10 research outputs found
A História da Alimentação: balizas historiográficas
- Author
- ABDALA Mônica Chaves
- ABEL Wilhelm
- ABEL Wilhelm
- ADAMS C. J.
- ADAMS D.
- ADAMS James S
- ALBERT Jean-Pierre
- AlDELLS Bruce
- ALGRANTI Leila Mezan
- AMARAL Luís
- AMOURElTI M. c
- ANDERSON Eugene N
- ANDERSON Eugene N.
- ANDROUET P.
- ANDRÉ J.
- APFELBAUM M
- APPADURAI Arjun
- APPADURAI Arjun
- APPLEBY A
- ARENS W
- ARNABOLDI J
- ARNOLD David
- ARNOTT Margaret
- ARON J.-P.
- ARON J.-P.
- ARON J.-P.
- ARON J.-P.
- ARON Jean-Paul
- ASHLEY Sir William
- ASHTON John
- AURELL Martin
- AYKROYD WR
- AYMARD M.
- AYMARD Maurice
- AYMARD Maurice
- AZEVEDO Esterzilda de
- BACCI Livi
- BALDVS Herbert
- BALL Daniela
- BARKER T. c.
- BARLOSIUS Eva
- BARTHES Roland
- BASINI G.L
- BATAILLE-BENGUlGUI M.C
- BAULANT M.
- BAVER Beatrice
- BEAUREGARD M.
- BEJARANO Jorge Alfonso
- BELASCO Warren
- BELL David
- BENASSAR B. B
- BENNET M. K.
- BENTLEY Amy
- BERGIER J.-E
- BERTHIAUME G
- BERTIN Jacques
- BERTUCCI Liane
- BIRKET-SMITH K.
- BLANC Nicole
- BLOND G
- BlRABEN J.N.
- BOGUCKI Peter
- BOIS D.
- BOLENS Lucie
- BONASSIE Pierre
- BONIN Ana Maria A
- BONNET J.-C
- BOSERUP Ester
- BOURDEAU L
- BOURGAUX A
- BRAA Dean M
- BRADY lvan
- BRANDÃO Darwin
- BRANS JO
- BRAUDEL Fernand
- BRAUDEL Fernand
- BRAUDEL Fernand
- BRENNAN T
- BRESClANI Edda
- BRIFFAULT E
- BRIGNOLI Héctor Pérez
- BRILLAT-SAVARlN J.A
- BROCHADO José Proenza
- BROTHWELL Don
- BROWN L.K
- BRUEGEL M
- BRUN Thierry A
- BRYANT Carol
- BURGUlERE André
- BURNETT J
- BUTEL P
- BYNUM Caroline W
- CALVO I.
- CAMARGO Rogério de
- CAMPORESI Piero
- CAMPORESI Piero
- CANNABRAVA Alice
- CAPLAN Pat
- CARNEIRO Henrique
- CARNEY George O
- CASCUDO Luís da Câmara
- CASCUDO Luís da Câmara
- CASCUDO Luís da Câmara
- CASCUDO Luís da. Câmara
- CASTRO Josué de
- CASTRO Josué de
- CASTRO Josué de
- CASTRO Josué de
- CASTRO Josué de
- CASTRO Josué de
- CASTRO Josué de
- CASTRO Josué de
- CASTRO Josué de
- CAUVIN J
- CEPEDE M.
- CERECEDA Dantin
- CHALONER William Henry
- CHALOUB Sidney
- CHANG Kwang-chih
- CHARBONNIER P
- CHARLES Nicky
- CHARLES Nicky
- CHARSLEY Simon R.
- CHAUDIEU G.
- CHAUNU Pierre
- CHEKE Valerie
- CHONCHOL Jacques
- CHRISPEELS M.J.
- CHRISTO Maria Stella Ubânio de
- CLERGEAUD e
- CLUTTON-BROCK Juliet
- COE Sophie D
- COE Sophie D.
- COHEN M. N
- COHEN M.N
- CONNEL K. H.
- COOK lan
- COOPER Charles
- CORLEY T. E. B.
- COSTA Dante
- COUNlHAN Carole
- COUNlHAN Carole
- COURIE P.
- CRANE E
- CRAPLET e
- CURTIN Deane W
- DALBY Andrew
- DALBY Andrew
- DANDO WA
- DAUPHIN e
- DAVID Louis
- DE BENEDETTIS Renata
- DE LAET Sigfried Jan
- DE NIRO M
- DEERR Noel
- DEL PRIORE Mary
- DENTON Derek
- DESPORTES E
- DETIENNE Mareei
- DION R
- DISNEY A.R
- DODD George
- DORVEAUX P
- DOUGLAS Mary
- DOUGLAS Mary
- DOUGLAS Mary
- DOUGLAS Mary
- DOUGLAS Mary
- DOUGLAS Mary
- DOUGLAS Mary
- DRIVER Christopher
- DRUMOND J. C
- DUBISCH Jill
- DUPIN H
- DÉSERT G
- ECKSTEIN Fritz
- EIRAS ROEL A
- ELIAS Norbert
- ELLEN Roy
- ELLIS Ellen D
- ELLIS Myriam
- ELY Roland T
- ESCUDERO Pedro
- ESPINOSA Alfredo Ramos
- FACCIOLI Emilio
- FALK P.
- FARB P
- FARELL M.H
- FARIA Oswaldo Lamartine de
- FEBVRE I.
- FEELEY-HARNIK Gillian
- FENTON A
- FERLINI Vera Lúcia do Amaral
- FERRONHA António LuísA. Ferronha
- FERRÃO José E. Mendes
- FIDDES Nick
- FIELD R
- FIELDHOUSE Paul
- FIGUEIREDO Luciano R. de Almeida
- FINE Ben
- FINE Gary AIan
- FINKELSTEIN Joanne
- FISCHLER Claude
- FISCHLER Claude
- FISCHLER Claude
- FISCHLER Claude
- FISCHLER Claude
- FISCHLER Claude
- FITCHEN J.M
- FITZGERALD T.K
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FLANDRIN Jean-Louis
- FORREST D. M.
- FORSTER E
- FORSTER Robert
- FOSTER Nelson
- FOURIER Charles
- FOURNIER Dominique
- FRANKLIN T. B
- FREEDMAN R.L
- FREEDMAN R.L
- FREYRE Gilberto
- FREYRE Gilberto
- FRIEIRO Eduardo
- FRIJHOFF W
- GALAVARIS George
- GALVÃO Eduardo
- GAMA Ruy
- GANDHI M
- GARCIA Rosa
- GARINE Igor de
- GARINE lgor de
- GARNSEY P.D.A
- GARRIER G.
- GEREMEK Bronislao
- GIBLIN James Cross
- GIOBELLINA-BRUMANA F.
- GIRARD A
- GOFFON Leslie
- GOLDEN Lilly
- GOODY Jack
- GOTISCHALK A
- GOWERS E
- GRIGNON Claude
- GRIGNON Claude
- GRIGNON Claude
- GRIMM Veronika
- GRONOW Jukka
- GROTANELLI Cristiano
- GROVER Kathryn
- GUEVARA Arturo
- HALPERN PEREIRA M.
- HANN C. M.
- HARDWICH Nikita
- HARRIS Marvin
- HARRlS David R
- HARRlS David R
- HARRlS Marvin
- HARRlS Marvin
- HARRlSON Brian
- HARRlSON Brian
- HAUDRICOURT A.-G
- HELDKE Lisa M
- Henrique Carneiro
- HERPIN N.
- HEYNE Moriz
- HINZ Evelyn
- HOCQUET Jean-Claude
- HOLANDA Sérgio Buarque de
- HOUAISS Antonio
- HUGILL Antony
- HÉMARDINQUER J.J.
- HÉMARDINQUER J.J.
- HÉMARDINQUER J.J.
- HÉMARDINQUER J.J.
- IOSSIFIEDES
- JACOB H.-E.
- JACOB H.-E.
- JEROME N.W
- JOHNSSON M.
- JOHNSTON EE.
- JOHNSTON James P.
- JULIÃO Francisco
- KAPLAN Steve Laurence
- KAPLAN Steve Laurence
- KATES Robert
- KHARE RS.
- KING FrankA
- KNAGGS Henry V.
- KRAUT A.
- KROPOTKIN Piotr
- KUPER Jessica
- LaFOLLETE Robert
- LE ROY LADURIE Emmanuel
- LEACH E
- LEACH Helen
- LEAF Murray J
- LECLANT J
- LEGRAND D'AUSSY Pierre J.B.
- LEIDNER Robin
- LEMERY Louis
- LEMOS Carlos Alberto Cerqueira
- LENTZ Carola
- LEVENSTEIN Harvey A
- LEVENSTEIN Harvey A
- LEVIN
- LICHTENFELT AIfred
- LIFSCHITZ Javier
- LIFSCHITZ Javier
- LIMA Tania Andrade
- LINHARES Maria Yeda
- LINHARES Maria Yedda
- LINHARES Maria Yedda
- LINHARES Maria Yedda
- LINHARES Temístocles
- LIPPMAN Edmund Oskar
- LISANTI Fo Luís
- LISSARRAGUE François
- LISSARRAGUE François
- LIVI-BACCI M
- LLAURIOUX Bruno
- LODY Raul
- LOMBARDO Mario
- LONGO Oddone
- LOPES Renato Souza
- LOVEDAY M
- LOWE Heinz-Dietrich
- LUPTON Deborah
- LUPTON Deborah
- LÉVI-STRAUSS CIaude
- LÉVI-STRAUSS Claude
- LÉVI-STRAUSS Claude
- LÉVI-STRAUSS Claude
- LÉVI-STRAUSS Claude
- MACHEREL Claude
- MACLEAN Virginia
- MADONES G
- Mafalda ZEMELLA
- MAGALHÃES Basílio de
- MAGALHÃES Eduardo Fernandes de
- MALINOWSKI B
- MANDERSON Leonore
- MARCONI Marina de Andrade
- MARENCO C
- MARS Gerald
- MATOSSIAN Mary Kilbourne
- MAURIZIO Adam
- MAURO Frédéric
- MAUÉS Maria Angélica Motta
- MAUÉS Raimundo H
- MAYOLO R
- MAZZINI Innocenzo
- McCANCE Robert A
- McCOLLUM Elmer Verner
- McGEE Harold
- McGOVERN Patrick
- McINTOSH Laine N
- McKEOWN Thomas
- McMILLAN Della E
- MELLO Antônio da Silva
- MELLO Evaldo Cabral de
- MELLO Jorge Saldanha Bandeira de
- MELLO José Antonio Gonçalves de
- MELO Antonio da Silva
- MELO Antonio da Silva
- MENDEL G
- MENNELL Stephen
- MENNELL Stephen
- MENNELL Stephen
- MENNELL Stephen
- MEPHAM Bem
- MESSER Ellen
- MESSÉGUÉ Maurice
- MICHEL Henri
- MIGLIARI M.L
- MILLMAN Sara
- MILLMAN Sara
- MINTZ Sidney W
- MINTZ Sidney W
- MINTZ SidneyW
- MOLLAT M
- MONCKTON H.A
- MONTANARI Massimo
- MONTANARI Massimo
- MONTANARI Massimo
- MONTANARl Massimo
- MONTEIRO Agostinho
- MONTEIRO Mário Ypiranga
- MOREIRA Nicolau joaquim
- MORINEAU M
- MOSKOWITZ H
- MOULIN L
- MOULIN L
- MOUNT J.L
- MOURA Hugo
- MOWAT Linda
- MUCHNIK J
- MURCOTI Anne
- MURCOTI Anne
- MURCOTI Anne
- MURCOTT Anne
- MURCOTT Anne
- MURRAY Oswyn
- MURRAY Oswyn
- NAHOUM-GRAPPE Véronique
- NALLO E. Di
- NELSON M
- NEVEUX H
- NEWMAN Lucile E
- NICOLAlDES Stylianos
- NIELSEN Inge
- NOURISSON Didier
- NOURRISON Didier
- NOVAlS Fernando
- OHNUKI-TIERNEY Emiko
- ORBACH Susie
- ORNELLAS Lieselotte Hoeschl
- ORSTER Elborg
- ORTENCIO Bariani
- ORTIZ Femando
- ORTIZ Femando
- PAIMER Amold
- PAIMER Catherine
- PANCOAST H
- PANTEL Pauline Schmitt
- PARAISO Aviva
- PATRONE A. M
- PENDERGAST Mark
- PEREIRA J
- PERI I
- PESEZ Jean-Marie
- PESSANHA Nely M
- PIERSON Donald
- PIERSON Lionel James
- PILLSBURY Richard
- PIPERNO DoIores R
- PITIE Jean-Robert
- PIUZ A.-M
- POKHLEBKIN William
- POO Mu-chou
- POTTIER Johan
- POULOT Dominique
- PRAKASH O
- PRENTICE Parmalle
- PRICE T. DougIas
- PRICE Weston
- PULLAR P
- PYNSON P
- QUIGLEY D.T
- RAINWATER Dorothy
- RAMINELLI Ronald
- REDDING Richard W
- REED William
- REEDS J.A
- RENFREW Colin
- RENFREW J
- RENNER H. D
- REVEL Jacques
- REVEL Jean François
- REVEL Jean François
- RIBEIRO Berta G
- RIBEIRO Joaquim
- RICHARDS Audrey 1
- RICHARDS Audrey 1
- RITCHIE Carson I.A
- RIVERS J
- ROBSON John R.K
- ROCHE Daniel
- RODINSON M
- Rom Bodris
- ROOT Waverly
- ROSALDO M.Z
- ROSEBERRY William
- ROSS E
- ROTBERG R.I
- ROWLEY Aothony
- ROYER c
- ROZIN Elizabeth
- SABBAN Françoise
- SABBAN Françoise
- SAHLINS Marshall
- SAHLINS Marshall
- SAILLENPEST J
- SALAMAN Redcliffe N
- SALDANHA Nelson
- SAMPAIO A.J
- SANTOS Carlos Roberto Antunes dos
- SCARANO Julita
- SCARANO Julita
- SCARPI Paolo
- SCHIVELBUSCH Wolfgang
- SCHWARTZ Hillel
- SCHWARTZ Stuart B
- SCRIMSHAW Nevin S
- SEEGER Anthony
- SEN Amartya K
- SENTIERI M
- SERED Susan Starr
- SHAND P.M
- SHAW T
- SHELTON Allen
- SHELTON Walter James
- SHEPPARD Ronald
- SILVA Francisco Carlos Teixeira da
- SILVA Francisco Carlos Teixeira da
- SILVA G.J. da Rosa e
- SILVA Maria Beatriz Nizza da
- SILVA Maria Beatriz Nizza da
- SIMMEL Georg
- SIMON André
- SIMOONS Fredericky
- SLATER WJ
- SLOCUM S
- SMART Barry
- SMITH Bruce D
- SMITH R.E.E
- SOLER Jean
- SOLER Jean
- SORRO M
- SOUTO MAIOR M
- SOUTO MAIOR M
- SOUTO MAIOR M
- SOUTO MAIOR Mário
- SPENCER Colin
- STEAD J
- STERN Radu
- STEWART A
- STOIANOVITCH T
- STOIANOVITCH T
- STOUFF Louis
- STRONG 1.A.G
- STRUNG Norman
- STUYVENBERG J. H. Van
- SUPER John C
- SUTTON David C
- SUTTON David C
- SUYEUX J
- TANNAHILL Reay
- TARRANT J
- TAUNAY Affonso d'E
- TCHERNIA A
- TELEKI G
- TELFER Elizabeth
- TEMPLE F.-J
- TEUTEBERG H.-J
- TEUTEBERG Hans-Jürgen
- TEUTEBERG Hans-Jürgen
- THIEL Barbara
- TOMUSON A
- TOUSSAINT-SAMAT Maguelonne
- TOUTAIN J.-C
- TRAGER James
- TUZIN D
- TWIGG J
- TWINING Stephen H
- UKERS WH
- Ulpiano T.Bezerra de Meneses
- UNWIN T
- V1SSER Margaret
- VAILLANT G.E
- VALENTINE Gill
- VALERI René
- VAN BATH B.H
- VAN DEN BERGHE Pierre
- VANDENBROEKE Christiaan
- VANDENBROEKE Christiaan
- VARELLA J.S. das Chagas
- VEDEL J
- VELHO Octávio Guilherme
- VELOSO Carlos
- VELOSO Cleto Seabra
- VERDIER Y
- VIALLES Noelle
- VINCENT B
- VOLPATO G
- WALDORF Cornelius
- WATSON B
- WATSON James
- WATT James
- WAUGH A
- WEISMANTEL Mary
- WIDDOWSON J
- WIEGELMANN Günter
- WIESSNER Polly
- WILDT Michael
- WILKINS Jobo Harvey
- WILLIAMS Robert G
- WILSON C.S
- WILSON Constance Anne
- WOOD R
- WOORTMAN Klaas
- WOORTMANN Klaas
- WYNNE-TYSON J
- YOUNG L
- YUDKIN John
- YVOREL Jean-Jacques
- ZEUNER E E
- ZILHR W
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- 01/01/1997
- Field of study
Os M. pretenderam traçar um quadro da História da Alimentação, não como um novo ramo epistemológico da disciplina, mas como um campo em desenvolvimento de práticas e atividades especializadas, incluindo pesquisa, formação, publicações, associações, encontros acadêmicos, etc. Um breve relato das condições em que tal campo se assentou faz-se preceder de um panorama dos estudos de alimentação e temas correia tos, em geral, segundo cinco abardagens Ia biológica, a econômica, a social, a cultural e a filosófica!, assim como da identificação das contribuições mais relevantes da Antropologia, Arqueologia, Sociologia e Geografia. A fim de comentar a multiforme e volumosa bibliografia histórica, foi ela organizada segundo critérios morfológicos. A seguir, alguns tópicos importantes mereceram tratamento à parte: a fome, o alimento e o domínio religioso, as descobertas européias e a difusão mundial de alimentos, gosto e gastronomia. O artigo se encerra com um rápido balanço crítico da historiografia brasileira sobre o tema
Genetic Analysis of Protein Folding Pathways
- Author
- Alber T.
- Beasty A.M.
- Berget P.B.
- Bierzynski A.
- Blond S.
- Bonadio J.
- Brems D.N.
- Carrell R.W.
- Craig S.
- Craik C.S.
- Creighton T.E.
- Creighton T.E.
- Fersht A.R.
- Gibson R.
- Goldenberg D.
- Goldenberg D.
- Goldenberg D.P.
- Goldenberg D.P.
- Grutter M.G.
- Harrison S.C.
- Hawkes R.
- Hecht M.H.
- Hecht M.H.
- Kabsch W.
- Kaiser E.T.
- Kim P.S.
- Kleid D.G.
- Krebs H.
- Kuwajima K.
- Lau J.T.Y.
- Light A.
- Lin S.H.
- Masui Y.
- Matthews C.R.
- Miller J.H.
- Mitchinson C.
- Muller K.
- Pless D.D.
- Prockop D.J.
- Rose G.L.
- Sadler J.R.
- Sauer R.T.
- Schoner R.G.
- Shire S.J.
- Shortle D.
- Smith D.H.
- Smith D.H.
- Steinman B.
- Thomas G.L.
- Villafranca J.E.
- Yu M.-H.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
BiP and Immunoglobulin Light Chain Cooperate to Control the Folding of Heavy Chain and Ensure the Fidelity of Immunoglobulin Assembly
- Author
- Amzel L.M.
- Blond-Elguindi S.
- Bole D.G.
- Brandt C.R.
- Brightman S.E.
- Bukau B.
- Dul J.L.
- Elizabeth Craig
- Frydman J.
- Gardner A.M.
- Gething M.J.
- Goto Y.
- Gross M.
- Haas I.G.
- Hellman R.
- Hendershot L.
- Hendershot L.
- Ho S.N.
- Hohfeld J.
- Hohfeld J.
- Joseph W. Brewer
- Kaloff C.R.
- Knittler M.R.
- Kudo A.
- Leitzgen K.
- Liberek K.
- Lilie H.
- Linda M. Hendershot
- Liu A.Y.
- Ma J.
- Morrison S.L.
- Rachel Hellman
- Sakaguchi N.
- Seligmann M.
- Sitia R.
- Skowronek M.H.
- Wei J.-Y.
- Young-Kwang Lee
- Publication venue
- 'American Society for Cell Biology (ASCB)'
- Publication date
- Field of study
Coma in infants and children: initial management
- Author
- A. Bansal
- A. Fetveit
- A. Schneier
- A.R. Joffe
- A.S. Clay
- A.S. Lebas
- A.V. Levin
- B. Viguéa
- C. Hannah
- C. Madre
- C. Michot
- C. Witmera
- C.P. Wong
- D. Ledoux
- D. Levin
- D. Oriot
- D.J. Michelson
- E. Guenther
- F. Khodapanahandeh
- F. Masson
- F. Plum
- F. Tagliaferri
- F.J. Kirkham
- H. Hakan Gumus
- H. Ogier de Baulny
- H. Outin
- H. White
- J. Glasgow
- J. Naudin
- J. Pappachan
- J.L. McClave
- J.M. Guérit
- J.W. Huh
- K. Choong
- K.A. Neville
- L. Mascia
- L. Stead
- L.J. Morrison
- M. Ciocca
- M.H. Blond
- M.L. Moritz
- M.P. Alvarez
- N.A. Carney
- O. Brissaud
- O. Noizet-Yverneau
- P. Gerber
- P. Monagle
- P. Sachs
- P. Zeitler
- P.E. Bollaert
- P.H. Pangilinan
- R. Leelanukrom
- S. Aizenfisz
- S. Dauger
- S. Fleming
- S. Gwer
- S. Nathanson
- S.R. Reid
- T.A. Andrew
- V. Meau-Petit
- W.J. Oliver
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Élaboration et diffusion dans un réseau de santé en périnatalité de recommandations concernant les « Soins au nouveau-né normal dans les deux premières heures »
- Author
- A. Behring
- A. Bergstrom
- A. Dave
- A. Sipek
- A. Whitelaw
- A.L. Fransson
- A.M. Widstrom
- A.M. Widström
- B. Branger
- B. Branger
- C. Chaparro
- C. Savagner
- C.H. Raskind
- D.J. Burchfield
- E. Kpemissi
- F. Drosten-Brooks
- F. Gold
- F. Gold
- G. Gremmo-Feger
- G. Gremmo-Feger
- G. Seguin
- G.C. Anderson
- H. Gatti
- H. Varendi
- H. Varendi
- H. Wallace
- International Liaison Committee on Resuscitation
- J. -P. Brossier
- J. Hayes
- J. Kennel
- J. Leraillez
- J. Rodriguez-Alarcon
- J. Rodriguez-Alarçon
- J.W. Simon
- K. Bystrova
- K. Christensson
- K. Christensson
- K. Christensson
- K. Christensson
- K. Meyer
- K. Mikiel-Kostyra
- K. Mizuno
- K.J. Anand
- K.J. Anand
- L. Fransen
- L. Righard
- L. Storme
- L.C. Mullany
- L.J. Grylack
- M. Carrasco
- M. Carrasco
- M. Dehan
- M. Herida
- M.B. Forrester
- M.H. Blond
- M.R. Hammerzschlag
- N. Charpak
- N. Winer
- P. Chateau de
- P.C. Estol
- R.P. Mondlane
- S. Espagne
- S. Polberger
- S.A. Sadek
- S.G. Ferber
- S.J. Isenberg
- T. Mazurek
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Recognition and Delivery of ERAD Substrates to the Proteasome and Alternative Paths for Cell Survival
- Author
- A. Ahner
- A. Bertolotti
- A. Helenius
- A. Weihofen
- A.A. McCracken
- A.A. McCracken
- A.A. McCracken
- A.R. Sawkar
- B. Kleizen
- B. Levine
- B. Ravikumar
- B. Tsai
- B.C. Braun
- B.K. Tamarappoo
- B.M. Wilkinson
- B.N. Lilley
- B.P. Young
- C. Lee
- C. Patil
- C. Ritter
- C. Rodighiero
- C. Taxis
- C.E. Shamu
- C.M. Coughlan
- C.M. Coughlan
- C.M. Haynes
- C.M. Pickart
- C.R. Brown
- C.S. Gassler
- C.W. Liu
- D. Finley
- D. Qu
- D. Schmid
- D. Voges
- D.A. Lomas
- D.A. Lomas
- D.D. Mosser
- D.E. Dimcheff
- D.T. Ng
- D.T. Rutkowski
- E. Hong
- E. Jarosch
- E. Strickland
- E.D. Deeks
- E.D. Spear
- E.D. Werner
- E.J. Wiertz
- E.S. Trombetta
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- Publication venue
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- Publication date
- 01/01/2005
- Field of study
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2016
- Field of study
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10 -8) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10 -10). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes. © 2016 Nature America, Inc
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2020
- Field of study
Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an approach rarely results in the identification of functional variants implicating a defined gene in the disease process. We now performed a transcriptome-wide association study (TWAS) allowing the prediction of effects of AMD-associated genetic variants on gene expression. The TWAS was based on the genotypes of 16,144 late-stage AMD cases and 17,832 healthy controls, and gene expression was imputed for 27 different human tissues which were obtained from 134 to 421 individuals. A linear regression model including each individuals imputed gene expression data and the respective AMD status identified 106 genes significantly associated to AMD variants in at least one tissue (Q-value < 0.001). Gene enrichment analysis highlighted rather systemic than tissue- or cell-specific processes. Remarkably, 31 of the 106 genes overlapped with significant GWAS signals of other complex traits and diseases, such as neurological or autoimmune conditions. Taken together, our study highlights the fact that expression of genes associated with AMD is not restricted to retinal tissue as could be expected for an eye disease of the posterior pole, but instead is rather ubiquitous suggesting processes underlying AMD pathology to be of systemic nature. © 2020, The Author(s)
The Unfolded Protein Response
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- Publication venue
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- Publication date
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- Field of study
The Mesothelium and Its Reactions: A Review
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