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16 documents found
1: Title: Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Authors: Vahidnezhad, Hassan, et.al. .
Journal: Human mutation (Hum Mutat), Vol. 39 (10): 1349-1354, 2018 .
Snippet: In one patient, novel homozygous mutations were disclosed in two different, unlinked EB-associated genes: EXPH5, chr11 g.108510085G > A; p.Arg1808Ter and COL17A1, chr10 g.104077423delT; p.Thr68LeufsTer106.
Affiliation: Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA. Drexel University College of Medicine, Philadelphia, PA, USA. Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. Department of Information Science, College of Computing and Informatics, Drexel University, Philadelphia, PA, USA. Viapath, St Thomas' Hospital, London, UK. Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran. Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Kawsar Human Genetics Research Center, Tehran, Iran. .
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2: Title: Identification of Genetic and Epigenetic Variants Associated with Breast Cancer Prognosis by Integrative Bioinformatics Analysis.
Authors: Shilpi, Arunima, et.al. .
Journal: Cancer informatics (Unknown Journal), Vol. 16, 2017 .
Snippet: These CpG-SNP pairs were strongly associated with differential expression of ADAM8, CREB5, and EXPH5 genes, respectively.
Affiliation: Epigenetics and Cancer Research Laboratory, Biochemistry and Molecular Biology Group Department of Life Science, National Institute of Technology Rourkela, Odisha, India. Division of Health and Biomedical Informatics, Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. .
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3: Title: Genomic Characterization of Metformin Hepatic Response.
Authors: Luizon, Marcelo R, et.al. .
Journal: PLoS genetics (Plos Genet), Vol. 12 (11): e1006449, 2016 .
Snippet: Expression quantitative trait locus (eQTL) liver analysis and CRISPR activation suggest that this enhancer could be regulating ATM, which has a known role in AMPK activation, and potentially also EXPH5 and DDX10, its neighboring genes.
Affiliation: Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, United States of America. Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America. Department of General Biology, Institute of Biological Sciences, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil. School of Pharmaceutical Sciences, Tsinghua University, Beijing, China. Library and Center for Knowledge Management, University of California San Francisco, San Francisco, California, United States of America. Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, United States of America. Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America. Merck Research Labs, Merck & Co. Inc., Kenilworth, New Jersey, United States of America. .
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4: Title: A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.
Authors: Malchin, N, et.al. .
Journal: Clinical and experimental dermatology (Clin Exp Dermatol), Vol. 41 (8): 915-918, 2016 .
Snippet: Appraisal of the present case against previously reported patients indicate that EXPH5 mutations result in a distinctive skin fragility phenotype, with minimal blistering compared with other forms of basal EBS.
Affiliation: Department of Dermatology, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Department of Dermatology, Ha Emek Medical Center, Afula, Israel. Department of Pathology, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. Pediatric Dermatology Unit, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. .
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5: Title: Epidermolysis Bullosa Simplex
Authors: Pfendner, Ellen G, et.al. .
Publisher: University of Washington, Seattle GeneReviews(®)
Snippet: DIAGNOSIS/TESTING: The diagnosis of epidermolysis bullosa simplex (EBS) is established in a proband by the identification of biallelic pathogenic variants in EXPH5 or TGM5 or heterozygous (or rarely biallelic) pathogenic variants in KRT5 or KRT14 by molecular genetic testing; examination of a skin biopsy using immunofluorescence microscopy and transmission electron microscopy may be considered but can have limitations in the diagnosis of EBS.
Affiliation: GeneDx, Inc, Gaithersburg, Maryland Department of Dermatology, University of Colorado School of Medicine, Aurora, Colorado .
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6: Title: Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.
Authors: Turcan, Iana, et.al. .
Journal: JAMA dermatology (Jama Dermatol), Vol. 152 (10): 1137-1141, 2016 .
Snippet: Herein, we report a novel homozygous nonsense mutation in EXPH5 responsible for an EBS subtype with mottled pigmentation.
Affiliation: Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands2Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. .
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7: Title: Recently Identified Forms of Epidermolysis Bullosa.
Journal: Annals of dermatology (Ann Dermatol), Vol. 27 (6): 658-66, 2015 .
Snippet: This review focuses on three recent additions to variants of EB: all are autosomal recessive, and result from mutations in either DST-e (coding for epidermal dystonin, also known as the 230 kDa bullous pemphigoid antigen, BP230), EXPH5 (coding for exophilin-5, also known as Slac2-b), or ITGA3 (coding for the integrin alpha-3 subunit).
Affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK. .
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8: Title: Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.
Authors: Rashidghamat, E, et.al. .
Journal: The British journal of dermatology (Br J Dermatol), Vol. 174 (2): 452-3, 2016 .
No Abstract available.
Affiliation: St John's Institute of Dermatology, King's College London, London, U.K. Viapath, St Thomas' Hospital, London, U.K. Department of Dermatology, Great Ormond Street for Children NHS Foundation Trust, London, U.K. .
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9: Title: Dissecting the mechanism of colorectal tumorigenesis based on RNA-sequencing data.
Authors: Liu, Fuguo, et.al. .
Journal: Experimental and molecular pathology (Exp Mol Pathol), Vol. 98 (2): 246-53, 2015 .
Snippet: Additionally, COL1A1-PPP2R2C and EXPH5-COL1A2 were observed fusion genes in cancer tissue.
Affiliation: Department of Gastroenterology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: lfuguo@yeah.net. Department of Gastroenterology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: jfengz@163.com. Statistics Division, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: xinjianghjj@163.com. Department of Gastroenterology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: jjyping@126.com. Department of Gastroenterology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: xguosu@163.com. Department of Gastroenterology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: yylulan@163.com. Department of Gastroenterology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: zhlingyu@yeah.net. Department of Gastroenterology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: hyyueh@163.com. Department of Gastroenterology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao 266003, Shandong Province, China. Electronic address: shuangxll@163.com. .
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10: Title: Mutations in EXPH5 result in autosomal recessive inherited skin fragility.
Authors: Liu, L, et.al. .
Journal: The British journal of dermatology (Br J Dermatol), Vol. 170 (1): 196-9, 2014 .
Snippet: Recently, autosomal recessive loss-of-function mutations in EXPH5 (encoding exophilin-5, also known as Slac2-b, a protein involved in intracellular vesicle transport) were identified in a new mechanobullous disease resembling a form of epidermolysis bullosa simplex (EBS).
Affiliation: The Robin Eady National Diagnostic Epidermolysis Bullosa Laboratory, GSTS Pathology, St Thomas' Hospital, London, U.K. .
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11: Title: Molecular Heterogeneity of Epidermolysis Bullosa Simplex: Contribution of EXPH5 Mutations.
Authors: Pigors, Manuela, et.al. .
Journal: The Journal of investigative dermatology (J Invest Dermatol), Vol. 134 (3): 842-5, 2014 .
No Abstract available.
Affiliation: Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany. Center for Human Genetics Freiburg, Freiburg, Germany. 1] Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany [2] Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany. .
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12: Title: Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
Authors: McGrath, John A, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 91 (6): 1115-21, 2012 .
Snippet: The Rab GTPase Rab27B and one of its effector proteins, Slac2-b (also known as EXPH5, exophilin-5), have putative roles in intracellular vesicle trafficking but their relevance to human disease is not known.
Affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London SE1 9RT, UK. john.mcgrath@kcl.ac.uk .
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13: Title: Rab27 and Rab3 sequentially regulate human sperm dense-core granule exocytosis.
Authors: Bustos, Matías A, et.al. .
Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A), Vol. 109 (30): E2057-66, 2012 .
Snippet: Rab27 and Rab3 sequentially regulate human sperm dense-core granule exocytosis, and Rab27 is also required for the acrosome reaction.
Affiliation: Laboratorio de Biología Celular y Molecular, Instituto de Histología y Embriología, Facultad de Ciencias Médicas, Universidad Nacional de Cuyo, 5500 Mendoza, Argentina. .
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14: Title: Bridging the gap: western rock skinks (Trachylepis sulcata) have a short history in South Africa.
Authors: Portik, Daniel M, et.al. .
Journal: Molecular ecology (Mol Ecol), Vol. 20 (8): 1744-58, 2011 .
Snippet: Using 1056 bp from the mitochondrial marker ND2 and > 2.5 kb from three nuclear genes (EXPH5, KIF24, RAG-1), we constructed allele networks, generated extended Bayesian skyline plots and performed population clustering analyses.
Affiliation: Department of Biology, Villanova University, 800 Lancaster Avenue, Villanova, PA 19085-1699, USA. daniel.portik@berkeley.edu .
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15: Title: Rab27a and Rab27b control different steps of the exosome secretion pathway.
Authors: Ostrowski, Matias, et.al. .
Journal: Nature cell biology (Nat Cell Biol), Vol. 12 (1): 19-30; sup pp 1-13, 2010 .
Snippet: In addition, silencing two known Rab27 effectors, Slp4 (also known as SYTL4, synaptotagmin-like 4) and Slac2b (also known as EXPH5, exophilin 5), inhibited exosome secretion and phenocopied silencing of Rab27a and Rab27b, respectively.
Affiliation: INSERM U932, 26 rue d'Ulm, 75005 Paris, France. .
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16: Title: Constitutive GDP/GTP exchange and secretion-dependent GTP hydrolysis activity for Rab27 in platelets.
Authors: Kondo, Hirokazu, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 281 (39): 28657-65, 2006 .
Snippet: Here, we analyzed the activation status of Rab27 using the thin layer chromatography method analyzing nucleotides bound to immunoprecipitated Rab27 and the pull-down method quantifying Rab27 bound to the GTP-Rab27-binding domain (synaptotagmin-like protein (Slp)-homology domain) of its specific effector, Slac2-b.
Affiliation: Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan. .
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