Genomes and Genes
Gene Symbol: BAP1
Description: BRCA1 associated protein 1
Alias: HUCEP-13, UCHL2, hucep-6, ubiquitin carboxyl-terminal hydrolase BAP1, BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase), cerebral protein 6, cerebral protein-13
Publications205 found, 100 shown here
- BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localizationKaren H Ventii
Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
Cancer Res 68:6953-62. 2008BRCA1-associated protein-1 (BAP1), a deubiquitinating enzyme of unknown cellular function, is mutated in breast and lung cancers...
- BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppressionD E Jensen
The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
Oncogene 16:1097-112. 1998We have identified a novel protein, BAP1, which binds to the RING finger domain of the Breast/Ovarian Cancer Susceptibility Gene product, BRCA1...
- BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activityHiroyuki Nishikawa
Division of Breast and Endocrine Surgery, Institute of Advanced Medical Science, and Department of Radiology, St Marianna University School of Medicine, Kawasaki, Japan
Cancer Res 69:111-9. 2009..BRCA1-associated protein 1 (BAP1) is a ubiquitin COOH-terminal hydrolase that was initially identified as a protein that bound to the RING finger ..
- Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1Shahram Misaghi
Department of Physiological Chemistry, Genentech, Inc, 1 DNA Way, South San Francisco, CA 94080, USA
Mol Cell Biol 29:2181-92. 2009..BRCA1-associated protein-1 (Bap1) is a ubiquitin carboxy-terminal hydrolase and is frequently mutated in lung and sporadic breast tumors...
- The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1Yuichi J Machida
Division of Oncology Research, Mayo College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
J Biol Chem 284:34179-88. 2009The deubiquitinating enzyme BRCA1-associated protein 1 (BAP1) possesses growth inhibitory activity and functions as a tumor suppressor. In this study we report that BAP1 also plays positive roles in cell proliferation...
- Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUBJohanna C Scheuermann
European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany
Nature 465:243-7. 2010..Here we show that the uncharacterized Drosophila PcG gene calypso encodes the ubiquitin carboxy-terminal hydrolase BAP1. Biochemically purified Calypso exists in a complex with the PcG protein ASX, and this complex, named Polycomb ..
- The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expressionHelen Yu
University of Montreal, Maisonneuve Rosemont Hospital Research Center, Department of Medicine, Montreal, Quebec, Canada
Mol Cell Biol 30:5071-85. 2010The candidate tumor suppressor BAP1 is a deubiquitinating enzyme (DUB) involved in the regulation of cell proliferation, although the molecular mechanisms governing its function remain poorly defined...
- Frequent mutation of BAP1 in metastasizing uveal melanomasJ William Harbour
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
Science 330:1410-3. 2010..Inactivating somatic mutations were identified in the gene encoding BRCA1-associated protein 1 (BAP1) on chromosome 3p21...
- An emerging model for BAP1's role in regulating cell cycle progressionZiad M Eletr
Department of Biochemistry, Emory University, Atlanta, GA 30322, USA
Cell Biochem Biophys 60:3-11. 2011BRCA1-associated protein-1 (BAP1) is a 729 residue, nuclear-localized deubiquitinating enzyme (DUB) that displays tumor suppressor properties in the BAP1-null NCI-H226 lung carcinoma cell line...
- The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesotheliomaMatthew Bott
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
Nat Genet 43:668-72. 2011..of 53 MPM tumor samples to guide a focused sequencing effort that uncovered somatic inactivating mutations in BAP1 in 23% of MPMs...
- Germline BAP1 mutations predispose to malignant mesotheliomaJoseph R Testa
Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
Nat Genet 43:1022-5. 2011..We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a high incidence of mesothelioma, and we observed somatic alterations affecting BAP1 in ..
- Germline mutations in BAP1 predispose to melanocytic tumorsThomas Wiesner
Department of Dermatology, Medical University of Graz, Graz, Austria
Nat Genet 43:1018-21. 2011..Segregating with this phenotype, we found inactivating germline mutations of BAP1, which encodes a ubiquitin carboxy-terminal hydrolase...
- Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancersMohamed H Abdel-Rahman
Department of Ophthalmology, The Ohio State University, Columbus, Ohio, USA
J Med Genet 48:856-9. 2011To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer.
- Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma familiesChing Ni Jenny Njauw
Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America
PLoS ONE 7:e35295. 2012b>BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM) and germline inactivation in a few individuals from cancer-prone families...
- BAP1 loss defines a new class of renal cell carcinomaSamuel Peña-Llopis
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA
Nat Genet 44:751-9. 2012..accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitinase, is inactivated in 15% of clear cell RCCs...
- BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITsMichele Carbone
University of Hawai i Cancer Center, 677 Ala Moana Boulevard, Suite 901, Honolulu, HI 96813, USA
J Transl Med 10:179. 2012BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21...
- The ASXL-BAP1 axis: new factors in myelopoiesis, cancer and epigeneticsO Abdel-Wahab
Human Oncology and Pathogenesis Program and Leukemia Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Leukemia 27:10-5. 2013The recent identification of germline and somatic mutations in BAP1 as well as in multiple members of the ASXL (additional sex combs-like) family of genes has highlighted the role of these proteins in a diverse array of biological ..
- BAP1 deficiency causes loss of melanocytic cell identity in uveal melanomaKatie A Matatall
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St, Louis, Missouri, USA
BMC Cancer 13:371. 2013..most metastasizing uveal melanomas, which exhibit a class 2 gene expression profile, contain inactivating mutations in the tumor suppressor BAP1. The aim of this study was to investigate the role of BAP1 in uveal melanoma progression.
- A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expressionThomas Wiesner
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Am J Surg Pathol 36:818-30. 2012We recently reported that germline mutations in BAP1 cause a familial tumor syndrome characterized by high penetrance for melanocytic tumors with distinct clinical and histologic features...
- Hereditary uveal melanoma: a report of a germline mutation in BAP1Veronica Höiom
Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden
Genes Chromosomes Cancer 52:378-84. 2013..Exome-wide analysis identified a novel loss-of-function mutation in the BAP1 gene, previously suggested as a tumor suppressor...
- Increments in cytokines and matrix metalloproteinases in skeletal muscle after injection of tissue-damaging toxins from the venom of the snake Bothrops asperAlexandra Rucavado
Instituto Clodomiro Picado, Facultad de Microbiologia, Escuela de Medicina, Universidad de Costa Rica, San Jose
Mediators Inflamm 11:121-8. 2002..of an Asp-49 myotoxic phospholipase A2 (myotoxin III (MT-III)) and a P-I type hemorrhagic metalloproteinase (BaP1) isolated from B. asper venom...
- Characterization of aspercetin, a platelet aggregating component from the venom of the snake Bothrops asper which induces thrombocytopenia and potentiates metalloproteinase-induced hemorrhageA Rucavado
Instituto Clodomiro Picado, Facultad de Mircobiología, Universidad de Costa Rica, San Jose
Thromb Haemost 85:710-5. 2001..asper hemorrhagic metalloproteinase BaP1 develop a larger hemorrhagic lesion than mice receiving only BaP1...
- Metabolic engineering of a methylmalonyl-CoA mutase-epimerase pathway for complex polyketide biosynthesis in Escherichia coliLinda C Dayem
Kosan Biosciences, Inc, 3832 Bay Center Place, Hayward, California 94545, and Departments of Chemical Engineering, Chemistry, and Biochemistry, Stanford University, Stanford, California 94305
Biochemistry 41:5193-201. 2002..When the E. coli BAP1 cell line [Pfeifer, B. A., et al. (2001) Science 291, 1790-1792] harboring plasmids that expressed P...
- Membrane independent activation of fibroblast proMMP-2 by snake venom: novel roles for venom proteinasesPatricia Saravia-Otten
Microbiology and Tumorbiology Center MTC, Karolinska Institute, Box 280, 171 77 Stockholm, Sweden
Toxicon 44:749-64. 2004..Venom serine proteinases activated proMMP-2, whereas BaP1, a P-I metalloproteinase, predominantly degraded the latent and active forms of MMP-2...
- Deficiency of ubiquitin carboxy-terminal hydrolase-L1 (UCH-L1) leads to vulnerability to lipid peroxidationSatoshi Nagamine
Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187 8502, Japan
Neurochem Int 57:102-10. 2010..These findings will provide clues for elucidating the physiological function of UCH-L1...
- The potential role of ubiquitin c-terminal hydrolases in oncogenesisYing Fang
Department of Gastroenterology of Zhongshan Hospital, Fudan University, Shanghai, 200032, PR China
Biochim Biophys Acta 1806:1-6. 2010..hydrolases (UCHs) subfamily of DUBs consists of four members: UCH-L1, UCH-L3, UCH37 and BRCA1-associated protein-1 (BAP1)...
- The rbmBCDEF gene cluster modulates development of rugose colony morphology and biofilm formation in Vibrio choleraeJiunn C N Fong
Department of Environmental Toxicology, University of California, Santa Cruz, Santa Cruz, CA 95064, USA
J Bacteriol 189:2319-30. 2007..RbmC and its homolog Bap1 are predicted to encode proteins with carbohydrate-binding domains...
- Differential gene expression of sulindac-treated human breast epithelial cellsD Roy
Biology Department, Brookhaven National Laboratory, Upton, NY 11973, USA
Int J Oncol 27:1727-36. 2005..Altered genes included BRCA1 associated protein-1 [ubiquitin carboxy-terminal hydrolase (bap1)]; cell division cycle 2, G1 to S and G2 to M [cdk1(cdc2)]; and DNA-damage-inducible transcript 1 (gadd45), which ..
- Capillary morphogenesis gene (CMG)-1 is among the genes differentially expressed in mouse male germ line stem cells and embryonic stem cellsRyu Suke Fujino
Stem Cell Project Group, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan
Mol Reprod Dev 73:955-66. 2006..The upregulated GS genes identified in this study will provide useful information for the future investigation of spermatogonial stem cells and the early phase of male germ cell differentiation...
- The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14Y H Edwards
M R C Human Biochemical Genetics Unit, Galton Laboratory, London
Ann Hum Genet 55:273-8. 1991..A regional assignment of this locus to 4p14 has been made by in situ hybridization to metaphase chromosomes using both tritium and fluorescently labelled probes...
- Proteomics analysis of hypothalamic response to energy restriction in dairy cowsBjörn Kuhla
Research Unit Nutritional Physiology Oskar Kellner, Research Institute for the Biology of Farm Animals FBN, Dummerstorf, Germany
Proteomics 7:3602-17. 2007..These proteins may be new candidate molecules that are potentially involved in signaling for maintaining energy homeostasis...
- Characterization of the testis in congenitally ubiquitin carboxy-terminal hydrolase-1 (Uch-L1) defective (gad) miceJungkee Kwon
Department of Biomedical Science, Graduate School of Agricultural and Life Sciences, University of Tokyo, 1 1 1 Yayoi, Bunkyo ku, Tokyo 113 8657, Japan
Exp Anim 52:1-9. 2003..Expression of other UCH isozyme mRNAs was not apparently affected by Uch-L1 deficiency in 25-week-old gad mice. This study is the first report on the testis of gad mutant mouse...
- Proteomic identification of dopamine-conjugated proteins from isolated rat brain mitochondria and SH-SY5Y cellsVictor S Van Laar
Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA
Neurobiol Dis 34:487-500. 2009..The susceptibility of the identified proteins to covalent modification by dopamine may carry implications for their role in the vulnerability of dopaminergic neurons in Parkinson's disease pathogenesis...
- Gene expression in diapause-destined embryos of the crustacean, Artemia franciscanaZhijun Qiu
Department of Biology, Dalhousie University, Halifax, NS, Canada B3H 4J1
Mech Dev 124:856-67. 2007..As examples, p8 may modulate gene expression during diapause in Artemia embryos. BRCA1 associated protein-1 (BAP1) and other functionally related proteins may influence cell growth and division during transition into diapause, a ..
- The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's diseaseB S Harhangi
Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
Neurosci Lett 270:1-4. 1999..We conclude that the UCH-L1 gene is not a major gene responsible for familial PD...
- No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's diseaseC Levecque
INSERM 508, Institut Pasteur de Lille, France
J Neural Transm (Vienna) 108:979-84. 2001..This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility...
- [Association of the ubiquitin carboxy-terminal hydrolase-L1 genetic polymorphism with the susceptibility of Parkinson's disease]Ying Xiao
Department of Neurology, the General Hospital of Tianjin Medical University, Tianjin 300052, P R China xxy jun eyou com
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:586-7. 2008..To study the association of two polymorphisms of ubiquitin carboxy-terminal hydrolase-L1 gene(UCH-L1), the 54C/A in exon 3 and the 277C/G in exon 4, with sporadic Parkinson's disease(PD) in Hans from North China...
- UCHL1 is a Parkinson's disease susceptibility geneDemetrius M Maraganore
Department of Neurology, Mayo Clinic, Rochester, MN, USA
Ann Neurol 55:512-21. 2004..These findings confirm that UCHL1 is a susceptibility gene for PD and a potential target for disease-modifying therapies...
- Blood flow is required for rapid endothelial cell damage induced by a snake venom hemorrhagic metalloproteinaseJose Maria Gutierrez
Instituto Clodomiro Picado, Facultad de Microbiologia, Universidad de Costa Rica, San Jose, Costa Rica
Microvasc Res 71:55-63. 2006..Saline solution or the metalloproteinase BaP1, from the venom of Bothrops asper, was injected into the gastrocnemius muscles of mice with normal blood flow ..
- Identification of proteins differentially expressed by melatonin treatment in cerebral ischemic injury--a proteomics approachJin Hee Sung
Department of Anatomy, College of Veterinary Medicine and Research Institute of Life Science, Gyeongsang National University, Jinju, South Korea
J Pineal Res 46:300-6. 2009..Thus, the results of this study suggest that melatonin prevents cell death resulting from ischemic brain injury and that its neuroprotective effects are mediated by both the up- and down-regulation of various proteins...
- Wound exudate as a proteomic window to reveal different mechanisms of tissue damage by snake venom toxinsTeresa Escalante
Instituto Clodomiro Picado, Facultad de Microbiologia, Universidad de Costa Rica, San Jose, Costa Rica
J Proteome Res 8:5120-31. 2009..analysis on wound exudates from muscular wounds in mice caused by two very different types of snake venom toxins: BaP1, a snake venom metalloproteinase and Mtx-I, a snake venom phospholipase A2...
- Cerebrospinal fluid ubiquitin C-terminal hydrolase as a novel marker of neuronal damage after epileptic seizureYajun Li
Department of Neurology, the Affiliated Hospital of Xi an Medical University, No 48, West Fenghao Road, Xi an 710077, Shaanxi Province, China
Epilepsy Res 103:205-10. 2013..The aim of the present study was to evaluate whether CSF UCH-L1 levels are a reliable marker of brain damage from epileptic seizures...
- Prognostic significance of BRCA1-associated protein 1 in colorectal cancerJianjun Tang
State Key Laboratory of Oncology in South China, Sun Yat sen University Cancer Center, No 651, Dongfeng Road East, Guangzhou 510060, China
Med Oncol 30:541. 2013Mutations of BRCA1-associated protein 1 (BAP1), a nuclear-localized deubiquitinating enzyme, had been documented in multiple human cancers. However, its role and clinical relevance in colorectal cancer is unknown...
- Sustained resistance to acute MPTP toxicity by hypothalamic dopamine neurons following chronic neurotoxicant exposure is associated with sustained up-regulation of parkin proteinMatthew Benskey
Neuroscience Program, Michigan State University, East Lansing, MI 48824, USA
Neurotoxicology 37:144-53. 2013....
- Hereditary kidney cancer syndromesNaomi B Haas
Department of Medicine, Division of Hematology Oncology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA and Department of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA
Adv Chronic Kidney Dis 21:81-90. 2014..with von Hippel Lindau disease, chromosome 3 translocations, PTEN hamartomatous syndrome, and mutations in the BAP1 gene as well as several of the genes encoding the proteins comprising the succinate dehydrogenase complex (SDHB/C/D)..
- Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanomaAnna E Koopmans
1 Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands 2 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
Mod Pathol 27:1321-30. 2014..A strong predictor for metastasis is the loss of chromosome 3. Inactivating mutations in BAP1 encoding the BRCA1-associated protein 1 and located on chromosome 3p21...
- Biallelic germline and somatic mutations in malignant mesothelioma: multiple mutations in transcription regulators including mSWI/SNF genesYoshie Yoshikawa
Department of Genetics, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan
Int J Cancer 136:560-71. 2015..exhibited extended germline homozygosity and were in regions containing somatic mutations, leading to a loss of BAP1 and PBRM1 expression in MM cell line. Most protein-damaging variants were heterozygous in normal tissues...
- Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicineMasaru Katoh
Department of Omics Network, National Cancer Center Japan, 5 1 1 Tsukiji Chuo Ward, Tokyo 104 0045, Japan
Expert Rev Proteomics 12:317-28. 2015ASXL1, ASXL2 and ASXL3 are epigenetic scaffolds for BAP1, EZH2, NCOA1, nuclear receptors and WTIP...
- Unraveling the Function of the Response Regulator BcSkn7 in the Stress Signaling Network of Botrytis cinereaAnne Viefhues
Institut fuer Biologie und Biotechnologie der Pflanzen, Westfaelische Wilhelms Universitaet Muenster, Muenster, Germany
Eukaryot Cell 14:636-51. 2015..Here, we show that the transcription factor Bap1 and the response regulator (RR) B...
- The downregulation of BAP1 expression by BCR-ABL reduces the stability of BRCA1 in chronic myeloid leukemiaFatima Dkhissi
Institut national U935 de la santé et de la recherche médicale, Universite de Poitiers, Poitiers, France Laboratoire Epigénétique et Destin Cellulaire, CNRS UMR 7216 Université Paris Diderot, Sorbonne Paris Cité, Paris, France Laboratoire Signalisation et Transports Ioniques Membranaires, CNRS ERL 7368 Université de Poitiers, Poitiers, France Electronic address
Exp Hematol 43:775-80. 2015..The protein breast cancer 1, early onset (BRCA1)-associated protein 1 (BAP1) is a deubiquitinase interacting with the DNA repair regulator BRCA1 and is frequently inactivated in many cancers...
- Umbilical cord blood concentrations of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) and glial fibrillary acidic protein (GFAP) in neonates developing hypoxic-ischemic encephalopathyMehreen Zaigham
a Department of Obstetrics and Gynecology and
J Matern Fetal Neonatal Med 29:1822-8. 2016....
- Visualization of Sensory Neurons and Their Projections in an Upper Motor Neuron Reporter LineBariş Genç
Davee Department of Neurology and Clinical Neurological Sciences, Northwestern University, Feinberg School of Medicine, Chicago, IL, United States of America
PLoS ONE 10:e0132815. 2015....
- Chronic exposure to low benzo[a]pyrene level causes neurodegenerative disease-like syndromes in zebrafish (Danio rerio)Dongxu Gao
State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Xiamen University, Xiamen, Fujian 361005, China
Aquat Toxicol 167:200-8. 2015..This study provides clues that BaP may constitute an important environmental risk factor for neurodegenerative diseases in humans. ..
- Hereditary melanoma: Update on syndromes and management: Emerging melanoma cancer complexes and genetic counselingEfthymia Soura
1st Department of Dermatology, University Clinic, Andreas Sygros Hospital, Athens, Greece
J Am Acad Dermatol 74:411-20; quiz 421-2. 2016..In addition to CDKN2A and CDK4, germline variants in TERT, MITF, and BAP1 have been added to the list of genes harboring melanoma-predisposing mutations...
- [BRCA1 associated protein 1 (BAP1) expression in pleural diffuse malignant mesothelioma: A comparative cytological and histological analyses on 50 patients]Alexandre Jaouën
Service de pathologie et de neuropathologie Est, centre de biologie et de pathologie Est CBPE, 59, boulevard Pinel, 69577 Bron cedex, France
Ann Pathol 36:111-9. 2016..The diagnosis is difficult and needs an antibody panel. The tumor suppressor gene BRCA1 associated protein 1 (BAP1) is involved in several cancers, including MMD...
- NeuCode Proteomics Reveals Bap1 Regulation of MetabolismJoshua M Baughman
Department of Protein Chemistry, Genentech, 1 DNA Way, South San Francisco, CA 94080, USA
Cell Rep 16:583-95. 2016..Using NeuCode, we characterize an inducible knockout mouse model of Bap1, a tumor suppressor and deubiquitinase whose in vivo roles outside of cancer are not well established...
- Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's diseaseS J Lubbe
Department of Clinical Neuroscience, UCL Institute of Neurology, London, United Kingdom
Neurobiol Aging 48:222.e1-222.e7. 2016..frequencies between PD cases and controls, under different inheritance models, in the following CMM risk genes: BAP1, DCC, ERBB4, KIT, MAPK2, MITF, PTEN, and TP53. The very rare TYR p...
- Molecular cloning, sequence and structure analysis of hamster apurinic/apyrimidinic endonuclease (chAPE1) geneS Purohit
Department of Biology, University of Texas at El Paso, El Paso, TX 79902, USA
Mutat Res 435:215-24. 1999..The structure of the chAPE1 gene is similar to other mammalian apurinic/apyrimidinic (AP) endonuclease (hAPE1, BAP1, rAPEN and mAPE1) genes in that it has five exons and four introns with the first exon unexpressed...
- Parkinson's genetics--creating exciting new insightsD A Grimes
Parkinson s Disease and Movement disorders Clinic, The Ottawa Hospital, Civic Campus, 1053 Carling Ave, K1Y 4E9, Ottawa, Ont, Canada
Parkinsonism Relat Disord 8:459-64. 2002..As additional Parkinson's disease loci are mapped and their genes identified we will continue to add to our understating of the critical biochemical pathways involved and be able to develop effective disease altering treatments...
- Role of ubiquitin carboxy terminal hydrolase-L1 in neural cell apoptosis induced by ischemic retinal injury in vivoTakayuki Harada
Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
Am J Pathol 164:59-64. 2004..These results demonstrate that UCH-L1 is involved in ubiquitin expression after stress stimuli, but excessive ubiquitin induction following ischemic injury may rather lead to neural cell apoptosis in vivo...
- Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese populationLei Wang
Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
J Clin Neurosci 18:541-4. 2011....
- Frequent inactivation of the BAP1 gene in epithelioid-type malignant mesotheliomaYoshie Yoshikawa
Department of Genetics, Hyogo College of Medicine, Hyogo, Japan
Cancer Sci 103:868-74. 2012In the present study, we analyzed genomic alterations of BRCA1-associated protein 1 (BAP1) in 23 malignant mesotheliomas (MMs), 16 epithelioid and seven non-epithelioid, consisting of 18 clinical specimens and five established cell lines...
- Recent advances in cutaneous melanoma: towards a molecular model and targeted treatmentJazlyn Read
Wesley Clinical School, The Wesley Hospital, Brisbane, Queensland, Australia
Australas J Dermatol 54:163-72. 2013..with familial melanoma have added a further dimension to the molecular underpinnings of melanoma, implicating BAP1 and MITF as melanoma predisposition genes...
- Autodeubiquitination protects the tumor suppressor BAP1 from cytoplasmic sequestration mediated by the atypical ubiquitin ligase UBE2ONazar Mashtalir
Maisonneuve Rosemont Hospital Research Center, Department of Medicine, University of Montreal, Montreal, QC H1T 2M4, Canada
Mol Cell 54:392-406. 2014The tumor suppressor BAP1 interacts with chromatin-associated proteins and regulates cell proliferation, but its mechanism of action and regulation remain poorly defined...
- Lactoferrin up-regulates intestinal gene expression of brain-derived neurotrophic factors BDNF, UCHL1 and alkaline phosphatase activity to alleviate early weaning diarrhea in postnatal pigletsChangwei Yang
School of Medicine, Xiamen University, Xiamen, 361102, China
J Nutr Biochem 25:834-42. 2014..The molecular basis underlying these findings suggests that Lf may enhance gut development and immune function by providing new insight into the gut-brain-microbe axis that has not been previously reported. ..
- Whole-exome sequencing reveals frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1 in malignant pleural mesotheliomaGuangwu Guo
Broad Institute of Harvard and MIT, Cambridge, Massachusetts Department of Medical Oncology and Center for Cancer Genome Discovery, Dana Farber Cancer Institute, Boston, Massachusetts
Cancer Res 75:264-9. 2015..Integrative analysis of mutations and somatic copy-number alterations revealed frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1. Our study presents the first unbiased view of the genomic basis of MPM.
- Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolutionMichal Kovac
1 Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK 2 Department of Biomedicine, Research Group Human Genomics, University of Basel, Mattenstrasse 28, 4058 Basel, Switzerland
Nat Commun 6:6336. 2015..We identify BAP1, SETD2, ARID2 and Nrf2 pathway genes (KEAP1, NHE2L2 and CUL3) as probable drivers, together with at least eight ..
- Molecular characterization of melanoma cases in Denmark suspected of genetic predispositionKarin A W Wadt
Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark
PLoS ONE 10:e0122662. 2015..We performed genetic analysis of CDKN2A, CDK4, BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11...
- Proteomic identification of oxidatively modified proteins in Alzheimer's disease brain. Part I: creatine kinase BB, glutamine synthase, and ubiquitin carboxy-terminal hydrolase L-1Alessandra Castegna
Department of Chemistry, Center of Membrane Sciences, University of Kentucky, Lexington 40506 0055, USA
Free Radic Biol Med 33:562-71. 2002..Proteomics offers a rapid means of identifying oxidatively modified proteins in aging and age-related neurodegenerative disorders without the limitations of the immunochemical detection method...
- Expression of ubiquitin-related enzymes in the suprachiasmatic nucleus with special reference to ubiquitin carboxy-terminal hydrolase UchL1Xin Dong
Department of Brain Sciences, Kobe University Graduate School of Medicine, 7 5 1 Kusunokicho, Chuo Ku, Kobe 650 0017, Japan
Biomed Res 26:43-9. 2005..Although strongly expressed in the SCN, UchL1 mRNA did not show the rhythm in the SCN in both light-dark and constant dark conditions...
- Age-dependent changes in bovine skeletal muscle transcriptomic profileT Sadkowski
Department of Physiological Sciences, Faculty of Veterinary Medicine, Warsaw Agricultural University, Poland
J Physiol Pharmacol 57:95-110. 2006....
- Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathyMarta Barrachina
Institut de Neuropatologia, Servei Anatomia Patològica, IDIBELL Hospital Universitari de Bellvitge, carrer Feixa Llarga sn, 08907 L Hospitalet de Llobregat, Spain
Am J Pathol 171:1312-23. 2007....
- Improved E. coli erythromycin A production through the application of metabolic and bioprocess engineeringHaoran Zhang
Department of Chemical and Biological Engineering, Tufts University, Medford, MA 02155, USA
Biotechnol Prog 28:292-6. 2012..The original strain, termed BAP1(pBPJW130, pBPJW144, pHZT1, pHZT2, pHZT4, pGro7), was designed to allow full erythromycin A biosynthesis from the ..
- LC-MS/MS quantification of short-chain acyl-CoA's in Escherichia coli demonstrates versatile propionyl-CoA synthetase substrate specificityJ W Armando
Department of Chemical and Biological Engineering, Tufts University, Medford, MA, USA
Lett Appl Microbiol 54:140-8. 2012..To further compare and potentially expand the levels of available acyl-CoA molecules, a propionyl-CoA synthetase gene from Ralstonia solanacearum (prpE-RS) was synthesized and expressed in the engineered strain BAP1.
- Glial neuronal ratio: a novel index for differentiating injury type in patients with severe traumatic brain injuryStefania Mondello
Department of Anesthesiology, University of Florida, Gainesville, Florida 32615, USA
J Neurotrauma 29:1096-104. 2012..In addition, GNR may help to identify different pathophysiological mechanisms following different types of brain trauma, with implications for therapeutic interventions...
- Loss of the tumor suppressor BAP1 causes myeloid transformationAnwesha Dey
Department of Physiological Chemistry, Genentech, 1 DNA Way, South San Francisco, CA 94080, USA
Science 337:1541-6. 2012De-ubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with increased risk of mesothelioma and uveal melanoma. Somatic BAP1 mutations occur in various malignancies...
- [Uveal melanoma: current insights into clinical relevance of genetic testing]C H Metz
Klinik fur Augenheilkunde, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstrasse 55, Essen
Klin Monbl Augenheilkd 230:686-91. 2013..Recently, major key genes involved in uveal melanoma development, GNAQ, GNA11, BAP1, SF3B1 and EIF1AX, have been identified...
- BAP1 protein is a progression factor in malignant pleural mesotheliomaLisa Arzt
Institute of Pathology, Research Unit for Molecular Lung and Pleura Pathology, Medical University of Graz, Auenbruggerplatz 25, 8036, Graz, Austria
Pathol Oncol Res 20:145-51. 2014..BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene that is frequently lost in MPM...
- Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new casesRobert Pilarski
Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio
Genes Chromosomes Cancer 53:177-82. 2014The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma...
- BAP1 protein loss by immunohistochemistry: a potentially useful tool for prognostic prediction in patients with uveal melanomaAkeesha A Shah
Department of Pathology, University of Virginia School of Medicine, Charlottesville VA Department of Pathology Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, United States
Pathology 45:651-6. 2013..Recently, biallelic inactivation of the BAP1 gene was shown to be associated with increased risk of metastasis in patients with uveal melanoma...
- 17. Peritoneal epithelioid mesothelioma in a patient with metastatic melanoma - an association seen in bap1 mutationsAnnalisa Gatt
Department of Anatomic Pathology, and Melanoma Institute Australia, Royal Prince Alfred Hospital, Sydney, NSW, Australia
Pathology 46:S112. 2014..amongst others has been described following germline or sporadic inactivation of BRCA1-associated protein (BAP1). Inactivation of BAP1 can be detected immunohistochemically...
- Multigene mutational profiling of cholangiocarcinomas identifies actionable molecular subgroupsMichele Simbolo
ARC NET Research Centre, University and Hospital Trust of Verona, Verona, Italy
Oncotarget 5:2839-52. 2014..The genes most frequently involved were KRAS (28%), TP53 (18%), ARID1A (12%), IDH1/2 (9%), PBRM1 (9%), BAP1 (7%), and PIK3CA (7%). IDH1/2 (p=0.0005) and BAP1 (p=0.0097) mutations were characteristic of ICC, while KRAS (p=0...
- Germline mutations in BAP1 impair its function in DNA double-strand break repairIsmail Hassan Ismail
Department of Oncology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada Biophysics Department, Faculty of Science, Cairo University, Giza, Egypt
Cancer Res 74:4282-94. 2014The BRCA1-associated deubiquitylase BAP1 is mutated in several cancers, most notably mesothelioma and melanoma, where it is thought to promote oncogenesis...
- MicroRNA-922 promotes tau phosphorylation by downregulating ubiquitin carboxy-terminal hydrolase L1 (UCHL1) expression in the pathogenesis of Alzheimer's diseaseZ B Zhao
Department of Neurology and Institute of Neurology, Rui Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, PR China
Neuroscience 275:232-7. 2014..Our study partly explained one of the mechanisms underlying the downregulation of UCHL1 levels in AD patients and could enrich the content of tau pathology in the pathogenesis of AD. ..
- Establishment of novel cell lines recapitulating the genetic landscape of uveal melanoma and preclinical validation of mTOR as a therapeutic targetNabil Amirouchene-Angelozzi
Biophenics Laboratory, Translational Research Department, Institut Curie, 26 Rue d Ulm, 75005 Paris, France Electronic address
Mol Oncol 8:1508-20. 2014..All the cell lines display GNAQ or GNA11 activating mutations, and importantly four of them display BAP1 (BRCA1 associated protein-1) deficiency, a hallmark of aggressive disease...
- Prognostic parameters in uveal melanoma and their association with BAP1 expressionT Huibertus van Essen
Department of Ophthalmology, Leiden University Medical Center LUMC, Leiden, The Netherlands
Br J Ophthalmol 98:1738-43. 2014To determine whether BAP1 gene and protein expression associates with different prognostic parameters in uveal melanoma and whether BAP1 expression correctly identifies patients as being at risk for metastases, following enucleation of ..
- Malignant Peritoneal Mesothelioma in an Adolescent Male With BAP1 DeletionSteve Taylor
Departments of Pathology and Laboratory Medicine Hematology and Oncology Surgery Radiology, Phoenix Children s Hospital, Phoenix, AZ
J Pediatr Hematol Oncol 37:e323-7. 2015..3, CK 20, CD10, CD30, CD15, CD117, PLAP, S100, TFE3, and EMA) confirmed the diagnosis. Of special interest, BAP1 staining was cytoplasmic and consistent with 3p deletion detected by conventional cytogenetics...
- Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survivalFrancine Baumann
University of Hawaii Cancer Center, Honolulu, HI 96813, USA
Carcinogenesis 36:76-81. 2015BRCA1-associated protein-1 (BAP1) mutations cause a new cancer syndrome, with a high rate of malignant mesothelioma (MM)...
- Loss of PBRM1 and BAP1 expression is less common in non-clear cell renal cell carcinoma than in clear cell renal cell carcinomaThai H Ho
Division of Hematology and Medical Oncology, Mayo Clinic, Scottsdale, AZ Epigenomics Program, Center for Individualized Medicine, Mayo Clinic, Rochester, MN Electronic address
Urol Oncol 33:23.e9-14. 2015Recurrent mutations in polybromo-1 (PBRM1, ~40%) and BRCA1-associated protein-1 (BAP1, ~10%) occur in clear cell renal cell carcinoma (ccRCC), but their prevalence in non-ccRCC or renal oncocytoma (RO) is unknown...
- BAP1 has a survival role in cutaneous melanomaRaj Kumar
Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
J Invest Dermatol 135:1089-97. 2015Although the pattern of BAP1 inactivation in ocular melanoma specimens and in the BAP1 cutaneous melanoma (CM)/ocular melanoma predisposition syndrome suggests a tumor suppressor function, the specific role of this gene in the ..
- Malignant pleural mesothelioma: history, controversy and future of a manmade epidemicOluf Dimitri Røe
Dept of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology NTNU, Trondheim, Norway Cancer Clinic, Levanger Hospital, Nord Trøndelag Health Trust, Levanger, Norway Dept of Oncology, Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark
Eur Respir Rev 24:115-31. 2015..discoveries of clinically promising noninvasive biomarkers, such as the 13-protein signature, microRNAs and the BAP1 mesothelioma/cancer syndrome, are highlighted...
- Molecular detection of genes related to biofilm formation in multidrug-resistant Acinetobacter baumannii isolated from clinical settingsFarzad Badmasti
Department of Bacteriology, Pasteur Institute of Iran, Tehran, Iran
J Med Microbiol 64:559-64. 2015..Polyclonal antibodies against recombinant AbOmpA8-346 and Bap1-487 proteins were obtained by the mouse immunization method...
- Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell CarcinomaMariam Jafri
Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom Department of Oncology, University Hospital Birmingham Foundation Trust, Birmingham, United Kingdom
Cancer Discov 5:723-9. 2015..heterogeneous and may be caused by mutations in multiple genes, including VHL, MET, SDHB, FH, FLCN, PTEN, and BAP1. However, most individuals with inherited RCC do not have a detectable germline mutation...
- Proteomic analysis of fetal programming-related obesity markersJi Hye Lee
Department of Obstetrics and Gynecology, Ewha Womans University, Seoul, South Korea
Proteomics 15:2669-77. 2015..These findings suggest that UCHL1 and SCRN1 may be used as fetal programming-related obesity markers. ..
- Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 MutationsMrinali P Gupta
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston2Department of Ophthalmology, Weill Cornell Medical College, New York, New York
JAMA Ophthalmol 133:881-7. 2015Somatic mutations in BAP1 (BRCA1-associated protein 1 gene) are frequently identified in uveal melanoma. To date, the role of germline BAP1 mutations in uveal melanoma has not been characterized.
- BAP1 (BRCA1-associated protein 1) is a highly specific marker for differentiating mesothelioma from reactive mesothelial proliferationsMarta Cigognetti
Department of Molecular and Translational Medicine, Section of Pathology, University of Brescia, Spedali Civili, Brescia, Italy
Mod Pathol 28:1043-57. 2015..Recently, variants of the BRCA1-associated protein 1 (BAP1) gene resulting in nuclear protein loss were reported in hereditary and sporadic mesothelioma...
- BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapiesFrancesco Piva
a 1 Department of Specialistic Clinical and Odontostomatological Sciences, Polytechnic University of Marche, Ancona, Italy
Expert Rev Mol Diagn 15:1201-10. 2015..These mutations cause loss of function of several genes located in close proximity to VHL and include PBRM1, BAP1 and SETD2...
- Spontaneous cellular and humoral tumor antigen responses in patients with uveal melanomaPierre L Triozzi
aTaussig Cancer Institute bCole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Melanoma Res 25:510-8. 2015..Cellular and humoral responses to melanoma differentiation antigens, as well as to BRCA1-associated protein 1 (BAP1) and α-enolase, alterations of which are associated with metastatic disease, were examined in patients with uveal ..
- Gender-Specific Molecular and Clinical Features Underlie Malignant Pleural MesotheliomaAssunta De Rienzo
The Thoracic Surgery Oncology laboratory and the International Mesothelioma Program, Division of Thoracic Surgery and the Lung Center, Brigham and Women s Hospital, and Harvard Medical School, Boston, Massachusetts
Cancer Res 76:319-28. 2016..Specifically, single-nucleotide variants of BAP1 were observed in 21% of cases, with lower mutation rates observed in sarcomatoid MPM (P < 0.001)...
- Pembe Hande Ozdinler; Fiscal Year: 2016..This proposal will bring a mechanistic insight into upper motor neuron degeneration and will reveal the role of UCHL1, and more broadly the function of improper UPS on the health and stability of upper motor neurons. ..
- Molecular Epidemiology of Parkinson's DiseaseDEMETRIUS MICHAEL MARAGANORE; Fiscal Year: 2010..They will also accelerate the development of new treatments, reduce research and development costs, and identify subgroups of patients most likely to benefit. ..
- Conditional Uch-L1 knockout miceMichael Lee; Fiscal Year: 2005..The IoxP-targeted Uch1 mice will be mated to pTH-Cre transgenic mice to silence Uch-L1 expression only in the dopaminergic and noradrenergic neurons. ..
- MOLECULAR MECHANISMS OF THE PARKINSON'S DISEASE GENESAsa Abeliovich; Fiscal Year: 2007..Of particular interest are potential relationships among these molecules. I propose to combine complementary biochemical, cellular, and genetic approaches to this end. ..
- LINDSAY MARIE LAFAVE; Fiscal Year: 2014DESCRIPTION (provided by applicant): This project aims to characterize the role of BRCA1 associated protein-1 (BAP1) in normal and malignant hematopoiesis...
- JAMES WILLIAM HARBOUR; Fiscal Year: 2015..to apply the recently described technique of exome capture followed by massively parallel sequencing to identify BAP1 as the metastasis suppressor mapping to chromosome 3 in UM...
- Frank J Rauscher; Fiscal Year: 2016..In late November of 2010, Harbour et al. reported that the tumor suppressor gene, BAP1 is mutated in 84% of Class 1 metastatic tumors...
- CHELSEA SCHWARTZ PLACE; Fiscal Year: 2014..genes include the heterotrimeric G protein alpha subunits GNAQ and GNA11, in addition to the tumor suppressor BAP1. Mutations in GNAQ/11 lead to downstream activation of the MAP kinase pathway, which signals through RAF, MEK, and ..
- Ubiquitin-dependent proteolysis: Specificity & MechanismKeith D Wilkinson; Fiscal Year: 2010..by direct recognition (USP5/isopeptidase T, Aim 1) or by adapter-assisted recognition of specific substrates (BAP1, Aim 2)...
- Production and characterization of ubiquitin proteinsKIRSTY LAPAN; Fiscal Year: 2006..be tested for hydrolysis against a battery of deubiquitinating enzymes, including Isopeptidase T, UCH-L1, UCH-L3, BAP1, and USP14, to characterize these hydrolytic specificities of these enzymes...
- CHARACTERIZATION OF TWO NOVEL BCL-2-ASSCOCIATED PROTEINSDaniel Johnson; Fiscal Year: 1999..In preliminary studies, we have cloned two cDNAs which code for novel proteins, BAP1 and BAP2, that bind to Bcl-2 in vitro...
- Structural and Functional Characterization of BRCA1Rachel Klevit; Fiscal Year: 2007..3) characterize the interaction between the N-terminal region of BRCA1 and two of its binding partners, BAP1, a ubiquitin hydrolase, and the estrogen receptor, ER-alpha, and 4) characterize protein complexes involving the C-..
- Role of the BRCA1 Associated Protein BAP1 in DNA RepairFrank Rauscher; Fiscal Year: 2005We have previously discovered the BRCA1-associated Protein-1 (BAP1) which was cloned in a screen for proteins which bind to the RING finger domain of BRCA1 BAP1 is a nuclear-localized, ubiquitin carboxyl- terminal hydrolase, suggesting ..
- HTS for Inhibitors of BAP1,BRCA:Deubiquinating(RMI)KEITH WILKINSON; Fiscal Year: 2005..research and attempts to elucidate its biochemical function have included identifying its protein partners, such as BAP1. BAP1 is a member of the UCH family of deubiquitinating enzymes (DUB)...
- Control of Eye Melanoma MetastsisHans E Grossniklaus; Fiscal Year: 2010..The third aim determines the mechanism of combined angiostatin/IFN control of the micrometastases using methods in the first two aims. ..
- SUBMACULAR SURGERY TRIALS PATHOLOGY CENTERHans Grossniklaus; Fiscal Year: 2003..Additionally, eyes obtained post-mortem from patients enrolled in the SST will be studied for pathologic correlation with clinical findings and outcomes. ..
- Control of Eye Melanoma MetastasisHans Grossniklaus; Fiscal Year: 2003..Both the IFN and angiostatin will prevent the progression of micrometastases into metastases by anti-angiogenesis. Angiostatin will prevent metastases by an anti-melanoma invasion effect. ..
- Phase Ib trial of TD101 siRNA for pachyonychia congenita (IND 77,504, 12-03-07)Sancy Leachman; Fiscal Year: 2009....
- THE ROLE OF RB IN THE RETINA & OTHER TISSUESJAMES HARBOUR; Fiscal Year: 2009..Consequently, these aims are highly relevant to the vision statement of the NEI, and they address several major program goals and objectives of the Retinal Diseases Program. ..