MFN2

Summary

Gene Symbol: MFN2
Description: mitofusin 2
Alias: CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, mitofusin-2, hyperplasia suppressor, mitochondrial assembly regulatory factor, transmembrane GTPase MFN2
Species: human

Top Publications

  1. pmc Virus-infection or 5'ppp-RNA activates antiviral signal through redistribution of IPS-1 mediated by MFN1
    Kazuhide Onoguchi
    Department of Molecular Genetics, Institute for Virus Research, Kyoto University, Kyoto, Japan
    PLoS Pathog 6:e1001012. 2010
  2. pmc Subjects with early-onset type 2 diabetes show defective activation of the skeletal muscle PGC-1{alpha}/Mitofusin-2 regulatory pathway in response to physical activity
    María Isabel Hernández-Alvarez
    Institute for Research in Biomedicine IRB Barcelona, Barcelona, Spain
    Diabetes Care 33:645-51. 2010
  3. doi Parkin promotes the ubiquitination and degradation of the mitochondrial fusion factor mitofusin 1
    Liliane Glauser
    Laboratory of Molecular Neurodegenerative Research, Brain Mind Institute, School of Life Sciences, Ecole Polytechnique Federale de Lausanne EPFL, Lausanne, Switzerland
    J Neurochem 118:636-45. 2011
  4. ncbi Control of mitochondrial morphology by a human mitofusin
    A Santel
    Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305 5329, USA
    J Cell Sci 114:867-74. 2001
  5. ncbi Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo
    Manuel Rojo
    INSERM U 523 Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    J Cell Sci 115:1663-74. 2002
  6. pmc Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis
    Mariusz Karbowski
    Biochemistry Section, SNB, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    J Cell Biol 159:931-8. 2002
  7. ncbi Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity
    Daniel Bach
    Parc Cientific de Barcelona, Facultat de Biologia, Universitat de Barcelona, Barcelona 08028, Spain
    J Biol Chem 278:17190-7. 2003
  8. ncbi Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    Stephan Zuchner
    Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Nat Genet 36:449-51. 2004
  9. ncbi Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A
    Kazuki Kijima
    Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    Hum Genet 116:23-7. 2005
  10. ncbi The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system
    Sara Pich
    Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, and IRBB PCB, Parc Cientific de Barcelona, Barcelona, Spain
    Hum Mol Genet 14:1405-15. 2005

Research Grants

  1. Impaired mitochondrial fusion in pulmonary arterial hypertension
    Stephen L Archer; Fiscal Year: 2010
  2. NAOMI MIRIAM HAMBURG; Fiscal Year: 2016
  3. Emerging Functions of Mitochondrial Fission in Postischemic Endothelial Cells
    BARBARA RITA ALEVRIADOU; Fiscal Year: 2012
  4. JEREL ADAM FIELDS; Fiscal Year: 2014
  5. GLADYS AFOR NGOH; Fiscal Year: 2016
  6. Gerald W Dorn; Fiscal Year: 2016
  7. Regulation of Mitochondrial Fission/Fusion by PP2A and PKA in Neurons
    Stefan Strack; Fiscal Year: 2009
  8. Hiromi Sesaki; Fiscal Year: 2014
  9. Regulatory subunits of PP2A in neuronal function
    Stefan Strack; Fiscal Year: 2011
  10. Kenneth Walsh; Fiscal Year: 2016

Detail Information

Publications287 found, 100 shown here

  1. pmc Virus-infection or 5'ppp-RNA activates antiviral signal through redistribution of IPS-1 mediated by MFN1
    Kazuhide Onoguchi
    Department of Molecular Genetics, Institute for Virus Research, Kyoto University, Kyoto, Japan
    PLoS Pathog 6:e1001012. 2010
    ..Conversely, specific knockdown of MFN1 abrogates both the virus-induced redistribution of IPS-1 and IFN production. Our study suggests that mitochondria participate in the segregation of IPS-1 through their fusion processes...
  2. pmc Subjects with early-onset type 2 diabetes show defective activation of the skeletal muscle PGC-1{alpha}/Mitofusin-2 regulatory pathway in response to physical activity
    María Isabel Hernández-Alvarez
    Institute for Research in Biomedicine IRB Barcelona, Barcelona, Spain
    Diabetes Care 33:645-51. 2010
    ..the regulatory pathway peroxisome proliferator-activated receptor gamma coactivator (PGC)-1alpha/mitofusin-2 (Mfn2) was analyzed...
  3. doi Parkin promotes the ubiquitination and degradation of the mitochondrial fusion factor mitofusin 1
    Liliane Glauser
    Laboratory of Molecular Neurodegenerative Research, Brain Mind Institute, School of Life Sciences, Ecole Polytechnique Federale de Lausanne EPFL, Lausanne, Switzerland
    J Neurochem 118:636-45. 2011
    ..This process may serve to selectively isolate damaged mitochondria for their removal by autophagy...
  4. ncbi Control of mitochondrial morphology by a human mitofusin
    A Santel
    Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305 5329, USA
    J Cell Sci 114:867-74. 2001
    ..We have identified two human genes encoding potential mediators of mitochondrial fusion. The mitofusins (Mfn1 and Mfn2) are homologs of the Drosophila protein fuzzy onion (Fzo) that associate with mitochondria and alter mitochondrial ..
  5. ncbi Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo
    Manuel Rojo
    INSERM U 523 Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    J Cell Sci 115:1663-74. 2002
    Two human Fzo-homologs, mitofusins Mfn1 and Mfn2, are shown by RT-PCR and western blot to be ubiquitous mitochondrial proteins...
  6. pmc Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis
    Mariusz Karbowski
    Biochemistry Section, SNB, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    J Cell Biol 159:931-8. 2002
    ..Surprisingly, Drp1 and Mfn2, but not other proteins implicated in the regulation of mitochondrial morphology, colocalize with Bax in these foci...
  7. ncbi Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity
    Daniel Bach
    Parc Cientific de Barcelona, Facultat de Biologia, Universitat de Barcelona, Barcelona 08028, Spain
    J Biol Chem 278:17190-7. 2003
    ..We show that Mfn2 (mitofusin 2), a mitochondrial membrane protein that participates in mitochondrial fusion in mammalian cells, is induced ..
  8. ncbi Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    Stephan Zuchner
    Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Nat Genet 36:449-51. 2004
  9. ncbi Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A
    Kazuki Kijima
    Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    Hum Genet 116:23-7. 2005
    ..in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees...
  10. ncbi The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system
    Sara Pich
    Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, and IRBB PCB, Parc Cientific de Barcelona, Barcelona, Spain
    Hum Mol Genet 14:1405-15. 2005
    Mitofusin-2 (Mfn2) is a mitochondrial membrane protein that participates in mitochondrial fusion in mammalian cells and mutations in the Mfn2 gene cause Charcot-Marie-Tooth neuropathy type 2A...
  11. ncbi Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene
    Victoria H Lawson
    Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84132 2305, USA
    Neurology 65:197-204. 2005
    ..Recently, mutations in the MFN2 gene, encoding the mitochondrial GTPase mitofusin 2 (Mfn2), have been identified as causative of CMT2A in seven families...
  12. ncbi Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
    Stephan Zuchner
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Ann Neurol 59:276-81. 2006
    ..Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has remained elusive...
  13. ncbi Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
    Robert H Baloh
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 27:422-30. 2007
    Mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) are the most commonly identified cause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherited disease characterized by degeneration of peripheral sensory and motor ..
  14. pmc Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations
    Elizabeth A Amiott
    Department of Biochemistry, University of Utah School of Medicine, 15 N Medical Drive East, Salt Lake City, UT 84112, USA
    Exp Neurol 211:115-27. 2008
    ..We have utilized primary fibroblasts from CMT2A patients to survey mitochondrial phenotypes associated with heterozygous MFN2 alleles expressed at physiological ..
  15. pmc Mitochondrial fusion is increased by the nuclear coactivator PGC-1beta
    Marc Liesa
    Institute for Research in Biomedicine IRB Barcelona, Barcelona, Spain
    PLoS ONE 3:e3613. 2008
    ..There is no evidence to date on whether transcriptional regulators are able to shift the balance between mitochondrial fusion and fission events through selective control of gene expression...
  16. doi Mitofusin 2 tethers endoplasmic reticulum to mitochondria
    Olga Martins de Brito
    Dulbecco Telethon Institute, Venetian Institute of Molecular Medicine, Via Orus 2, 35129 Padova, Italy
    Nature 456:605-10. 2008
    ..Here we show that mitofusin 2, a mitochondrial dynamin-related protein mutated in the inherited motor neuropathy Charcot-Marie-Tooth type IIa,..
  17. pmc A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover
    Elizabeth A Amiott
    Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
    Mol Biol Cell 20:5026-35. 2009
    Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by mutations in the gene MFN2 and is one of the most common inherited peripheral neuropathies...
  18. doi Anti-tumour efficacy of mitofusin-2 in urinary bladder carcinoma
    Baiye Jin
    Department of Urology, The First Affiliated Hospital, College of Medicine, Zhejiang University, 310003 Hangzhou, People s Republic of China
    Med Oncol 28:S373-80. 2011
    Mitochondrial GTPase mitofusin-2 gene (Mfn2) is a novel gene characterised as a cell proliferation inhibitor. Mfn2 protein over-expression, mediated by an adenovirus, has a significant anti-tumour effect in A548 and HT-29 cells...
  19. doi Mitofusin-2 is a novel direct target of p53
    WeiLin Wang
    Key Lab of Combined Multi Organ Transplantation, Ministry of Public Health, Key Lab of Organ Transplantation, Department of Hepatobiliary and Pancreatic Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China
    Biochem Biophys Res Commun 400:587-92. 2010
    ..Mitofusin-2 (Mfn2) is a novel suppressor of cell proliferation that may also exert apoptotic effects via the mitochondrial apoptotic ..
  20. pmc Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy
    Matthew E Gegg
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Hum Mol Genet 19:4861-70. 2010
    ..The ubiquitination of several mitochondrial proteins, including mitofusin 1 and mitofusin 2, were detected within 3 h of CCCP treatment...
  21. pmc Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin
    Atsushi Tanaka
    Biochemistry Section, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    J Cell Biol 191:1367-80. 2010
    ..Here we show that ubiquitination of mitofusins Mfn1 and Mfn2, large GTPases that mediate mitochondrial fusion, is induced by Parkin upon membrane depolarization and leads to ..
  22. pmc Role of mitofusin 2 (Mfn2) in controlling cellular proliferation
    Kuang Hueih Chen
    2Lymphocyte Cell Biology Unit, Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Biomedical Research Center, 251 Bayview Blvd, Baltimore, MD 21224, USA P G
    FASEB J 28:382-94. 2014
    It has been reported that Mitofusin2 (Mfn2) inhibits cell proliferation when overexpressed...
  23. doi Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A
    Romain Cartoni
    Department of Cell Biology, Geneve, Switzerland
    Exp Neurol 218:268-73. 2009
    ..CMT2A has been recently linked to mutations in the mitofusin 2 (Mfn2) gene...
  24. ncbi Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells
    Ansgar Santel
    Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
    J Cell Sci 116:2763-74. 2003
    ..The nuclear encoded mitochondrial proteins Mfn1 and Mfn2 are human homologues of the only known protein mediators of mitochondrial fusion, the Drosophila Fzo GTPase and ..
  25. ncbi Dysregulation of HSG triggers vascular proliferative disorders
    Kuang Hueih Chen
    The Institute of Cardiovascular Science and The Institute of Molecular Medicine, Peking University, Beijing 100083, China
    Nat Cell Biol 6:872-83. 2004
    ..Here, we identify and characterize a novel hyperplasia suppressor gene, named HSG (later re-named rat mitofusin-2)...
  26. ncbi Activated mitofusin 2 signals mitochondrial fusion, interferes with Bax activation, and reduces susceptibility to radical induced depolarization
    Margaret Neuspiel
    University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada
    J Biol Chem 280:25060-70. 2005
    Mitochondrial fusion in higher eukaryotes requires at least two essential GTPases, Mitofusin 1 and Mitofusin 2 (Mfn2)...
  27. ncbi Expression of Mfn2, the Charcot-Marie-Tooth neuropathy type 2A gene, in human skeletal muscle: effects of type 2 diabetes, obesity, weight loss, and the regulatory role of tumor necrosis factor alpha and interleukin-6
    Daniel Bach
    Universitat de Barcelona, Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Avda Diagonal 645, Barcelona, Spain
    Diabetes 54:2685-93. 2005
    The primary gene mutated in Charcot-Marie-Tooth type 2A is mitofusin-2 (Mfn2)...
  28. ncbi Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)
    C Neusch
    Department of Neurology, University Göttingen, Gottingen, Germany
    Eur J Neurol 14:575-7. 2007
    ..Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 (MFN2) genes. Here, we report a German patient with CMT2 with an underlying spontaneous mutation (c...
  29. doi Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations
    G A Nicholson
    Molecular Medicine Laboratory and ANZAC Research Institute, Clinical Sciences Building, Concord Hospital, NSW 2139, Australia
    Neurology 70:1678-81. 2008
    ..Most cases are sporadic single cases. Some have heterozygous mitofusin 2 (MFN2) mutations, many of which are de novo dominant mutations...
  30. doi Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease
    Virginie Guillet
    INSERM, U694, Angers, 49000, France
    Neurogenetics 11:127-33. 2010
    Charcot-Marie-Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in MFN2, a mitochondrial fusion protein...
  31. doi Mitofusin 2 inhibits mitochondrial antiviral signaling
    Kai Yasukawa
    Department of Biology, Kyushu University, Hakozaki, Higashi ku, Fukuoka, Japan
    Sci Signal 2:ra47. 2009
    ..Here, we report that mitofusin 2 (Mfn2), a mediator of mitochondrial fusion, interacts with MAVS to modulate antiviral immunity...
  32. doi Phenotypic spectrum of MFN2 mutations in the Spanish population
    C Casasnovas
    Neurology Department, Hospital Universitari de Bellvitge, L Hospitalet de Llobregat, Barcelona, Spain
    J Med Genet 47:249-56. 2010
    The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2).
  33. ncbi HSG/Mfn2 gene polymorphism and essential hypertension: a case-control association study in Chinese
    Zuoguang Wang
    Department of Hypertension, Beijing Anzhen Hospital, Attached to Capital University of Medical Sciences, Beijing Institute of Heart, Lung, Blood Vessel Diseases, Chaoyang District, Beijing, PR China
    J Atheroscler Thromb 18:24-31. 2011
    b>Hyperplasia suppressor gene/mitofusion-2 (HSG/Mfn2) is a hyperplasia suppressor gene and an essential component of mitochondrial fusion machinery; however, the association between the single nucleotide polymorphism (SNP) of HSG/Mfn2 and ..
  34. pmc Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2
    Donald S McCorquodale
    Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC M 860, 1501 NW 10th Avenue, Miami, FL 33136, USA
    J Neurol 258:1234-9. 2011
    ..Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical ..
  35. ncbi Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations
    D Zhu
    ANZAC Research Institute, University of Sydney, Concord Hospital, NSW, Australia
    Neurology 65:496-7. 2005
  36. pmc Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
    Kathrin Engelfried
    Department of Human Genetics, Ruhr University Bochum, Germany
    BMC Med Genet 7:53. 2006
    Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
  37. doi The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease
    Francesc Palau
    Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia, CSIC and CIBER de Enfermedades Raras CIBERER, c Jaume Roig 11, 46010, Valencia, Spain
    Adv Exp Med Biol 652:129-37. 2009
    ..Mutations in the MFN2 gene cause the most frequent form of autosomal dominant axonal Charcot-Marie-Tooth disease, CMT2A. Mutations in OPA1 cause autosomal dominant optic atrophy (ADOA)...
  38. ncbi Antioxidant and prooxidant action of eugenol-related compounds and their cytotoxicity
    Seiichiro Fujisawa
    Department of Oral Diagnosis, Meikai University School of Dentistry, 1 1 Keyakidai, Sakado, Saitama 350 0283, Japan
    Toxicology 177:39-54. 2002
    ..The cytotoxic activity of 6 toward human submandibular gland carcinoma (HSG) cells was the highest and was 1000-fold greater than that of eugenol and 100-fold greater than that of BHA, ..
  39. ncbi Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
    K W Chung
    Department of Neurology and Ewha Medical Research Center, Ewha Woman s University, College of Medicine, Dongdaemun Hospital, 70 Jongno 6 ga, Jongno gu, 110 783, Seoul, Korea E mail
    Brain 129:2103-18. 2006
    Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot-Marie-Tooth 2A (CMT2A) and hereditary motor and sensory neuropathy VI (HMSN VI)...
  40. ncbi Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2
    F Gemignani
    Institute of Neurology, University of Parma, Via del Quartiere 4, I 43100 Parma, Italy
    J Neurol Sci 184:1-9. 2001
    ..e. complex forms with involvement of additional neural structures. The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to ..
  41. doi Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A
    Romain Cartoni
    Department of Cell Biology, University of Geneva, 30 Quai Ernest Ansermet, 1211 Geneve 4, Switzerland
    Brain 133:1460-9. 2010
    ..disease type 2A is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene...
  42. ncbi Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A
    M Saito
    Department of Neurology, Brain Research Institute, Niigata University, Japan
    Neurology 49:1630-5. 1997
    ..the median nerve of > 38 m/sec and is a genetically heterogeneous disorder with at least three loci identified: CMT2A (1p35-36), CMT2B (3q13-22), CMT2C (not linked to any known loci), and CMT2D (7p14)...
  43. doi Histamine H1 receptor induces cytosolic calcium increase and aquaporin translocation in human salivary gland cells
    Ji Hyun Kim
    Department of Physiology, Seoul National University School of Dentistry, Jongno, Seoul 110 749, Korea
    J Pharmacol Exp Ther 330:403-12. 2009
    ..In primary cultured human submandibular gland and a HSG cell line, histamine increased the intracellular Ca(2+) concentration...
  44. ncbi Radical generation, radical-scavenging activity, and cytotoxicity of eugenol-related compounds
    S Fujisawa
    Department of Oral Diagnosis, Meikai University School of Dentistry, Saitama, Japan
    In Vitr Mol Toxicol 13:269-80. 2000
    ..The cytotoxic activity of these compounds was determined using a salivary gland tumor cell line (HSG), oral squamous cell carcinoma cell line (HSC-2) and human promyelocytic leukemia cell line (HL-60)...
  45. ncbi The role of Seprafilm bioresorbable membrane in the prevention and therapy of endometrial synechiae
    Vassilios S Tsapanos
    Department of Obstetrics and Gynecology, Medical School, University of Patras, Greece
    J Biomed Mater Res 63:10-4. 2002
    ..Endometrial synechiae formation was evaluated with the use of hysterosalpingography (HSG) in patients of all groups without pregnancy success 8 months after the intervention...
  46. pmc Laparoscopic management of paratubal and paraovarian cysts
    Atef M Darwish
    Department of Obstetrics and Gynecology, Assiut University Hospital, Assiut, Egypt
    JSLS 7:101-6. 2003
    ..To define the proportion, methods of diagnosis, and a simplified laparoscopic technique for treating paratubal and paraovarian cysts...
  47. ncbi Kinetic radical scavenging activity and cytotoxicity of 2-methoxy- and 2-t-butyl-substituted phenols and their dimers
    Seiichiro Fujisawa
    Meikai University School of Dentistry, Saitama, Japan
    Anticancer Res 24:3019-26. 2004
    ..On the basis of cytotoxic activity against a human submandibular gland carcinoma cell line (HSG) and human gingival fibroblasts (HGF), these compounds could be classified into a high-activity group (DBP, bis-DBP ..
  48. ncbi Therapeutic effect of hysterosalpingography: oil- versus water-soluble contrast media--a randomized prospective study
    F Rasmussen
    Department of Diagnostic Radiology, Odense University Hospital, Denmark
    Radiology 179:75-8. 1991
    In a prospective randomized study, the number of pregnancies after hysterosalpingography (HSG) was estimated in 398 patients who had been infertile for longer than 1 year...
  49. ncbi The feasibility, success and patient satisfaction associated with outpatient hysteroscopic sterilisation
    D Sinha
    Department of Obstetrics and Gynaecology, Birmingham Women s Hospital, Birmingham, UK
    BJOG 114:676-83. 2007
    ..To determine the feasibility and patient satisfaction of female sterilisation using the Essure system in an outpatient hysteroscopy clinic without conscious sedation or general anaesthesia...
  50. ncbi [Outcome and relevant factors of tubal pregnancy treated with laparoscopic conservative surgery]
    Jun Zhang
    Department of Obstetrics and Gynecology, Beijing Anzhen Hospital, Capital University of Medical Sciences, Beijing 100029, China
    Zhonghua Fu Chan Ke Za Zhi 45:84-8. 2010
    ..To investigate the therapeutic outcome and its influencing factors after laparoscopic conservative surgery in treatment of tubal pregnancy...
  51. ncbi [Differentiating gynecologic tumors in woman using correlated imaging techniques]
    J Złomaniec
    Zakład Radiologii Ogólnej Akademia Medyczna w Lublinie
    Ann Univ Mariae Curie Sklodowska Med 49:93-8. 1994
    ..imaging techniques like plain X-ray of abdomen, ultrasonography, excretion urography, double contrast barium enema, HSG, computed tomography, was performed in the group of 92 women presenting with gynaecological tumors...
  52. ncbi Diagnostic quality and complications of hysterosalpingography: oil- versus water-soluble contrast media--a randomized prospective study
    S Lindequist
    Department of Diagnostic Radiology, Odense University Hospital, Denmark
    Radiology 179:69-74. 1991
    ..and complications of contrast media and the diagnostic quality of images obtained after hysterosalpingography (HSG) were evaluated after use of diatrizoate meglumine (104 patients), ioxaglate (105 patients), iohexol (105 patients),..
  53. ncbi Should laparoscopy be a mandatory component of the infertility evaluation in infertile women with normal hysterosalpingogram or suspected unilateral distal tubal pathology?
    Yuval Lavy
    Department of Obstetrics and Gynecology, Hadassah Medical Organization, Hadassah University Hospital, Mt Scopus, Jerusalem 91240, Israel
    Eur J Obstet Gynecol Reprod Biol 114:64-8. 2004
    To assess the diagnostic benefit of laparoscopy in infertile women with normal hysterosalpingography (HSG) or suspected unilateral pathology on HSG.
  54. ncbi HSG cells differentiated by culture on extracellular matrix involves induction of S-adenosylmethione decarboxylase and ornithine decarboxylase
    Kirby Lam
    Division of Tumour Biology, Northeastern Ontario Regional Cancer Centre, Sudbury, Ontario, Canada P3E 5J1
    J Cell Physiol 203:353-61. 2005
    The human salivary gland (HSG) epithelial cell line can differentiate when cultured on extracellular matrix preparations. We previously identified >30 genes upregulated by adhesion of HSG cells to extracellular matrix...
  55. ncbi Tubo-peritoneal infertility: comparision of pre-operative hysterosalpingography and laparotomy findings (Tikur Anbessa Hospital, 1995 - 2002)
    Tadesse Kitilla
    Department of Obstetrics and Gynecology, Addis Ababa University, Faculty of Medicine
    Ethiop Med J 44:167-74. 2006
    To assess the value of hysterosalpingography (HSG) in diagnosing abnormalities of the fallopian tube in infertile women suspected to have infertility associated with a tubo-peritoneal cause.
  56. ncbi Radiofrequency global endometrial ablation followed by hysteroscopic sterilization
    Matthew R Hopkins
    Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Minim Invasive Gynecol 14:494-501. 2007
    ..To describe the feasibility of performing Essure hysteroscopic sterilization immediately after NovaSure global endometrial ablation (GEA)...
  57. ncbi Pregnancy rates after the use of oil-based and water-based contrast media to evaluate tubal patency
    G S Letterie
    Department of Obstetrics and Gynecology, Tripler Army Medical Center, Honolulu, Hawaii 96859 5000
    South Med J 83:1402-3. 1990
    Hysterosalpingography (HSG) has assumed a diagnostic and possibly therapeutic role in the evaluation of the infertile couple. The procedure is done using either an oil-based (OBCM) or a water-based (WBCM) contrast medium...
  58. doi Fast-release orodispersible tramadol as analgesia in hysterosalpingography with a metal cannula or a balloon catheter
    D Stoop
    Centre for Reproductive Medicine, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, B 1090 Brussels, Belgium
    Hum Reprod 25:1451-7. 2010
    ..aimed to evaluate the potential benefit, in terms of pain relief, of the new oral fast-release orodispersible galvanic form of tramadol in women undergoing hysterosalpingography (HSG) with either a metal cannula or a balloon catheter.
  59. ncbi A prospective comparative study between hysterosalpingography and hysteroscopy in the detection of intrauterine pathology in patients with infertility
    Sangchai Preutthipan
    Department of Obstetrics and Gynecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
    J Obstet Gynaecol Res 29:33-7. 2003
    To investigate the accuracy of hysterosalpingography (HSG) in comparison to hysteroscopy in the detection of intrauterine pathology in patients with infertility, where hysteroscopy is the gold standard.
  60. doi Lidocaine 10% spray reduces pain during hysterosalpingography: a randomized controlled trial
    Emre Karasahin
    Gulhane Military Medical Academy and Medical School, Department of Obstetrics and Gynaecology, Ankara, Turkey
    J Obstet Gynaecol Res 35:354-8. 2009
    The aim of this study was to evaluate whether the use of lidocaine 10% spray was effective in pain control during hysterosalpingography (HSG).
  61. ncbi General practitioners' perceptions and attitudes to infertility management in primary care: focus group study
    Scott Wilkes
    Centre for Primary and Community Care, School of Health Natural and Social Sciences, University of Sunderland, Sunderland, UK
    J Eval Clin Pract 13:358-63. 2007
    ..National Institute of Clinical Excellence have recommended hysterosalpingography (HSG) as a first-line investigation for tubal assessment...
  62. ncbi The nature of intrauterine adhesions following reproductive hysteroscopic surgery as determined by early and late follow-up hysteroscopy: clinical implications
    Tarek A Shokeir
    Department of Obstetrics and Gynecology, Fertility Care Unit, Mansoura Faculty of Medicine, Mansoura University Hospital, Mansoura, Egypt
    Arch Gynecol Obstet 277:423-7. 2008
    ....
  63. ncbi Expression of cAMP response element binding protein (CREB)-binding protein (CBP) and the implication in retinoic acid-inducible transcription activation in human salivary gland adenocarcinoma cell line HSG
    S Kyakumoto
    Department of Biochemistry, Iwate Medical University School of Dentistry, Chuodori, Morioka, Iwate, Japan
    Endocr Res 29:277-89. 2003
    ..In order to investigate the relationship of CBP to the RA signaling in a human salivary gland (HSG) adenocarcinoma cell line, we examined the expression of CBP in the cells...
  64. doi Framework for assessing governance of the health system in developing countries: gateway to good governance
    Sameen Siddiqi
    Eastern Mediterranean Regional Office, World Health Organization, Cairo 11371, Egypt
    Health Policy 90:13-25. 2009
    ..A framework for assessing health system governance (HSG) at national and sub-national levels is presented, which has been applied in countries of the Eastern Mediterranean...
  65. ncbi Cobalt chloride induces apoptosis and zinc chloride suppresses cobalt-induced apoptosis by Bcl-2 expression in human submandibular gland HSG cells
    Kazumi Akita
    Department of Histology and Oral Histology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima 770 8504, Japan
    Int J Oncol 31:923-9. 2007
    To determine the effects of cobalt chloride on human submandibular gland cells, HSG cells were exposed to various concentrations of cobalt chloride...
  66. ncbi Multidetector computed tomography virtual hysterosalpingography in the investigation of the uterus and fallopian tubes
    Patricia Carrascosa
    Diagnóstico Maipú, Av Maipu 1668, Vicente López B1602ABQ, Buenos Aires, Argentina
    Eur J Radiol 67:531-5. 2008
    To compare the efficacy of multidetector CT virtual hysterosalpingography (MDCT-VH) with conventional X-ray hysterosalpingography (HSG) in the evaluation of patients with diagnosis of infertility.
  67. ncbi A second hysterosalpingography reduces the use of selective technique for treatment of a proximal tubal obstruction
    S Dessole
    Sassari University, Sassari, Italy
    Fertil Steril 73:1037-9. 2000
    To assess whether a second hysterosalpingography (HSG) can permit tubal patency, reducing the use of selective salpingography in patients with proximal tubal obstruction.
  68. ncbi Comparison of the effect of single-dose and multiple-dose methotrexate therapy on tubal patency
    Emine Seda Guvendag Guven
    Department of Obstetrics and Gynecology, Etlik Womens Health and Teaching Hospital, Ankara, Turkey
    Fertil Steril 88:1288-92. 2007
    To compare tubal patency by using hysterosalpingography (HSG) in women with unruptured ectopic tubal pregnancy who were treated with either single-dose or multiple-dose methotrexate (MTX) regimen.
  69. pmc Glandular and extraglandular expression of costimulatory molecules in patients with Sjögren's syndrome
    R Matsumura
    Department of Internal Medicine, Toho University School of Medicine, Sakura Hospital, Japan
    Ann Rheum Dis 60:473-82. 2001
    ..To investigate the expression and regulation of CD80, CD86, and CD28 costimulatory molecules in sialoadenitis and interstitial nephritis in patients with Sjögren's syndrome (SS)...
  70. ncbi Genetic evaluation of inherited motor/sensory neuropathy
    Phillip F Chance
    Neurogenetics Laboratory, Division of Genetics and Developmental Medicine, Box 356320, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA
    Suppl Clin Neurophysiol 57:228-42. 2004
    ..Charcot-Marie-Tooth neuropathy type 2 (CMT2) is an axonal neuropathy that maps to chromosome 1p35-p36 (CMT2A), chromosome 3q13-q22 (CMT2B), chromosome 7p14 (CMT2D), chromosome 8p21 (CMT2E), chromosome 1q22-q23 (CMT2F) or ..
  71. ncbi The cell extract of Porphyromonas gingivalis promotes attachment of Prevotella nigrescens cells to hydroxyapatite
    Yasuyuki Hirano
    Department of Bacteriology, Nihon University School of Dentistry, Tokyo 101 8310, Japan
    J Oral Sci 45:99-106. 2003
    ..Porphyromonas gingivalis 381 (Pg-Ext), but not to HA coated with human serum albumin (HSA) or human serum globulin (HSG)...
  72. ncbi Hysterosalpingography: a reemerging study
    William L Simpson
    Department of Radiology, Mount Sinai Medical Center, Box 1234, 1 Gustave L Levy Place, New York, NY 10029, USA
    Radiographics 26:419-31. 2006
    Hysterosalpingography (HSG) has become a commonly performed examination due to recent advances and improvements in, as well as the increasing popularity of, reproductive medicine...
  73. ncbi [Adnexal defect identified with hysterosalpingogram and laparoscopy during infertility evaluation]
    E S Sills
    Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Atlanta Medical Center, Atlanta, Georgia, Etats Unis
    J Gynecol Obstet Biol Reprod (Paris) 31:772-4. 2002
    To describe a previously unreported adnexal defect as a cause of an abnormal hysterosalpingogram (HSG), identified during infertility evaluation.
  74. ncbi Comparison of hysterosalpingography and laparoscopy in the evaluation of infertile women
    Mehmet N Sakar
    Department of Obstetrics and Gynecology, Ozel Veni Vidi Hospital, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
    Saudi Med J 29:1315-8. 2008
    To compare tuboperitoneal factors of infertile women by hysterosalpingography (HSG) and laparoscopy.
  75. doi Infertility in women: combined sonohysterography and hysterosalpingography in the evaluation of the uterine cavity
    C De Felice
    Department of Gynecoloy, Sapienza University of Rome, Rome, Italy
    Ultraschall Med 30:52-7. 2009
    To evaluate the diagnostic effectiveness of combined hysterosalpingography (HSG) and sonohysterography (SHG) in the study of infertile women.
  76. ncbi A randomized, blinded, prospective trial to compare the safety and efficacy of three bowel-cleansing solutions for colonoscopy (HSG-01*)
    C Ell
    Dept of Internal Medicine II, Dr Horst Schmidt Hospital Teaching Hospital of the Johannes Gutenberg University of Mainz, Wiesbaden, Germany
    Endoscopy 35:300-4. 2003
    ....
  77. ncbi Reagents and methods for PET using bispecific antibody pretargeting and 68Ga-radiolabeled bivalent hapten-peptide-chelate conjugates
    Gary L Griffiths
    Immunomedics, Inc, Morris Plains, New Jersey Garden State Cancer Center, Belleville, New Jersey 07950, USA
    J Nucl Med 45:30-9. 2004
    ..The aim of this work was to develop reagents and methods potentially useful in PET, using (68)Ga in a 2-step pretargeting protocol...
  78. ncbi Investigation of infertility management in primary care with open access hysterosalpingography (HSG): a pilot study
    Scott Wilkes
    Centre for Primary and Community Care, School of Health Natural and Social Sciences, Benedict Building, University of Sunderland, UK
    Hum Fertil (Camb) 9:47-51. 2006
    ..pelvic inflammatory disease, endometriosis or previous ectopic pregnancy) should be offered hysterosalpingography (HSG)". We made HSG available to six general practices in Newcastle upon Tyne as an open access investigation...
  79. ncbi Lidocaine-prilocaine (EMLA) cream as analgesia for hysterosalpingography: a prospective, randomized, controlled, double blinded study
    G Liberty
    Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem
    Hum Reprod 22:1335-9. 2007
    The aim of our study is to evaluate the efficacy of applying lidocaine 25 mg-prilocaine-25 mg/G cream (EMLA 5%) on the uterine cervix for pain relief when performing hysterosalpingography (HSG).
  80. ncbi Increasing the apico-coronal dimension of attached gingiva using the modified apically repositioned flap technique: a case series with a 6-month follow-up
    João Carnio
    Postgraduate Program in Periodontics, State University of Londrina School of Dentistry, Londrina, PR, Brazil
    J Periodontol 78:1825-30. 2007
    This case series reports on the effectiveness of the modified apically repositioned flap (MARF) in increasing the apico-coronal dimension of attached gingiva over multiple adjacent teeth.
  81. doi Interaction of bracken-fern extract with vitamin C in human submandibular gland and oral epithelium cell lines
    Mariana Campos-da-Paz
    Departamento de Biologia Celular, Instituto de Ciencias Biologicas, Universidade de Brasilia, Brasilia, DF, Brazil
    Mutat Res 652:158-63. 2008
    ..C (10 and 100 microg/ml) on the reversibility of DNA damage caused by bracken-fern on human submandibular gland (HSG) cells and on oral epithelium cells (OSCC-3) previously exposed to bracken-fern extract. DNA damage (i.e...
  82. pmc Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1
    Yong Yea Park
    Department of Biochemistry, Ajou University School of Medicine, Yeongtong Gu, Suwon 443 721, Korea
    J Cell Sci 123:619-26. 2010
    ..as a molecule that binds mitochondrial fission 1 protein (hFis1), dynamin-related protein 1 (Drp1) and mitofusin 2 (Mfn2), key proteins in the control of mitochondrial fission and fusion...
  83. ncbi [Analysis of epitopes and function of anti-M3 muscarinic acetylcholine receptor antibodies in patients with Sjögren's syndrome]
    Hiroto Tsuboi
    Division of Clinical Immunology, Doctoral Program in Clinical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba
    Nihon Rinsho Meneki Gakkai Kaishi 33:222-8. 2010
    ..For functional analysis, human salivary gland (HSG) cells were pre-cultured with IgG from anti-M3R antibodies positive SS, negative SS, and HC...
  84. doi Diagnostic accuracy of sonohysterography, hysterosalpingography and diagnostic hysteroscopy in diagnosis of arcuate, septate and bicornuate uterus
    Artur Ludwin
    Department of Gynecology and Oncology, Jagiellonian University, Krakow, Poland
    J Obstet Gynaecol Res 37:178-86. 2011
    To evaluate the diagnostic accuracy of sonohysterography (SHG), hysterosalpingography (HSG) and diagnostic hysteroscopy (DH) in uterine anomaly detection and to assess the role of these various modalities in the differential diagnosis of ..
  85. pmc Patient and professional views of open access hysterosalpingography for the initial management of infertility in primary care
    Scott Wilkes
    Centre for Primary and Community Care, School of Health Natural and Social Sciences, University of Sunderland
    Br J Gen Pract 59:336-42. 2009
    Hysterosalpingography (HSG) is recommended as a first-line investigation for tubal assessment of infertile women. This investigation is not routinely available to GPs.
  86. ncbi [Sonohysterosalpingography versus hysterosalpingography in the evaluation of uterine and tubal infertility]
    Demetra Socolov
    Facultatea de Medicina, Departamentul de Obstetrică Ginecologie, Universitatea de Medicină si Farmacie Gr T Popa Iaşi
    Rev Med Chir Soc Med Nat Iasi 113:803-8. 2009
    ..role of sonohysterosalpingography with saline with air as a contrast solution (HYCOSY), in the assessment of uterine cavity and tubal patency, versus hysterosalpingography (HSG) and laparoscopy with dye test combined with hysteroscopy.
  87. ncbi Evaluation of the chemosensitivity of head and neck cancer cells based on the diverse function of mutated-p53
    Yasuhiro Shinagawa
    Department of Surgical and Molecular Pathology, Dokkyo University School of Medicine, Tochigi 321 0293, Japan
    Int J Oncol 22:383-9. 2003
    ..We used two human head and neck cancer cell lines harboring mutated p53 gene, HSG (Asn30Ser) and TYS (Asp281His), and a human osteosarcoma cell line, Saos-2 as a control...
  88. ncbi Mechanism of Fas-mediated cell death and its enhancement by TNF-alpha in human salivary gland adenocarcinoma cell line HSG
    Naoyuki Chosa
    Department of Biochemistry, Iwate Medical University School of Dentistry, Morioka, Iwate, Japan
    Eur J Oral Sci 112:338-46. 2004
    Fas-mediated cell death in a human salivary gland adenocarcinoma cell line (HSG) was induced by treatment of the cells with agonistic anti-Fas antibody (CH-11), and this cell death was enhanced by pretreatment with tumor necrosis factor ..
  89. ncbi Induction of cytotoxicity and apoptosis and inhibition of cyclooxygenase-2 gene expression, by curcumin and its analog, alpha-diisoeugenol
    Toshiko Atsumi
    Department of Human Development and Fostering, Meikai University School of Dentistry, Sakado, Saitama 350 0283, Japan
    Anticancer Res 25:4029-36. 2005
    ..and a-diisoeugenol against human promyelocytic leukemia cells (HL-60 cells) and human submandibular cancer cells (HSG cells) was similar (CC50 1-3 microM)...
  90. ncbi Dysregulation of mitochondrial fusion and fission: an emerging concept in neurodegeneration
    Stephan Frank
    Department of Neuropathology, Bonn University Medical Center, Sigmund Freud Str 25, 53105, Bonn, Germany
    Acta Neuropathol 111:93-100. 2006
    ..disorders such as autosomal dominant optic atrophy (ADOA) and Charcot-Marie-Tooth neuropathy type 2A (CMT2A) can now be linked to mutations in genes encoding mediators of mitochondrial fusion...
  91. ncbi Identification of a novel protein that regulates mitochondrial fusion by modulating mitofusin (Mfn) protein function
    Yuka Eura
    Department of Molecular Biology, Graduate School of Medical Science, Kyushu University, Fukuoka 812 8582, Japan
    J Cell Sci 119:4913-25. 2006
    Mitofusin proteins 1 and 2 (Mfn1 and Mfn2, respectively) of the mammalian mitochondrial outer membrane are homologues of Drosophila FZO and yeast Fzo1, and both are essential for GTP-dependent mitochondrial fusion...
  92. ncbi Re-evaluation of the indication for and limitation of laparoscopic salpingotomy for tubal pregnancy
    Akira Fujishita
    Department of Obstetrics and Gynecology, Nagasaki University School of Medicine, Nagasaki, Japan
    Eur J Obstet Gynecol Reprod Biol 137:210-6. 2008
    We investigated the outcome of laparoscopic salpingotomy for tubal pregnancy by follow-up hysterosalpingography (HSG) or second-look laparoscopy (SLL) and reexamined the indication for and limitation of this conservative surgery.
  93. doi Screening strategies for tubal factor subfertility
    J E den Hartog
    Research Institute Growth and Development GROW, Department of Obstetrics and Gynaecology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Hum Reprod 23:1840-8. 2008
    ..IgG antibody testing (CAT), high-sensitivity C-reactive protein (hs-CRP) testing and hysterosalpingography (HSG), were explored using laparoscopy as reference standard and the occurrence of a spontaneous pregnancy as a ..
  94. doi Comparison of biological effectiveness of carbon-ion beams in Japan and Germany
    Akiko Uzawa
    Heavy Ion Radiobiology Research Group, Research Center of Charged Particle Therapy, National Institute of Radiological Sciences, Chiba, Japan
    Int J Radiat Oncol Biol Phys 73:1545-51. 2009
    ..To compare the biological effectiveness of 290 MeV/amu carbon-ion beams in Chiba, Japan and in Darmstadt, Germany, given that different methods for beam delivery are used for each...
  95. doi Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth disease
    Yi Chung Lee
    Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan
    Neuromuscul Disord 20:534-9. 2010
    ..No mutation in PMP22, MPZ, GJB1, NEFL, LITAF, EGR2, MFN2, HSP27, HSP22, GADP1, YARS, and DNM2 genes was found in the proband...
  96. doi Inherited mitochondrial neuropathies
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    J Neurol Sci 304:9-16. 2011
    ..MIDs in which polyneuropathy is the dominant feature, include NARP syndrome due to the transition m.8993T>, CMT2A due to MFN2 mutations, CMT2K and CMT4A due to GDAP1 mutations, and axonal/demyelinating neuropathy with external ..
  97. doi SR and mitochondria: calcium cross-talk between kissing cousins
    Gerald W Dorn
    Center for Pharmacogenomics, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    J Mol Cell Cardiol 55:42-9. 2013
    ..Recent work revealed a unique role for mitofusin 2 in tethering mitochondria to the sarco-/endoplasmic reticulum in various cell types, including cardiac myocytes...
  98. doi The ubiquitin ligase Mul1 induces mitophagy in skeletal muscle in response to muscle-wasting stimuli
    Sudarsanareddy Lokireddy
    School of Biological Sciences, Nanyang Technological University, Singapore 637551, Singapore
    Cell Metab 16:613-24. 2012
    ..while increasing mitochondrial fission, resulted in ubiquitination and degradation of the mitochondrial fusion protein Mfn2. Collectively, these data explain the molecular basis for the loss of mitochondrial number during muscle wasting.
  99. doi Diagnosis and treatment of tubal diverticula: report of 13 cases
    Hongjing Han
    Reproductive Medicine Center, Peking University People s Hospital, Beijing, China
    J Minim Invasive Gynecol 21:142-6. 2014
    ..The clinical manifestations, diagnosis at hysterosalpingography (HSG), surgical treatment, and pregnancy rates of the 13 cases were retrospectively analyzed...
  100. pmc Replication of oral BK virus in human salivary gland cells
    Raquel Burger-Calderon
    Microbiology and Immunology Department, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
    J Virol 88:559-73. 2014
    ..generated DNase-resistant particles and by far surpassed the replication potential of the kidney-derived isolate in HSG cells. HIVSGD-2 encoded a truncated form of Tag and replicated much less efficiently...
  101. doi Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease
    Giorgia Bergamin
    Department of Biology, University of Padova, Padua, Italy
    Neuromolecular Med 16:540-50. 2014
    ..To date, more than 50 CMT genes have been identified, but more than half of the cases are due to mutations in MFN2, MPZ, GJB1 and PMP22...

Research Grants60

  1. Impaired mitochondrial fusion in pulmonary arterial hypertension
    Stephen L Archer; Fiscal Year: 2010
    ..Indeed, when first cloned, mitofusin-2 was named hyperplasia suppressor gene. Mitofusin-2 gene therapy reduces intimal hyperplasia in a systemic arterial injury model...
  2. NAOMI MIRIAM HAMBURG; Fiscal Year: 2016
    ..endothelial cells from obese patients and measure mitochondrial ROS, network extent, and expression of UCP-2, Mfn2, and Fis1 and relate the findings to endothelium- dependent vasodilation in the arm and to eNOS activation in the ..
  3. Emerging Functions of Mitochondrial Fission in Postischemic Endothelial Cells
    BARBARA RITA ALEVRIADOU; Fiscal Year: 2012
    ..Drp1 inhibitor or following overexpression of either a dominant negative Drp1 form or the fusion protein mitofusin 2, will be exposed to I/RP, and mitochondrial function, autophagy and apoptosis will be measured...
  4. JEREL ADAM FIELDS; Fiscal Year: 2014
    ..studies show that HIV proteins may interfere with normal function of mitochondrial fission/fusion proteins DRP1 and Mfn2, which may affect fission/fusion and mitophagy...
  5. GLADYS AFOR NGOH; Fiscal Year: 2016
    ..vascular endothelium, the PI has developed a novel hypothesis wherein the mitochondrial shaping proteins;Mfn1 and Mfn2 perform crucial roles in the maintenance of proper architecture and function of the mitochondrial compartment in ..
  6. Gerald W Dorn; Fiscal Year: 2016
    ..mitochondrial fusion/fission factor and heart disease, a rare R400Q mutation in the mitochondrial fusion factor mitofusin 2 (Mfn2). Other Mfn2 mutations cause Charcot-Marie-Tooth Syndrome, but not heart disease...
  7. Regulation of Mitochondrial Fission/Fusion by PP2A and PKA in Neurons
    Stefan Strack; Fiscal Year: 2009
    ..Mutations in two of these enzymes, Opal and Mfn2, are responsible for hereditary neurological diseases...
  8. Hiromi Sesaki; Fiscal Year: 2014
    ..We have shown that the loss of Drp1 reduces Mfn1 and Mfn2 levels in Drp1-null mouse embryonic fibroblasts...
  9. Regulatory subunits of PP2A in neuronal function
    Stefan Strack; Fiscal Year: 2011
    ..These studies are significant in that they advance our understanding of the critical regulatory enzyme PP2A with the ultimate goal of better therapies for several neurodegenerative disorders. ..
  10. Kenneth Walsh; Fiscal Year: 2016
    ..Recent evidence from our laboratory suggests that cardiac myocyte-specific ablation of both Mfn1 and Mfn2 leads to a greater number of fragmented mitochondria, left ventricular remodeling and systolic dysfunction, and ..
  11. Michael E Shy; Fiscal Year: 2016
    ..Dr. Shy, from WSU, will undertake a natural history analysis of CMT1B, CMT2A, and CMT4A. Drs Zuchner and Vance, from Miami, will perform a search for modifier genes in various forms of CMT...
  12. Role of mitochondrial dynamics in Parkinsons disease processes and therapeutics
    PHILLIP MICHAEL RAPPOLD; Fiscal Year: 2013
    ..increased recruitment of the fission protein Drp1 to mitochondria with concomitant reduction in the fusion protein Mfn2. In addition to these structural changes, there was also significant loss of mitochondrial membrane potential and ..
  13. The Pathophysiology of CMT2A in Cell and Animal Models
    Stephan Zuchner; Fiscal Year: 2010
    ..investigator and 1 co-investigator on this application have recently identified the mitochondrial fusion factor Mitofusin 2 (MFN2) as a cause for CMT type 2A (CMT2A), the most frequent (=20%) axonal form of hereditary peripheral ..
  14. Xiongwei Zhu; Fiscal Year: 2016
    ..More importantly, we were able to enhance mitochondrial fusion in vivo by overexpressing Mfn2 expression in hippocampus, which enables us to address these critical gaps in our knowledge in vivo...
  15. Mechanism of Peripheral Neuropathy from Mitofusin 2 Mutations
    Robert Baloh; Fiscal Year: 2011
    ..b>Mitofusin 2 (MFN2) mutations are the most frequently identified cause of the axonal form of CMT (CMT2A), but the mechanism ..
  16. Mitochondrial dynamics in human pulmonary hypertension: a new therapeutic target
    WILLARD WILLIAM SHARP; Fiscal Year: 2013
    ..Access to more human samples from the PHBI will catalyze our efforts to devise new mitochondrial-targeted, antiproliferative PAH therapies. ..
  17. CMT DISEASE--LOCALIZATION AND CLASSIFICATION OF TYPE 2
    Jeffery Vance; Fiscal Year: 1999
    ..We have previously demonstrated linkage-of one form of CMT2, CMT2A, to a small region of chromosome 1p36...
  18. Regulation of Mitochondrial Dysfunction in Diet-Induced Obesity by ALCAT-1
    Yuguang Shi; Fiscal Year: 2013
    ..role of ALCAT1 in regulating mitochondrial fusion and mtDNA fidelity through the modulation of mitofusin-2 (MFN2), a GTPase required for mitochondrial fusion, linking oxidative stress by ALCAT1 to defective mitochondrial quality ..
  19. The molecular mechanisms of mitochondrial behavior.
    Suzanne C Hoppins; Fiscal Year: 2012
    ..In mammals, MFN1 and MFN2 function in place of a single outer membrane DRP in simple organisms, both are expressed ubiquitously but the ..
  20. The mechanism of action of a NudC domain small heat shock protein
    Nicholas J Kaplinsky; Fiscal Year: 2010
    ..Interacting proteins are predicted to include chaperone substrates and HSG proteins, and these interactors will be characterized in order to understand the cellular context in which BOB1 ..
  21. Suzanne C Hoppins; Fiscal Year: 2015
    ..In mammals, MFN1 and MFN2 function in place of a single outer membrane DRP in simple organisms, both are expressed ubiquitously but the ..
  22. JACQUES EDUARDO NOR; Fiscal Year: 2015
    ..tumorigenic cells from a primary human mucoepidermoid carcinoma and from a neoplastic salivary gland cell line (HSG)...
  23. 2013 Parkinson's Study Group Symposium
    Michael A Schwarzschild; Fiscal Year: 2013
    ..Schwarzschild, MD, PhD Abstract The Parkinson Study Group (PSG), in collaboration with the Huntington Study Group (HSG), Dystonia Study Group (DSG), Tourette Syndrome Study Group (TSSG), Cooperative Ataxia Group (CAG), and Tremor ..
  24. Creatine Safety and Efficacy in HD: Coordination and Statistical Supplement
    Giovanni Schifitto; Fiscal Year: 2013
    ..The trial will be conducted under the auspices of the Huntington Study Group (HSG) at approximately 42 sites worldwide...
  25. Bispecific antibody pretargeted immunoPET of prostate cancer
    William A Wegener; Fiscal Year: 2012
    ..binding to the tumor-associated antigen, TROP-2, and another monovalent-binding Fab reactive with the novel hapten, HSG (histamine- succinyl-glycine)...
  26. F-18 Labeled Peptides for Pretargeted PET Imaging of Pancreatic Cancer
    WILLIAM JOHN MCBRIDE; Fiscal Year: 2010
    ..pretargeting system based on the hapten binding specificity of an antibody directed to histamine-succinyl-glycine (HSG)...
  27. Steven M Hersch; Fiscal Year: 2015
    ..of 30 grams daily creatine in 650 symptomatic individuals with HD recruited from about 42 Huntington Study Group (HSG) sites, treated for 36 months to test the hypothesis that it will slow the progressive functional decline of HD...
  28. Jesse Rowley; Fiscal Year: 2016
    ..Together, these preclinical and clinical studies will explore new paradigms in metabolism and thrombosis research in an environment that enhances research career development. ..
  29. Orian S Shirihai; Fiscal Year: 2015
    ..vitro data indicate that fragmentation is mediated by HFC-induced degradation of the mitochondrial fusion protein, Mfn2. Remarkably, we find that in vivo deletion or in vitro knockdown of Mfn2 leads to increased uncoupling, decreased ..
  30. COENZYME Q10 AND REMACEMIDE--EVALUATION IN HD
    Karl Kieburtz; Fiscal Year: 2000
    ..Twenty one research sites of the Huntington Study Group (HSG), under the direction of the principal investigator, steering committee, and advisory/monitoring committees, will ..
  31. Dock and Lock: novel protein engineering
    Chien Hsing Chang; Fiscal Year: 2009
    ..CEA-ImmunoPET is a two-component product system comprising TF2, a trivalent, bispecific, anti-CEA x anti-HSG constructs made by the Dock and Lock (DNL) method, and 68Ga-IMP288, a DOTA- derivatized di-HSG peptide radiolabeled ..
  32. GENE EXPRESSION AND CONTENT IN CELL DIFFERENTIATION
    Giuseppe Attardi; Fiscal Year: 2006
    ..It is also planned to study the effects of hyperexpression of the gene for Mfnl or Mfn2, human homologues of fzo, co-expressed with the gene for a dominant mutant form of Drpl, or the effects in mouse ..
  33. STROMAL EFFECTS ON UMBILICAL CORD BLOOD EXPANSION
    Kristin Goltry; Fiscal Year: 2001
    ..cultures will be validated in the ARS, and clinical trials are proposed to test the safety and efficacy of expanded HSG to augment standard UCB transplants...
  34. Mitochondrial Dynamics in Alcohol-induced Tissue Injury
    David Chan; Fiscal Year: 2009
    ..Mitochondrial fusion is controlled by two mitochondrial outer membrane GTPases called Mitofusin 1 and 2 (Mfn1 and Mfn2), and we have constructed mice with conditional alleles in both...
  35. ION CHANNELS IN SALIVARY GLAND DUCT CELLS
    KENNETH IZUTSU; Fiscal Year: 1993
    ..The studies utilize whole-cell current measurements from unstimulated and muscarinically stimulated HSG-PA tissue culture cells, and single channel current measurements on excised membrane patches from these cells...
  36. PHOSPHOLIPASE C AND CARDIAC HYPERTROPHY
    GERALD DORN; Fiscal Year: 2005
    ..abstract_text> ..
  37. Calpains as Mediators of Cardiac Ischemic Injury
    Gerald W Dorn; Fiscal Year: 2010
    ..Collectively, these studies will apply state-of-the-art techniques for in vivo genetic manipulation, microphysiologic analysis, and biochemical assessment to achieve insight into the roles of myocardial calpains in health and disease. ..
  38. Bispecific Antibody Pretargeting for Therapy
    ROBERT SHARKEY; Fiscal Year: 2009
    ..antigen (CEA) for tumor targeting and monovalent binding to a unique compound, histamine-succinyl-glycine (HSG)...
  39. Identification and characterization of the ALS4 gene
    PHILLIP CHANCE; Fiscal Year: 2006
    ..Specific Aim (5) is to develop an animal model of ALS4 by introducing an identified disease-causing mutation into the germline of the mouse by employing either transgenesis or gene targeting. ..
  40. MOLECULAR BASIS OF HEREDITARY NEURALGIC AMYOTROPHY
    PHILLIP CHANCE; Fiscal Year: 2008
    ..Moreover, characterization of the HNA gene may have broader pathophysiological and therapeutic implications for more common idiopathic forms of brachial neuropathy. [unreadable] [unreadable]..
  41. Improved Detection of Cancer Using Bi Specific Antibody
    ROBERT SHARKEY; Fiscal Year: 2002
    ....
  42. Improved Detection of Cancer Using Bi Specific Antibody
    ROBERT SHARKEY; Fiscal Year: 2003
    ....
  43. Bispecific Antibody Pretargeted Therapy of Pancreatic Cancer
    ROBERT SHARKEY; Fiscal Year: 2008
    ..Overall, these studies will assist in establishing whether this type of pretargeting approach could have a role in the clinical management of pancreatic cancer. [unreadable] [unreadable] [unreadable]..
  44. RAIT of Pancreatic Cancer with Humanized PAM4
    ROBERT SHARKEY; Fiscal Year: 2005
    ..The trial will be conducted at the Garden State Cancer Center and Johns Hopkins University School of Medicine. CMMI will be responsible for monitoring the study's progress. ..
  45. PDE3 Inhibitors: Selective Blockers of Oocyte Maturation
    Jeffrey Jensen; Fiscal Year: 2007
    ..This approach is expected to provide a foundation for future Phase 1 trials of PDE3 inhibitors in humans. ..
  46. Mutational Analyses of Drosophila DJ-1 Homologs
    Leo Pallanck; Fiscal Year: 2005
    ..This work should clarify the normal cellular role of DJ-1 and provide a foundation for further hypothesis-driven investigation of DJ-1 function. ..
  47. Identification of a new protein that binds Src and PKC
    STEPHEN SOLTOFF; Fiscal Year: 2004
    ..Future efforts will determine if this new protein alters cell morphology, tight junction formation, or other functions in salivary cells. ..
  48. In-Vivo Confocal Imaging of Meissner's Corpuscles as a Measure of HIV Neuropathy
    David Herrmann; Fiscal Year: 2008
    ..In-vivo RCM of MCs may prove to have wide application for early identification of sensory peripheral neuropathies, and to assess effectiveness of therapy. [unreadable] [unreadable] [unreadable]..
  49. Parkin mediated Neural Dysfunction in Drosophila
    Leo Pallanck; Fiscal Year: 2004
    ..Results from this work should clarify the relationship between parkin dysfunction and neurodegeneration, and possibly reveal strategies for treatment of Parkinson's disease. ..
  50. Molecular Mechanism of Polarized Cubilin Expression
    JOHN FYFE; Fiscal Year: 2004
    ..Results of these efforts are expected to open a window onto a new aspect of nutrient absorption and membrane receptor biology. ..
  51. Microarrays for Alzheimer's Disease Mouse Models
    P Reddy; Fiscal Year: 2003
    ..The outcome of this proposed investigation will be useful in screening several mitochondrial antioxidants in AD transgenic mouse models as pre-clinical trials of AD patients...
  52. MECHANISM OF CELL-SPECIFIC METALLOTHIONEIN TRANSCRIPTION
    PATRICK DANIELS; Fiscal Year: 2003
    ..abstract_text> ..
  53. Proteomic analyses of Drosophila Parkinson's disease model
    Leo Pallanck; Fiscal Year: 2007
    ..This work should clarify the biological role of Parkin and will serve as a foundation for future hypothesis-driven investigation of parkin pathogenesis. [unreadable] [unreadable]..
  54. MOLECULAR PATHOGENESIS OF FELINE SPINAL MUSCULAR ATROPHY
    JOHN FYFE; Fiscal Year: 2002
    ..Initial candidate genes will be those implicated in human SMA, but otherwise a comparative positional-candidate gene approach will be taken. ..
  55. F-18 FDG Peptides for Pretargeted PET Imaging of Pancrea
    William McBride; Fiscal Year: 2005
    ..pretargeting system based on the hapten binding specificity of an antibody directed to histamine-succinyl-glycine (HSG; 32)...
  56. Epidermal Innervation as an Outcome Measure
    David Herrmann; Fiscal Year: 2006
    ..Dr. Herrmann will also examine a method to simplify the analysis of skin biopsy specimens, for easier application in large clinical trials. ..
  57. AGE RELATED CARDIAC SENSITIVITY TO VOLATILE ANESTHETICS
    Y S Prakash; Fiscal Year: 2001
    ....
  58. SJOGRENS SYNDROME SALIVARY GLAND AND APOPTOSIS
    Howard Dang; Fiscal Year: 2001
    ..Caspase inhibitors will be used to identify specific proteases during apoptosis. Biopsy material from patents with Sjogren's syndrome will be immunostained for bcl-2 family member expression. ..
  59. The function of RhoBTB proteins
    STEPHEN PAUL SOLTOFF; Fiscal Year: 2010
    ..The results of these studies may reveal a new pathway involved in the development of cancer and advance our understanding of the basic biology of transformation. ..
  60. Il-6 type cytokine protection from hyperoxic lung injury
    Aaron Waxman; Fiscal Year: 2007
    ..abstract_text> ..