequences of desmosome loss for carcinogenesis by analyzing conditional knockout mice lacking Perp, a p53/p63 regulated gene that encodes an important component of desmosomes...
- Caspase-1 is a novel target of p63 in tumor suppressionI Celardo
Medical Research Council, Toxicology Unit, Leicester University, Leicester, UK
Cell Death Dis 4:e645. 2013b>p63 is a p53 family transcription factor, which besides unique roles in epithelial development, shares tumor suppressive activity with its homolog p53...
- Immunohistochemical profile of the penile urethra and differential expression of GATA3 in urothelial versus squamous cell carcinomas of the penile urethraAlcides Chaux
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 31231, USA Office of Scientific Research, Norte University, 1614 Asunción, Paraguay Electronic address
Hum Pathol 44:2760-7. 2013..The purposes of this study are to assess the histology and immunohistochemical profile (CK20, CK7, p63, and GATA3) of the penile urethra and to assess the usefulness of Trans-acting T-cell-specific transcription factor ..
- Lung cancer histologic and immunohistochemical heterogeneity in the era of molecular therapies: analysis of 172 consecutive surgically resected, entirely sampled pulmonary carcinomasAnnamaria Cadioli
Department of Diagnostic Laboratories, Operative Unit of Pathologic Anatomy, Azienda Policlinico, University of Modena and Reggio Emilia, Modena Department of Oncology and Advanced Technology, Operative Unit of Pathologic Anatomy, Azienda Arcispedale S Maria Nuova Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Reggio Emilia Operative Unit of Pathologic Anatomy, Hospital Morgagni Pierantoni, Forli, Italy Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, AZ
Am J Surg Pathol 38:502-9. 2014..was also assessed using a panel of markers of adenocarcinoma (TTF-1, napsin, and CK7), squamous cell carcinoma (p63, CK5/6), and neuroendocrine differentiation (chromogranin and synaptophysin), both on positive biopsies and ..
- The diverse oncogenic and tumour suppressor roles of p63 and p73 in cancer: a review by cancer sitePaulina Orzol
Masaryk Memorial Cancer Institute, Regional Centre for Applied Molecular Oncology, Brno, Czech Republic
Histol Histopathol 30:503-21. 2015b>p63 and p73, the two other members of the p53 family, were identified almost 15 years ago. Here, we review their potential use for diagnosis, prognosis and prediction of response to therapy in various cancers...
- Fabrication of Large Size Ex Vivo-Produced Oral Mucosal Equivalents for Clinical ApplicationHiroko Kato
1 Department of Oral and Maxillofacial Surgery, University of Michigan Health System, Ann Arbor, Michigan
Tissue Eng Part C Methods 21:872-80. 2015..Histologically, keratinocyte progenitor (p63), proliferation (Ki-67), and late differentiation marker (filaggrin) expression showed differences correlating with ..
- Myoepithelial differentiation in cribriform, tubular and solid pattern of adenoid cystic carcinoma: A potential involvement in histological grading and prognosisFei Du
Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Avenue Zhongguancun, Haidian District, Beijing 100081, PR China
Ann Diagn Pathol 22:12-7. 2016..A panel of myoepithelial markers including CK5/6, p63, p40, D2-40, calponin, α-SMA, S-100, and vimentin, together with a luminal cell marker CK7, and Ki-67 were used ..
- Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dogKristina Narfstrom
Vision Science Group, Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri Columbia, Columbia, Missouri 65211, USA
Invest Ophthalmol Vis Sci 44:1663-72. 2003To assess the efficacy of AAV-mediated gene therapy to restore vision in a large number of RPE65(-/-) dogs and to determine whether systemic and local side effects are caused by the treatment.
- Adenoid cystic/basal cell carcinoma of the prostate: clinicopathologic findings in 19 casesKenneth A Iczkowski
Veterans Affairs Medical Center, and Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, FL 32608 1197, USA
Am J Surg Pathol 27:1523-9. 2003..Five cases had prominent perineural invasion. ACBCC was immunoreactive for p63 and cytokeratins 7 and 34 beta E12 but not cytokeratin 20...
- Genome organization and expression of the Penicillium stoloniferum virus FJong Wook Kim
Department of Biochemistry, College of Medicine, Inha University, 253 YoungHyun Dong, Nam Ku, Incheon 402 751, Korea
Virus Genes 31:175-83. 2005..length, and it contained one open reading frame (ORF) of 538 amino acids (molecular weight of 63 kDa, referred to P63), The F2 dsRNA was 1500 by in length, and also it contained one ORF of 420 amino acids (molecular weight of 46 kDa, ..
- A subset of prostate basal cells lacks the expression of corresponding phenotypic markersYan Gao Man
Department of Gynecologic and Breast Pathology, Armed Forces Institute of Pathology and American Registry of Pathology, Washington DC 20306 6000, USA
Pathol Res Pract 202:651-62. 2006..34ssE12, these basal cells also completely lacked the expression of other phenotypic markers, including CK5, CK14, p63, and maspin, in contrast to adjacent basal cells, which were strongly positive for these markers...
- A new mutation in TP63 is associated with age-related pathologyMuriel Holder-Espinasse
Service de génétique clinique, Hopital Jeanne de Flandre, CHRU, Lille, France
Eur J Hum Genet 15:1115-20. 2007..TP63 has not yet been implicated in early aging phenotype in humans, even though p63 activates a program of cellular senescence and p63-compromised mice display features of accelerated aging...
- Hay-Wells syndrome in a child with mutation in the TP73L geneNatalie Garcia Bartels
Department of Dermatology and Allergy, Charite Universitatsmedizin Berlin, Germany
J Dtsch Dermatol Ges 5:919-23. 2007..In this boy, a mutation Ile537Thr (c.1610C>T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected...
- Identification of flotillin-2, a major protein on lipid rafts, as a novel target of p53 family membersYasushi Sasaki
Department of Molecular Biology, Cancer Research Institute, Sapporo Medical University, Chuo Ku, Sapporo, 060 8556 Japan
Mol Cancer Res 6:395-406. 2008p73 and p63 are members of the p53 gene family and have been shown to play an important role in development and homeostasis mainly by regulating the transcription of a variety of genes...
- Luis Alfonso Martinez; Fiscal Year: 2016..the first involves the physical inactivation of other tumor suppressor proteins such as its family members, p63 and p73, and the other is dependent on its ability to regulate gene expression...
- Mechanism of p63-Dependent Tumor SuppressionXinbin Chen; Fiscal Year: 2012DESCRIPTION (provided by applicant): P63 is a member of the p53 family. When the upstream promoter is used for p63 expression, three major TAp63 isoforms, TAp63a, TAp63[unreadable], and TAp63?, are produced...
- Xinbin Chen; Fiscal Year: 2015..tumor burdens and metastasis rates, which are compounded in mice harboring heterozygous alleles of p53 and/or p63. However, p73 is not a classic tumor suppressor since mutant mice are also prone to developmental defects, chronic ..
- P63/IGFBP3/BCL2 Control of Corneal Epithelial HomeostasisDanielle M Robertson; Fiscal Year: 2011....
- Guy Howard; Fiscal Year: 2015..Data shows that p63, a member of the p53 family of transcription factors, plays a major role in the cooperative actions of HGF and 1,..
- REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMISDENNIS ROOP; Fiscal Year: 2010..We have recently demonstrated that the transcription factor p63 is the molecular switch for initiation of the epidermal stratification program...
- Takeshi Kurita; Fiscal Year: 2014..demonstrated that developmental exposure to DES induces cervical/vaginal adenosis by disrupting expression of p63 transcription factor, which is essential for development of squamous epithelia...
- Rose Anne Romano; Fiscal Year: 2015..sequencing data emerging from the Cancer Genome Atlas Project, strongly suggest that the transcription factor p63, specifically the most prevalent Np63 isoforms, function as an oncogene in the early stages of SCC development...
- Satrajit Sinha; Fiscal Year: 2014..This is epitomized by the striking phenotype of the p63 knockout mice, which lack a mature stratified epidermis and exhibit a block in development of multiple ectodermal ..
- Maranke I Koster; Fiscal Year: 2015DESCRIPTION (provided by applicant): The p63 gene encodes several transcription factors that are required for normal development and homeostasis of the skin and its appendages...
- KEVIN MATTHEW CURTIS; Fiscal Year: 2015..During murine development, the transcription factor p63 is required for skeletal formation, and our recent work demonstrated that p63 is integral for hepatocyte growth ..
- James E Schwob; Fiscal Year: 2016..Recently, we have shown that the transcription factor p63 is key to HBC differentiation and regeneration...
- JOHN J NGAI; Fiscal Year: 2015..In this application we propose to investigate the role of the transcription factor p63 - a member of the p53 family of tumor suppressors - in olfactory stem cell regulation...
- Carol Prives; Fiscal Year: 2015..an interdisciplinary and collaborative approach to understand the roles of mutant p53, p53 family member's p63 and p73 and new tumor suppressor genes in cancer...
- Novel Genetic Approach To Isolate Stem Cells Of The Oral CavitySatrajit Sinha; Fiscal Year: 2012..Recent studies have offered compelling evidence in support of the transcription factor p63, particularly the ?Np63 isoform, to be highly expressed in the stem cell compartment of the stratified squamous ..
- Olfactory Epithelial Stem Cell Regulation by the Transcription Factor p63Nikolai Schnittke; Fiscal Year: 2013..The transcription factor p63, a member of the p53 family, is necessary for the embryonic appearance of HBCs and loss of p63 expression in the ..
- Functional analysis of the p53 tumor suppressorMoshe Oren; Fiscal Year: 2012..genes in a manner leading to transcriptional silencing, explore the possibility that dominant negative forms of p63, a p53 family member, are responsible for the failure of p53 to function as an effective tumor suppressor in some ..
- Cellular and molecular biology of lung surfactantAron B Fisher; Fiscal Year: 2013..This project provides novel information on P63 as a biologically-relevant SP-A receptor...
- MOLECULAR PROGRESSION MODEL FOR HNSCCDavid Sidransky; Fiscal Year: 2012..Specific tumor suppressor genes, including p14 and p16, and proto-oncogenes, including p63, have been identified as critical in oral cancer development...
- ANIL KUMAR JAISWAL; Fiscal Year: 2015..that NQO1 and NQO2 stabilization of tumor suppressor p53 against 20S proteasome degradation and down regulation of p63 and MAPK pathway contributed to carcinogenesis...
- John C Schimenti; Fiscal Year: 2016..We also found that both programmed and induced DSBs trigger CHK2-dependent phosphorylation of p63 (TRP63) in diplotene oocytes...
- Role of PUMA in EGFR targeted therapy in HNSCCJian Yu; Fiscal Year: 2012..Furthermore, EGFR TKIs induce PUMA through the effects on the p53 family members p63 and p73, but not p53 itself...
- Novel Vaginal Microbicides Based On Stable AAV-Neutralizing Antibody Gene TransfeWayne A Marasco; Fiscal Year: 2010..comprising endocervical, ectocervical and vaginal epithelial cells with special focus on stable gene transfer into p63+CK17+epithelial stem cells which are capable of renewing stratified epithelium...
- Madhavi P Kadakia; Fiscal Year: 2016..We have previously shown that VDR is positively regulated by the most abundant and physiologically relevant p63 isoform, [unreadable]Np63a...
- The role of p63 and p73 in cancerUTE MARTHA MOLL; Fiscal Year: 2012Title: the Role of p63 and p73 in Cancer PI: Ute M. Moll, M.D. Abstract p53 controls a powerful stress response and is a quintessential tumor suppressor...
- Muna I Naash; Fiscal Year: 2016..functional rescue in mouse models of retinitis pigmentosa (RP, Rds+/-), Leber's congenital amaurosis (LCA, Rpe65-/-), and Stargardt's disease (STGD1, Abca4-/-)...
- Jennifer A Pietenpol; Fiscal Year: 2014Although the pivotal role of p53 in tumor suppression remains unchallenged, the role of its family members, p63 and p73 in normal cell function and tumorigenesis is far from certain...
- Osteosarcoma Translational ResearchQiping Zheng; Fiscal Year: 2013..data from the principal investigator's group have shown that transgenic mice overexpressing Runx2 or P63 in hypertrophic chondrocytes result in delayed or accelerate chondrocyte maturation respectively...
- Sheida Nabavi; Fiscal Year: 2014..The recent discovery of the p63/p73 expression, p53 mutation and measurements of DNA repair status effects on the sensitivity to cisplatin in TNBC ..
- Topical delivery of nanoencapsulated plasmid DNA to posterior ocular targetsGretchen M Unger; Fiscal Year: 2012..LCA2 mouse models are useful because they have severe vision deficits due to simple lack of a single gene product (RPE65), yet they have delayed morphological degeneration...
- Elsa R Flores; Fiscal Year: 2015..The functions of p63, a p53 family member, are beginning to be understood in contexts in which p53 function has been well established, ..
- MARIA BARTOLOMEO GRANT; Fiscal Year: 2016..To address these limitations, we have made a number of exciting discoveries: 1) forced expression of the RPE65 gene allows mouse hematopoietic stem cells (mHSC), when injected back into the circulation, to home to the retina ..
- Masahiro Kono; Fiscal Year: 2014..In Leber Congenital Amaurosis type 2 (LCA2), generation of the native chromophore of visual pigments (11-cis retinal) is inhibited...
- Gabriel H Travis; Fiscal Year: 2016..The rate of retinol isomerization by DES1 is 300-fold faster than the rate of isomerization catalyzed by Rpe65 of the RPE Visual Cycle...
- SAMUEL GREGORY JACOBSON; Fiscal Year: 2014..gene delivery to the retina of patients with blindness from Leber congenital amaurosis (LCA) and mutations in the RPE65 (retinal pigment epithelium-specific protein 65-kDa) gene...
- p63-Dependent Checkpoints in OocytesFrank D McKeon; Fiscal Year: 2010..How DNA damage triggers the death of these arrested oocytes is poorly understood but we now know that p63, a homolog of the p53 tumor suppressor, is highly expressed in these oocytes and plays an essential role in their ..
- Geoffrey Karl Aguirre; Fiscal Year: 2015..In a population of patients with blindness from RPE65-LCA, we will further determine which of these measures are modified by successful retinal gene therapy to restore ..
- Mechanisms of Delta-N-p63-alpha transcriptional repression and its role in squamoCORRIE LYNN GALLANT-BEHM; Fiscal Year: 2013....
- Leif W Ellisen; Fiscal Year: 2015..Cell Carcinoma (HNSCC) and related cancers, by understanding the function and regulation of the p53 family members p63 and p73. The p53 family of proteins plays a key role in the pathogenesis of HNSCC...
- Chromophore Effects in Genetically Diverse Forms of Retinal DystrophyDebra A Thompson; Fiscal Year: 2010..In individuals with mutations in the retinoid isomerase gene RPE65, compelling outcomes were obtained using gene therapy approaches that increase retina levels of the chromophore 11-..
- Jijing Pang; Fiscal Year: 2014..the IV injection option is based on recently published results for 15 patients from the current NEI sponsored LCA2 clinical trial (NCT00481546)...
- Sabina Signoretti; Fiscal Year: 2014..The p63 gene is selectively expressed in basal cells of various epithelia and is required for epithelial development...
- Phase 1/2 Trial of rAAV2-CB-hRPE65 (BB-IND 13848, 11 Sep 2009) for Leber CongenitJeffrey D Chulay; Fiscal Year: 2013..approximately 8 to 10% are caused by mutations in a gene encoding a retinal pigment epithelium-specific 65 kDa (RPE65) protein...
- Role of p53 homologs in DNA repair in human keratinocytesDennis H Oh; Fiscal Year: 2013..current award period has documented that keratinocytes require loss of both p53 and another member of the family-p63-before repair is compromised...
- JOHANNES FRIEDERICH VONLINTIG; Fiscal Year: 2016..key recycling reaction, namely trans-to-cis isomerization, depends on the retinal pigmented epithelium protein, RPE65. Mutations in RPE65 lead to a spectrum of retinal dystrophies ranging from Leber congenital amaurosis (LCA) to ..
- A novel mouse prostate carcinogenesis model for dietary cancer prevention researcChung S Yang; Fiscal Year: 2013..NF-kB and CD45), and oxidative stress (8-OHdG and -H2AX), as well as the expression of GSTP1, E-cadherin, COX-2, p63, p27, Pten, Nkx3.1, p16, and Bcl-2 by immunohistochemistry (IHC)...
- Eric A Pierce; Fiscal Year: 2016..patients'IRD has become especially important with the recent success of clinical trials of gene therapy for RPE65 Leber congenital amaurosis (LCA)...
- Minghao Jin; Fiscal Year: 2015..We have identified RPE65, a retinal pigment epithelium (RPE) specific membrane-associated protein, as the retinoid isomerase...
- Simon Petersen-Jones; Fiscal Year: 2016..use a number of biophysical and biochemical techniques to characterize the structure and catalytic mechanism of RPE65, the enzyme responsible for transforming all-trans-retinyl esters to 11-cis-retinol...
- Yingbin Fu; Fiscal Year: 2016DESCRIPTION (provided by applicant): Retinoid isomerase, RPE65, and Lecithin-retinol acyltransferase (LRAT) are important in recycling 11-cis- retinal in retinal pigment epithelium (RPE)...
- Jian Xing Ma; Fiscal Year: 2015..b>RPE65 is a membrane-associated protein predominantly expressed in the retinal pigment epithelium (RPE)...
- Longitudinal Neuroimaging of Leber's Congenital Amaurosis After Gene TherapyManzar Ashtari; Fiscal Year: 2012..LCA2 is the form of LCA caused by RPE65 mutations, a form which has been amenable to gene augmentation therapy in both animals and humans...
- William A Beltran; Fiscal Year: 2016..The research studies described in this proposal represent a continuation of a longstanding collaboration between the module scientists that already has brought retinal gene therapy for RPE65-LCA patients to a Phase I clinical trial.
- Weidong Xiao; Fiscal Year: 2016..Recombinant AAV vectors delivering RPE65 gene have been demonstrated to cure Leber's congenital amaurosis (LCA) disease and patients are able to ..
- William A Beltran; Fiscal Year: 2016..of a longstanding collaboration between the module scientists that already has brought retinal gene therapy for RPE65-LCA patients to a Phase I clinical trial...
- Xinbin Chen; Fiscal Year: 2016..e., p63 and p73), which would then enhance gain of function for these p53 mutants...
- Weidong Xiao; Fiscal Year: 2014..In clinical trial, rAAV vectors delivering RPE65 gene have been demonstrated to cure Leber's congenital amaurosis (LCA) diseases and patients are able to ..
- Laimonis A Laimins; Fiscal Year: 2014..Additional important activities identified for E6 include blocking of p300 acetylation of p53 and activation of p63 upon differentiation...
- Alexander I Zaika; Fiscal Year: 2016..p53 protein has been relatively well characterized, less is known about other members of the p53 family, p73 and p63. Accumulating evidence suggest that p73 and p63 significantly affect the p53 activity and function in concert with ..
- Cytoplasmic Reactivation of p53 Family MembersCharles Walker; Fiscal Year: 2004..leukemia in the soft-shell clam, Mya arenaria, in which clam homologs that we have identified for human p53 and p63/73 proteins are rendered non-functional by their sequestration in the cytoplasm of leukemic clam hemocytes...
- Retinyl Ester Binding Proteins and the Visual CycleRobert Rando; Fiscal Year: 2007..Mutations in RPE65 are known to cause a form of retinyl degeneration. It is only the membrane associated form (mRPE65) which stereospecifically binds tREs and the soluble form of this protein (sRPE65) is shown to stereospecifically ..
- Novel Vaginal Microbicides Based On Stable AAV-Neutralizing Antibody Gene TransfeWayne Marasco; Fiscal Year: 2009..comprising endocervical, ectocervical and vaginal epithelial cells with special focus on stable gene transfer into p63+CK17+epithelial stem cells which are capable of renewing stratified epithelium...
- RETINAL PATHOPHYSIOLOGY OF INFANTS AND ADULTSDavid Birch; Fiscal Year: 2005..As in the abcr-/- and rpe65-/- models, these studies should help clarify the underlying defect and lead to pharmaceutical interventions...
- Biochemical and Genetic Analysis of the Visual CycleGABRIEL TRAVIS; Fiscal Year: 2009..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...
- RETINAL GENE DELIVERY BY ADENO-ASSOCIATED VIRUSWilliam Hauswirth; Fiscal Year: 2009..disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..
- Cytokines Stimulate Prostate Epithelial ProliferationWade Bushman; Fiscal Year: 2009..and demonstrate that these inflammatory mediators promote epithelial growth and a selective expansion of p63+ epithelial cells...