Encyclopedia of Molecular Mechanisms of DiseaseFlorian Lang This comprehensive encyclopedia supplies the reader with concise information on the molecular pathophysiology of disease. Entries include defined diseases (such as Parkinson's disease) as well as pathophysiological entities (such as tremor). The 1,200 essays are brilliantly structured to allow rapid retrieval of the desired information. For more detailed reading, each entry is followed by up to five references. Individual entries are written by leading experts in the respective area of research to ensure state-of-the-art descriptions of the mechanisms involved. It is an invaluable companion for clinicians and scientists in all medical disciplines. |
Contents
List of Contributors | lxxiv |
JULIA LÜBLIGHOFF MALCOLM A LYONS | lxxv |
DANIEL MARKOVICH Institute of Human Genetics | lxxvi |
ZBIGNIEW KALARUS CHAM PION | lxxvii |
REES JOACHIM RICHTER | lxxviii |
FLORIAN LANG LARRY LATSON | lxxx |
GARDINER HANSJÜRGEN GDYNIA | lxxxi |
CENGIZ KORKMAZ ABHIJIT V KSHIRSAGAR | lxxxii |
RUICHENG J I Belgium | 976 |
Department of Emergency and Critical Care Medicine Ospedali Riuniti Umberto I GM Lancisi G Salesi di | 998 |
Department of Intensive Care Medicine CHRISTINE LIANG | 1008 |
KEITH JR MARKUS KHALIL | 1011 |
JAN EHRCHEN HOLGER K ELTZSCHIG | 1014 |
CARLO A LACKERBAUER RISTO KAAJA | 1028 |
miyagigancen asahi yokohama jp mohammadsaturn med nyu | 1037 |
ALBERTO FERLIN | 1050 |
ERIC GERSHWIN ROBERTO GIORDA | lxxxiii |
MARTIN Department of Human Genetics | lxxxiv |
PHILLIP GORDEN ALEXEI GRATCHEV | lxxxv |
JAN MONCOL Center for Medical Genetics | lxxxvi |
List of Contributors | lxxxvii |
Viral Oncology Program | lxxxviii |
OLAV A GRESSNER JEANMARC GUETTIER | lxxxix |
SAURABH K GARG University Hospital Leuven | xc |
RONNIE FASS DOMINIQUE FIGARELLABRANGER | xci |
Karolinska University Hospital Huddinge | xciii |
NAOTO KURODA | xciv |
Clinical Institute of Medical and Chemical Laboratory | 1 |
THOMAS A LUGER Department of Chemistry and Biochemistry | 7 |
Sweden THOMAS C HART | 17 |
DEEPAK KAMAT University of Louisville | 22 |
PETER HEUTINK | 24 |
School of Biochemistry Meyer Childrens Hospital | 31 |
UNER KAYABAS | 36 |
HIDETO KAMEDA INSERM | 39 |
Emma Childrens Hospital Manchester | 53 |
STEFAN KINS | 69 |
SIM KUTLAY | 72 |
Royal Free Hospital GEORG MERKER | 86 |
LIMES Institute Program Unit Membrane Biology Lipid ALBERT SCHINZEL | 89 |
Department of Medical Microbiology and Infectious Diseases University of Heidelberg | 109 |
CHRISTOPH LICHT | 123 |
PAVEL FENCL Bavarian Health and Food Safety Authority | 126 |
LAURENT SCHILD ERWIN SCHLEICHER | 132 |
ARTHUR MELMS University of Siena Siena | 133 |
PETER FERENCI Grand Forks | 158 |
France COLIN A JOHNSON | 161 |
Division of Medical Genetics Virginia Commonwealth University | 172 |
NADA KANAAN | 197 |
LEONARD Department of Pediatrics | 202 |
HIROSHI ICHINOSE | 213 |
Potchefstroom Israel | 221 |
DENIS J HEADON | 232 |
erhardtuniduesseldorf de DAVID B EVERMAN | 237 |
HARDALLY R HEGDE markus hengstschlaegermeduniwien ac | 248 |
MICHAEL P KEANE | 249 |
Department of Dermatology University of California | 259 |
JOHN LOGAN Universitat de Barcelona | 266 |
H PETER RODEMANN | 268 |
Belfast City Hospital Barcelona | 276 |
Japan Westmead Hospital | 279 |
Tuebingen LODEWYK J MIENIE | 283 |
KATJA LOHMANN University of DuisburgEssen | 284 |
Department of Medicine NIR KFIR | 298 |
Vienna Medical University | 312 |
Departments of Nephrology and Radiology TAKATOSHI KASAI | 314 |
GABRIELE E LANG ELANA LAVINE | 342 |
b t polltheamc uva nl DOMINIQUE PRIÉ | 344 |
Turkey Edinburgh | 353 |
Reinier van Arkel GroupJeroen Bosch Hospital Germany | 364 |
WHITNEY A HIGH MARY H HOHENHAUS | 370 |
HERMANNJOSEF GRÖNE OLIVIER GUILBAUD Université René Descartes | 396 |
AMAJ IKOMI njacquesdental wsahs nsw gov | 399 |
TAL GEVA Section of Dermatology | 412 |
Department of Cardiology University of Verona | 419 |
MONIKA FLECKENSTEIN DIEGO FRANCO | 428 |
Japan | 429 |
fhildeumich | 442 |
femartindentistry usyd edu | 447 |
KEI INAI Guenzburg | 448 |
KAMLUN ELLIS | 458 |
JANLUUK HILLEBRANDS STEPHEN T HOLGATE | 464 |
Department of Environmental and Biomolecular Systems Leuven | 470 |
University of Heidelberg | 482 |
Department of Pediatric Cardiology Germany | 489 |
BIRGIT HAACK Saint Joseph University Beirut | 497 |
Boston MA Italy | 501 |
ANDREAS FRITSCHE KEIICHI FUKUDA | 521 |
JESSE ROMAN Department of Cell Biology Immunology Section | 526 |
DIMITRIOS SAMONAKIS REGINALD S SAUVE | 549 |
University of Luebeck Germany | 558 |
Mannheim University of Heidelberg GREGORY Y H | 579 |
Germany ANDREAS HAHN | 595 |
PhillipGintra niddk nih | 602 |
RICHARD G HEGELE r c hennekamamc uva | 603 |
F DENNIS MCCOOL Department of Cell Biology and Anatomy | 607 |
WILLIAM JEFFCOATE Leeds | 611 |
MARTIN MEMPEL South Africa | 620 |
J OOST HAAN University of Giessen and Marburg | 629 |
SULTAN AYOUB MEO Milan | 637 |
USA Greece | 639 |
UNDINE E LANG | 648 |
HO SUNG KANG | 651 |
Medical University Vienna | 657 |
ANNSOFIE HANSSON GERD HASENFUSS | 660 |
AXEL LORENTZ | 669 |
LIDIA LARIZZA lemerrernecker | 673 |
Department of Medicine University of Regensburg Medical Centre | 679 |
THOMAS A FLEISHER | 684 |
Sahlgrenska University Hospital GeorgAugustUniversity Goettingen | 686 |
Royal Free Hospital The University of Calgary | 693 |
Molecular Genetics Laboratory TATSURO KONDOH | 700 |
dal16cam ac uk RICHARD LORENZ | 701 |
Department of Nephrology | 714 |
ULRICH HEININGER werner hepptklinikumkarlsruhe | 723 |
College of Medicine | 729 |
KONRAD SANDHOFF Australia | 737 |
Ankara University School of Medicine devermanggc | 739 |
ISMAT GHANEM Department of Anatomy and Embryology | 748 |
MIRANDA LOMER Ulm University | 750 |
Department of Laboratory Medicine JORGE FRANK | 752 |
UKBB DAVID N HERRMANN | 754 |
Department of Molecular Biology CLIFFORD E KASHTAN | 758 |
KLAUS RUETHER | 765 |
King Khalid University Hospital MASSIMILIANO MIRABELLA | 772 |
Y J AMES KANG SURENDER KASHYAP | 782 |
Nottingham GRAEME JONES | 785 |
LEPPER | 787 |
National Institute of Health DHHS University Medical Center Maastricht | 802 |
Department of Medicine II Gastroenterology Hepatology London Health Science Centre | 811 |
JUSTINE H S FONG KAREL FRASCH | 834 |
HEIMO MAIRBÄURL Deparment of Neurophysiopathology | 841 |
NYHAN | 847 |
TOBIAS HEINTGES David_Herrmannurmc rochester | 849 |
heimo mairbaeurlgmx de MARINA MARCHETTI | 852 |
neuropathounikoeln | 854 |
Georgetown University Heidelberg | 856 |
OLIVER SCHILDGEN | 858 |
ELIZABETH MCCREADY Clinic of Dermatology | 877 |
TOMMY MARTINSSON KIRK J MAURER | 882 |
JOAQUIN ESCRIBANO Academic Centre for Dentistry University of Amsterdam and VU University Amsterdam | 886 |
Department of Internal Medicine Bethesda MD | 894 |
Kingdom of Saudi Arabia Rome | 897 |
PHILIP F GIAMPIETRO Internal Medicine Division | 899 |
Department of Pediatrics ALEXANDER OLIVARESREYES | 903 |
MonashHeart SYED HASSAN | 916 |
and Westmead Centre for Oral Health MASAOMI NANGAKU | 933 |
Atlanta GA The Netherlands | 937 |
REJIN KEBUDI nir_kfirhotmail | 954 |
SIMON H PEARCE FABIENNE PICARD | 962 |
Pediatric University Hospital Şişli İstanbul | 971 |
Duesseldorf ANNETTE RICHTERUNRUH | 972 |
USA India | 974 |
richard harpermed monash edu au hzaidiellipsisbiotherapeutics | 1056 |
Germany HeinrichHeineUniversity | 1069 |
james_powersurmc rochester edu IRCCS Fondazione Maugeri | 1078 |
ROLAND REINEHR annette richterunruhendokrinologikum | 1086 |
JOHANN OCKENGA Italy | 1097 |
University of Cologne KHALID HUSSAIN | 1120 |
Department of Dermatology | 1121 |
University Hospital of Muenster San Diego | 1134 |
JOHN NEWSOMDAVIS Chiba | 1137 |
ZVI LARON Department of Nutritional Medicine | 1142 |
Heartcenter Cardiology ANDREAS JANECKE | 1143 |
JEAN MARIE SAUDUBRAY Section Neurobiology of the | 1144 |
jescribanogrupsagessa com JUSTIN A EZEKOWITZ | 1150 |
ZMBH THOMAS KLOPSTOCK | 1152 |
GEORGE E EHRLICH holger eltzschiguchsc | 1156 |
alberto felrinunipd it ANTONELLA FIORAVANTI | 1181 |
NILS PETERS Dipartimento di Medicina Interna | 1204 |
Tuebingen Japan | 1210 |
Department of Neurology Università degli Studi di Firenze | 1223 |
Department of Anatomy Biology and Medicine francois jouretnefr ucl ac | 1225 |
CHRISTIAN POX Italy | 1237 |
KLAUS PFEFFER ELENA PISCHIK | 1241 |
University Muenster BERNHARD SCHMIDT | 1253 |
Department of Medical Genetic Services Hebrew UniversityHadassah Medical School | 1264 |
University Hospital Duesseldorf MARKUS J RIEMENSCHNEIDER | 1286 |
JULIAN F B MERCER | 1288 |
JÜRGEN KOHLHASE Departments of Internal Medicine and Integrative Biology | 1292 |
hillebrandsmed umcg nl s holgatesoton ac | 1308 |
USA Israelbengcc huji ac il | 1313 |
Japan KARIN J URKATROTT | 1314 |
University of Bern New York University School of Medicine | 1342 |
HEATHER E MCDERMID DAVENDRA MEHTA | 1353 |
HOLGER LERCHE CHANGHONG LI | 1373 |
Germany GeorgAugustUniversity Goettingen | 1374 |
University of Padova | 1375 |
Bochum PETER PROPPING | 1381 |
ERIC P HOFFMAN ihmrcdunn cam ac | 1384 |
PETER HACKMAN RIIKKA H HÄMÄLÄINEN | 1388 |
USA david gelleryale | 1413 |
Department of Dermatology and Cutaneous Biology Karin jurkatrottuniulm | 1415 |
Hepatology and Endocrinology BOB OLSSON | 1421 |
Department of Dermatology URSULA KNIRSCH | 1422 |
UK Section of Sleep | 1429 |
Philadelphia PA ORLANDO GUNTINASLICHIUS | 1431 |
Stephan Froehlichmed unimuenchen de Paris France | 1446 |
NARAIN MOORJANI School of Molecular and Clinical Medicine | 1457 |
Edmonton AB Mount Sinai Hospital and School of Medicine | 1479 |
Japan London | 1482 |
RICHARD E GILBERT HANS H GOEBEL | 1493 |
Department of Psychological Medicine | 1507 |
Hospital for Sick Children Division of Orthopedics and | 1520 |
MICHAEL ESCUDIER Walter Mackenzie Center | 1531 |
Ulm University of Pennsylvania School of Medicine | 1535 |
EIJI ITOI Andreas Janeckeimed ac | 1536 |
SABINE KRAUSE | 1542 |
GILCHRIST Department of Dermatalogy Venereology and Allergology | 1543 |
Bone Research Programme ALBRECHT HESSE | 1544 |
University of ErlangenNuremberg FELIX G RIEPE | 1570 |
LUNDGREN Institute of Medical Microbiology and Hospital Hygiene | 1573 |
Clinical Physiology | 1590 |
Germany Department of Pediatrics | 1593 |
Germany Gothenburg | 1605 |
MCGILL LAXMI S MEHTA | 1609 |
JAN RÉMI Kiel | 1617 |
schillmunimuenster de Goettingen | 1621 |
Department of Biochemistry and Medical Genetics | 1624 |
Department of General Surgery WOLFRAM TRUDO KNOEFEL | 1625 |
HENK EIJER Austria | 1631 |
KAREL PACAK Russia | 1636 |
Sonnenhof Clinic FUMIO ENDO | 1638 |
USA PRADEEP V KADAMBI | 1639 |
RICHARD W LIGHT marita lipsanenhus | 1656 |
rlight98yahoo com Klinikum Hanau Hanau | 1663 |
ABDULLAH F MOBEIREEK | 1666 |
DANIELA ESER LYNETTE D FAIRBANKS | 1670 |
CLAUS FERDINAND EISENBERGER | 1673 |
SERGIO A JIMENEZ Chicago IL | 1675 |
Department of Epileptology J UTTA ENGEL | 1691 |
NICOLA LONGO Institute of Pathology Clinic of Dortmund gGmbH | 1694 |
Department of Medicine RADOSŁAW LENARCZYK | 1713 |
GEORGE W PADBERG Medicine | 1732 |
Department of Biological Chemistry CARLOS GALLIANI | 1755 |
Canada MARY REDMOND HUTSON | 1760 |
HIROMU MORI Hospital for Psychiatry and Psychotherapy | 1762 |
MARIAT KRAUTH | 1766 |
ATTEYETALLA FETOUH YASSIN Department of Clinical Medicine and Immunological Sciences | 1774 |
AINU PRAKASHCHENG Germany | 1780 |
Foresterhill Aberdeen Bonn | 1788 |
FriedrichSchillerUniversity | 1792 |
Childrens National Medical Center FRANK G HOLZ | 1803 |
Germany Department of Medical Biology Gulhane Medical Academy | 1805 |
Institute of Physiology YRJÖ KONTTINEN | 1806 |
Division of Nephrology Giessen University | 1807 |
Heidelberg | 1810 |
GOO TAEG OH GUIDO OPPIDO | 1811 |
TAM NGUYEN Germany | 1813 |
LING J ING jens kadenmed ma uniheidelberg | 1822 |
NIDDK National Institutes of Health Wake Forest University School of Medicine | 1823 |
Berlin HARJOT K SAINI | 1830 |
Research and Development SHIMON SAKAGUCHI | 1836 |
MedicalUniversity of Innsbruck Cook Childrens Hospital | 1842 |
CHRISTINE KLEIN knoefelmed uniduesseldorf | 1850 |
JOHN A MCGRATH | 1869 |
Tohoku University School of Medicine PETER L M JANSEN | 1872 |
Germany Tuebingen | 1896 |
Munich MARCELLA RIETSCHEL | 1898 |
Department of Psychiatry | 1899 |
SOPHIE NICOLE Germany | 1901 |
ALFRIED KOHLSCHÜTTER | 1918 |
GIORA Z FEUERSTEIN Department of Dermatology Venerology and Allergy University Hospital SchleswigHolstein | 1925 |
Division of Nephrology and Hypertension MARKUS K | 1931 |
SYLVAIN LATOUR JYHYEUAN | 1941 |
REULECKE Germany | 1944 |
SARAH H ELSEA regina ensenauermed unimuenchen | 1947 |
University of Muenster Service | 1980 |
Center of Neurology INSERM Hôpital Necker EnfantsMalades | 2001 |
HILMAR PRANGE | 2011 |
JULIA HORN Durham | 2019 |
Taipei Medical University Czech Republic | 2021 |
Department of Neurology HERVÉ | 2030 |
Germany IvorGadhb govt | 2041 |
Germany JAMES HYLAND | 2046 |
jason huanguphs upenn | 2052 |
University Hospital of Muenster MARC RIGHINI | 2056 |
FABRIZIO GUARNERI sefguranyahoo | 2089 |
USA ELAN D LOUIS | 2103 |
Pacific Parkinsons Research Centre | 2112 |
HENA R RAMAY Paris | 2123 |
ROBERTO MANFREDI CARLA MARINI | 2128 |
Hematology Depatment JOHANNES C NOSSENT | 2131 |
LudwigMaximilianUniversity Munich KHASHAYAR SAKHAEE | 2151 |
Clinic for Immunology | 2172 |
TOBIAS A RUPPRECHT Khashayar Sakhaeeutsouthwestern | 2200 |
Department of Nephrology and Endocrinology CARLO PACE NAPOLEONE | 2209 |
Policlinico Universitario PAVEL GUREVICH | 2225 |
IRENE GUERRINI | 2239 |