PROGRAMAS DE ACTIVIDADES DE I+D EN BIOMEDICINA, ENTRE GRUPOS DE INVESTIGACIÓN DE LA COMUNIDAD DE MADRID

Convocatoria 2010 - S2010/BMD-2439 - VISIONANIMAL-CM                               

MODELOS ANIMALES PARA EL ESTUDIO DE ENFERMEDADES DE LA VISIÓN

   

 

Portada

Grupos participantes

Empresas y entidades asociadas

Objetivos y líneas de investigación

Oferta de servicios científico-tecnológicos

Formación - Ofertas de empleo

Difusión

Resultados

Contacto

 

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TESIS

Título: Alteraciones visuales en un modelo animal de albinismo

Doctoranda: Esther Zurita Redondo

Universidad: Universidad Autónoma de Madrid

Año: 2012

Calificación: Apto cum laude

Dirección: Lluís Montoliu (CNB)

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Título: Generación de nuevos modelos animales para el estudio de la enfermedad de Alzheimer

Doctorando: Diego Muñoz Santos

Universidad: Universidad Autónoma de Madrid

Año: 2012

Calificación: Apto cum laude

Dirección: Lluís Montoliu (CNB) y Fernando Valdivieso

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Título: Distroglicanopatías: estudios genéticos y funcionales de la glicosiltransferasa POMGNT1. Caracterización glicoproteómica del alfa-distroglicano nativo de ratón

Doctorando: Madalina Raducu

Universidad: Universidad Autónoma de Madrid

Año: 2012

Calificación: Apto cum laude

Dirección: Jesús Cruces (UAM)

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..PATENTES

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Título: Nuevo modelo animal de acromatopsia

Inventores: Esther Zurita* (1), Pedro de la Villa (4), Almudena Fernández*(3), Anna González-Neira (2), Javier Benítez (2), Lluís Montoliu (1)

Instituciones: CSIC (1), CNIO (2), CIBERER (3), UAH (4)

(*): miembros del laboratorio de Lluís Montoliu (CNB)

Fecha de prioridad: 18 de Agosto 2012

Institución que la gestiona: CSIC - Lluís Montoliu (CNB)

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..GUÍAS Y LIBROS PARA PACIENTES DE ENFERMEDADES PARA LA VISIÓN 

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WEB: ALBINO WEB: página web sobre albinismo en español

Última actualización: 18 de Abril de 2013

Responsable: Lluís Montoliu (CNB)

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LIBRO: ALBINISME: une condition génétique, deux realités: l'Espagne et le Sénégal

Traducción al francés del libro "Albinismo: una condición genética, dos realidades: España y Senegal" (originalmente publicado por ALBA en 2009): Julio de 2012

Responsable: genespoir / ALBA, Participante: Lluís Montoliu (CNB)

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.PUBLICACIONES

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Los IP de los grupos participantes se han resaltado en las siguientes publicaciones. Los investigadores contratados a cargo de este proyecto se han resaltado en las siguientes publicaciones.

Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8.

Montoliu L. Snowflake: albinismo and conservation. Pigment Cell Melanoma Res. 2013 Nov;26(6):786-7.

Mártinez-García M, Montoliu L. Albinism in europe. J Dermatol. 2013 May;40(5):319-24.

López-Jiménez A, Walter NA, Giné E, Santos Á, Echeverry-Alzate V, Bühler KM, Olmos P, Giezendanner S, Moratalla R, Montoliu L, Buck KJ, López-Moreno JA. A spontaneous deletion of α-synuclein is associated with an increase in CB1 mRNA transcript and receptor expression in the hippocampus and amygdala: effects on alcohol consumption. Synapse. 2013 Jun;67(6):280-9.

Kollmus H, Post R, Brielmeier M, Fernández J, Fuchs H, McKerlie C, Montoliu L, Otaegui PJ, Rebelo M, Riedesel H, Ruberte J, Sedlacek R, de Angelis MH, Schughart K. Structural and functional concepts in current mouse phenotyping and archiving facilities. J Am Assoc Lab Anim Sci. 2012 Jul;51(4):418-35.

Tiana M, Villar D, Pérez-Guijarro E, Gómez-Maldonado L, Moltó E, Fernández-Miñán A, Gómez-Skarmeta JL, Montoliu L, del Peso L. A role for insulator elements in the regulation of gene expression response to hypoxia. Nucleic Acids Res. 2012 Mar;40(5):1916-27.

Montoliu L. Mendel: a simple excel workbook to compare the observed and expected distributions of genotypes/phenotypes in transgenic and knockout mouse crosses involving up to three unlinked loci by means of a χ2 test. Transgenic Res. 2012 Jun;21(3):677-81.

Leandro-García LJ, Inglada-Pérez L, Pita G, Hjerpe E, Leskelä S, Jara C, Mielgo X, González-Neira A, Robledo M, Avall-Lundqvist E, Gréen H, Rodríguez-Antona C. Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy. J Med Genet. 2013 Jun 17.

Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D; KConFab Investigators, Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M; Ontario Cancer Genetics Network, Hansen Tv, Neuhausen SL, Blanco I, Greene MH, Garber J, Weitzel JN, Andrulis IL, Goldgar DE, D'Andrea E, Caldes T, Nevanlinna H, Osorio A, van Rensburg EJ, Arason A, Rennert G, van den Ouweland AM, van der Hout AH, Kets CM, Aalfs CM, Wijnen JT, Ausems MG; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Jacobs C, Adlard J, Tischkowitz M, Porteous ME, Damiola F; GEMO Study Collaborators, Golmard L, Barjhoux L, Longy M, Belotti M, Ferrer SF, Mazoyer S, Spurdle AB, Manoukian S, Barile M, Genuardi M, Arnold N, Meindl A, Sutter C, Wappenschmidt B, Domchek SM, Pfeiler G, Friedman E, Jensen UB, Robson M, Shah S, Lazaro C, Mai PL, Benitez J, Southey MC, Schmidt MK, Fasching PA, Peto J, Humphreys MK, Wang Q, Michailidou K, Sawyer EJ, Burwinkel B, Guénel P, Bojesen SE, Milne RL, Brenner H, Lochmann M; GENICA Network, Aittomäki K, Dörk T, Margolin S, Mannermaa A, Lambrechts D, Chang-Claude J, Radice P, Giles GG, Haiman CA, Winqvist R, Devillee P, García-Closas M, Schoof N, Hooning MJ, Cox A, Pharoah PD, Jakubowska A, Orr N, González-Neira A, Pita G, Alonso MR, Hall P, Couch FJ, Simard J, Altshuler D, Easton DF, Chenevix-Trench G, Antoniou AC, Offit K. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet. 2013;9(3):e1003173.

French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E, Beesley J, Tyrer J, Maia AT, Beck A, Knoblauch NW, Chen C, Kraft P, Barnes D, González-Neira A, Alonso MR, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Conroy D, Dennis J, Bolla MK, Wang Q, Hopper JL, Southey MC, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Loehberg CR, Ekici AB, Beckmann MW, Peto J, dos Santos Silva I, Johnson N, Aitken Z, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias Perez JI, Benitez J, Anton-Culver H, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Engel C, Brauch H, Hamann U, Justenhoven C; GENICA Network, Aaltonen K, Heikkilä P, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Sueta A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Peeters S, Smeets A, Floris G, Chang-Claude J, Rudolph A, Nickels S, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Sardella D, Couch FJ, Wang X, Pankratz VS, Lee A, Giles GG, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Ng CH, Vithana EN, Kristensen V, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devilee P, Seynaeve C, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Klevebring D, Schoof N, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Balasubramanian SP, Blot W, Signorello LB, Cai Q, Pharoah PD, Healey CS, Shah M, Pooley KA, Kang D, Yoo KY, Noh DY, Hartman M, Miao H, Sng JH, Sim X, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, McKay J, Toland AE, Ambrosone CB, Yannoukakos D, Godwin AK, Shen CY, Hsiung CN, Wu PE, Chen ST, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Ponder BA, Nevanlinna H, Brown MA, Chenevix-Trench G, Easton DF, Dunning AM. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet. 2013 Apr 4;92(4):489-503.

Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK, Brook MN, Orr N, Rhie SK, Riboli E, Feigelson HS, Le Marchand L, Buring JE, Eccles D, Miron P, Fasching PA, Brauch H, Chang-Claude J, Carpenter J, Godwin AK, Nevanlinna H, Giles GG, Cox A, Hopper JL, Bolla MK, Wang Q, Dennis J, Dicks E, Howat WJ, Schoof N, Bojesen SE, Lambrechts D, Broeks A, Andrulis IL, Guénel P, Burwinkel B, Sawyer EJ, Hollestelle A, Fletcher O, Winqvist R, Brenner H, Mannermaa A, Hamann U, Meindl A, Lindblom A, Zheng W, Devillee P, Goldberg MS, Lubinski J, Kristensen V, Swerdlow A, Anton-Culver H, Dörk T, Muir K, Matsuo K, Wu AH, Radice P, Teo SH, Shu XO, Blot W, Kang D, Hartman M, Sangrajrang S, Shen CY, Southey MC, Park DJ, Hammet F, Stone J, Veer LJ, Rutgers EJ, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Peto J, Schrauder MG, Ekici AB, Beckmann MW, Dos Santos Silva I, Johnson N, Warren H, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Truong T, Laurent-Puig P, Kerbrat P, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Perez JI, Menéndez P, Müller H, Arndt V, Stegmaier C, Lichtner P, Lochmann M, Justenhoven C, Ko YD; Gene ENvironmental Interaction and breast CAncer (GENICA) Network, Muranen TA, Aittomäki K, Blomqvist C, Greco D, Heikkinen T, Ito H, Iwata H, Yatabe Y, Antonenkova NN, Margolin S, Kataja V, Kosma VM, Hartikainen JM, Balleine R; kConFab Investigators, Tseng CC, Berg DV, Stram DO, Neven P, Dieudonné AS, Leunen K, Rudolph A, Nickels S, Flesch-Janys D, Peterlongo P, Peissel B, Bernard L, Olson JE, Wang X, Stevens K, Severi G, Baglietto L, McLean C, Coetzee GA, Feng Y, Henderson BE, Schumacher F, Bogdanova NV, Labrèche F, Dumont M, Yip CH, Taib NA, Cheng CY, Shrubsole M, Long J, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Knight JA, Glendon G, Mulligan AM, Tollenaar RA, Seynaeve CM, Kriege M, Hooning MJ, van den Ouweland AM, van Deurzen CH, Lu W, Gao YT, Cai H, Balasubramanian SP, Cross SS, Reed MW, Signorello L, Cai Q, Shah M, Miao H, Chan CW, Chia KS, Jakubowska A, Jaworska K, Durda K, Hsiung CN, Wu PE, Yu JC, Ashworth A, Jones M, Tessier DC, González-Neira A, Pita G, Alonso MR, Vincent D, Bacot F, Ambrosone CB, Bandera EV, John EM, Chen GK, Hu JJ, Rodriguez-Gil JL, Bernstein L, Press MF, Ziegler RG, Millikan RM, Deming-Halverson SL, Nyante S, Ingles SA, Waisfisz Q, Tsimiklis H, Makalic E, Schmidt D, Bui M, Gibson L, Müller-Myhsok B, Schmutzler RK, Hein R, Dahmen N, Beckmann L, Aaltonen K, Czene K, Irwanto A, Liu J, Turnbull C; Familial Breast Cancer Study (FBCS), Rahman N, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F; Australian Breast Cancer Tissue Bank (ABCTB) Investigators, Olswold C, Slager S, Pilarski R, Ademuyiwa F, Konstantopoulou I, Martin NG, Montgomery GW, Slamon DJ, Rauh C, Lux MP, Jud SM, Bruning T, Weaver J, Sharma P, Pathak H, Tapper W, Gerty S, Durcan L, Trichopoulos D, Tumino R, Peeters PH, Kaaks R, Campa D, Canzian F, Weiderpass E, Johansson M, Khaw KT, Travis R, Clavel-Chapelon F, Kolonel LN, Chen C, Beck A, Hankinson SE, Berg CD, Hoover RN, Lissowska J, Figueroa JD, Chasman DI, Gaudet MM, Diver WR, Willett WC, Hunter DJ, Simard J, Benitez J, Dunning AM, Sherman ME, Chenevix-Trench G, Chanock SJ, Hall P, Pharoah PD, Vachon C, Easton DF, Haiman CA, Kraft P. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet. 2013 Apr;45(4):392-8, 398e1-2.

Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz MD, Lu Y, Karevan R, Woods N, Johnston RL, French JD, Chen X, Weischer M, Nielsen SF, Maranian MJ, Ghoussaini M, Ahmed S, Baynes C, Bolla MK, Wang Q, Dennis J, McGuffog L, Barrowdale D, Lee A, Healey S, Lush M, Tessier DC, Vincent D, Bacot F; Australian Cancer Study; Australian Ovarian Cancer Study; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Gene Environment Interaction and Breast Cancer (GENICA); Swedish Breast Cancer Study (SWE-BRCA); Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE); Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO), Vergote I, Lambrechts S, Despierre E, Risch HA, González-Neira A, Rossing MA, Pita G, Doherty JA, Alvarez N, Larson MC, Fridley BL, Schoof N, Chang-Claude J, Cicek MS, Peto J, Kalli KR, Broeks A, Armasu SM, Schmidt MK, Braaf LM, Winterhoff B, Nevanlinna H, Konecny GE, Lambrechts D, Rogmann L, Guénel P, Teoman A, Milne RL, Garcia JJ, Cox A, Shridhar V, Burwinkel B, Marme F, Hein R, Sawyer EJ, Haiman CA, Wang-Gohrke S, Andrulis IL, Moysich KB, Hopper JL, Odunsi K, Lindblom A, Giles GG, Brenner H, Simard J, Lurie G, Fasching PA, Carney ME, Radice P, Wilkens LR, Swerdlow A, Goodman MT, Brauch H, Garcia-Closas M, Hillemanns P, Winqvist R, Dürst M, Devilee P, Runnebaum I, Jakubowska A, Lubinski J, Mannermaa A, Butzow R, Bogdanova NV, Dörk T, Pelttari LM, Zheng W, Leminen A, Anton-Culver H, Bunker CH, Kristensen V, Ness RB, Muir K, Edwards R, Meindl A, Heitz F, Matsuo K, du Bois A, Wu AH, Harter P, Teo SH, Schwaab I, Shu XO, Blot W, Hosono S, Kang D, Nakanishi T, Hartman M, Yatabe Y, Hamann U, Karlan BY, Sangrajrang S, Kjaer SK, Gaborieau V, Jensen A, Eccles D, Høgdall E, Shen CY, Brown J, Woo YL, Shah M, Azmi MA, Luben R, Omar SZ, Czene K, Vierkant RA, Nordestgaard BG, Flyger H, Vachon C, Olson JE, Wang X, Levine DA, Rudolph A, Weber RP, Flesch-Janys D, Iversen E, Nickels S, Schildkraut JM, Silva Idos S, Cramer DW, Gibson L, Terry KL, Fletcher O, Vitonis AF, van der Schoot CE, Poole EM, Hogervorst FB, Tworoger SS, Liu J, Bandera EV, Li J, Olson SH, Humphreys K, Orlow I, Blomqvist C, Rodriguez-Rodriguez L, Aittomäki K, Salvesen HB, Muranen TA, Wik E, Brouwers B, Krakstad C, Wauters E, Halle MK, Wildiers H, Kiemeney LA, Mulot C, Aben KK, Laurent-Puig P, Altena AM, Truong T, Massuger LF, Benitez J, Pejovic T, Perez JI, Hoatlin M, Zamora MP, Cook LS, Balasubramanian SP, Kelemen LE, Schneeweiss A, Le ND, Sohn C, Brooks-Wilson A, Tomlinson I, Kerin MJ, Miller N, Cybulski C, Henderson BE, Menkiszak J, Schumacher F, Wentzensen N, Le Marchand L, Yang HP, Mulligan AM, Glendon G, Engelholm SA, Knight JA, Høgdall CK, Apicella C, Gore M, Tsimiklis H, Song H, Southey MC, Jager A, den Ouweland AM, Brown R, Martens JW, Flanagan JM, Kriege M, Paul J, Margolin S, Siddiqui N, Severi G, Whittemore AS, Baglietto L, McGuire V, Stegmaier C, Sieh W, Müller H, Arndt V, Labrèche F, Gao YT, Goldberg MS, Yang G, Dumont M, McLaughlin JR, Hartmann A, Ekici AB, Beckmann MW, Phelan CM, Lux MP, Permuth-Wey J, Peissel B, Sellers TA, Ficarazzi F, Barile M, Ziogas A, Ashworth A, Gentry-Maharaj A, Jones M, Ramus SJ, Orr N, Menon U, Pearce CL, Brüning T, Pike MC, Ko YD, Lissowska J, Figueroa J, Kupryjanczyk J, Chanock SJ, Dansonka-Mieszkowska A, Jukkola-Vuorinen A, Rzepecka IK, Pylkäs K, Bidzinski M, Kauppila S, Hollestelle A, Seynaeve C, Tollenaar RA, Durda K, Jaworska K, Hartikainen JM, Kosma VM, Kataja V, Antonenkova NN, Long J, Shrubsole M, Deming-Halverson S, Lophatananon A, Siriwanarangsan P, Stewart-Brown S, Ditsch N, Lichtner P, Schmutzler RK, Ito H, Iwata H, Tajima K, Tseng CC, Stram DO, van den Berg D, Yip CH, Ikram MK, Teh YC, Cai H, Lu W, Signorello LB, Cai Q, Noh DY, Yoo KY, Miao H, Iau PT, Teo YY, McKay J, Shapiro C, Ademuyiwa F, Fountzilas G, Hsiung CN, Yu JC, Hou MF, Healey CS, Luccarini C, Peock S, Stoppa-Lyonnet D, Peterlongo P, Rebbeck TR, Piedmonte M, Singer CF, Friedman E, Thomassen M, Offit K, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Garber J, Narod SA, Weitzel JN, Montagna M, Olah E, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Imyanitov EN, Tihomirova L, Arun BK, Campbell I, Mensenkamp AR, van Asperen CJ, van Roozendaal KE, Meijers-Heijboer H, Collée JM, Oosterwijk JC, Hooning MJ, Rookus MA, van der Luijt RB, Os TA, Evans DG, Frost D, Fineberg E, Barwell J, Walker L, Kennedy MJ, Platte R, Davidson R, Ellis SD, Cole T, Bressac-de Paillerets B, Buecher B, Damiola F, Faivre L, Frenay M, Sinilnikova OM, Caron O, Giraud S, Mazoyer S, Bonadona V, Caux-Moncoutier V, Toloczko-Grabarek A, Gronwald J, Byrski T, Spurdle AB, Bonanni B, Zaffaroni D, Giannini G, Bernard L, Dolcetti R, Manoukian S, Arnold N, Engel C, Deissler H, Rhiem K, Niederacher D, Plendl H, Sutter C, Wappenschmidt B, Borg A, Melin B, Rantala J, Soller M, Nathanson KL, Domchek SM, Rodriguez GC, Salani R, Kaulich DG, Tea MK, Paluch SS, Laitman Y, Skytte AB, Kruse TA, Jensen UB, Robson M, Gerdes AM, Ejlertsen B, Foretova L, Savage SA, Lester J, Soucy P, Kuchenbaecker KB, Olswold C, Cunningham JM, Slager S, Pankratz VS, Dicks E, Lakhani SR, Couch FJ, Hall P, Monteiro AN, Gayther SA, Pharoah PD, Reddel RR, Goode EL, Greene MH, Easton DF, Berchuck A, Antoniou AC, Chenevix-Trench G, Dunning AM. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013 Apr;45(4):371-84, 384e1-2.

Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N; Breast and Ovarian Cancer Susceptibility Collaboration, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM; kConFab Investigators; Australian Ovarian Cancer Study Group, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Müller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Brüning T; GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dörk T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J, Easton DF. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013 Apr;45(4):353-61, 361e1-2.

Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One. 2013;8(2):e55681.

Fernandez-Navarro P, Pita G, Santamariña C, Moreno MP, Vidal C, Miranda-García J, Ascunce N, Casanova F, Collado-García F, Herráez B, González-Neira A, Benítez J, Pollán M. Association analysis between breast cancer genetic variants and mammographic density in a large population-based study (Determinants of Density in Mammographies in Spain) identifies susceptibility loci in TOX3 gene. Eur J Cancer. 2013 Jan;49(2):474-81.

González-Neira A. Pharmacogenetics of chemotherapy efficacy in breast cancer. Pharmacogenomics. 2012 Apr;13(6):677-90.

Vachon CM, Scott CG, Fasching PA, Hall P, Tamimi RM, Li J, Stone J, Apicella C, Odefrey F, Gierach GL, Jud SM, Heusinger K, Beckmann MW, Pollan M, Fernández-Navarro P, Gonzalez-Neira A, Benitez J, van Gils CH, Lokate M, Onland-Moret NC, Peeters PH, Brown J, Leyland J, Varghese JS, Easton DF, Thompson DJ, Luben RN, Warren RM, Wareham NJ, Loos RJ, Khaw KT, Ursin G, Lee E, Gayther SA, Ramus SJ, Eeles RA, Leach MO, Kwan-Lim G, Couch FJ, Giles GG, Baglietto L, Krishnan K, Southey MC, Le Marchand L, Kolonel LN, Woolcott C, Maskarinec G, Haiman CA, Walker K, Johnson N, McCormack VA, Biong M, Alnaes GI, Gram IT, Kristensen VN, Børresen-Dale AL, Lindström S, Hankinson SE, Hunter DJ, Andrulis IL, Knight JA, Boyd NF, Figuero JD, Lissowska J, Wesolowska E, Peplonska B, Bukowska A, Reszka E, Liu J, Eriksson L, Czene K, Audley T, Wu AH, Pankratz VS, Hopper JL, dos-Santos-Silva I. Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1156-66.

Postel-Vinay S, Véron AS, Tirode F, Pierron G, Reynaud S, Kovar H, Oberlin O, Lapouble E, Ballet S, Lucchesi C, Kontny U, González-Neira A, Picci P, Alonso J, Patino-Garcia A, de Paillerets BB, Laud K, Dina C, Froguel P, Clavel-Chapelon F, Doz F, Michon J, Chanock SJ, Thomas G, Cox DG, Delattre O. Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. Nat Genet. 2012 Feb 12;44(3):323-7.

Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Driver K, Johnson N, Orr N, dos Santos Silva I, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F; Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON), Hall P, Czene K, Irwanto A, Liu J, Nevanlinna H, Aittomäki K, Blomqvist C, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Chang-Claude J, Hein R, Nickels S, Flesch-Janys D, Tsimiklis H, Makalic E, Schmidt D, Bui M, Hopper JL, Apicella C, Park DJ, Southey M, Hunter DJ, Chanock SJ, Broeks A, Verhoef S, Hogervorst FB, Fasching PA, Lux MP, Beckmann MW, Ekici AB, Sawyer E, Tomlinson I, Kerin M, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Cordina-Duverger E, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Alonso MR, González-Neira A, Benítez J, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Brenner H, Müller H, Arndt V, Stegmaier C; Familial Breast Cancer Study (FBCS), Justenhoven C, Brauch H, Brüning T; Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network, Wang-Gohrke S, Eilber U, Dörk T, Schürmann P, Bremer M, Hillemanns P, Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Bermisheva M, Prokofieva D, Khusnutdinova E, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Manoukian S, Bonanni B, Fortuzzi S, Peterlongo P, Couch FJ, Wang X, Stevens K, Lee A, Giles GG, Baglietto L, Severi G, McLean C, Alnaes GG, Kristensen V, Børrensen-Dale AL, John EM, Miron A, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Glendon G, Mulligan AM, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Figueroa JD, Garcia-Closas M, Brinton L, Lissowska J, Hooning MJ, Hollestelle A, Oldenburg RA, van den Ouweland AM, Cox A, Reed MW, Shah M, Jakubowska A, Lubinski J, Jaworska K, Durda K, Jones M, Schoemaker M, Ashworth A, Swerdlow A, Beesley J, Chen X; kConFab Investigators; Australian Ovarian Cancer Study Group, Muir KR, Lophatananon A, Rattanamongkongul S, Chaiwerawattana A, Kang D, Yoo KY, Noh DY, Shen CY, Yu JC, Wu PE, Hsiung CN, Perkins A, Swann R, Velentzis L, Eccles DM, Tapper WJ, Gerty SM, Graham NJ, Ponder BA, Chenevix-Trench G, Pharoah PD, Lathrop M, Dunning AM, Rahman N, Peto J, Easton DF. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet. 2012 Jan 22;44(3):312-8.

Arroba AI, Revuelta-Cervantes J, Menes L, González-Rodríguez A, Pardo V, de la Villa P, Burks DJ, Valverde AM. Loss of Protein Tyrosine Phosphatase 1B Increases IGF-I Receptor Tyrosine Phosphorylation but Does Not Rescue Retinal Defects in IRS2-Deficient Mice. Invest Ophthalmol Vis Sci. 2013 Jun 19;54(6):4215-25.

Villacampa P, Ribera A, Motas S, Ramírez L, García M, de la Villa P, Haurigot V, Bosch F. Insulin-like Growth Factor I (IGF-I)-induced Chronic Gliosis and Retinal Stress Lead to Neurodegeneration in a Mouse Model of Retinopathy. J Biol Chem. 2013 Jun 14;288(24):17631-42.

Rodríguez-Muela N, Koga H, García-Ledo L, de la Villa P, de la Rosa EJ, Cuervo AM, Boya P. Balance between autophagic pathways preserves retinal homeostasis. Aging Cell. 2013 Jun;12(3):478-88.

Laguna A, Barallobre MJ, Marchena MA, Mateus C, Ramírez E, Martínez-Cue C, Delabar JM, Castelo-Branco M, de la Villa P, Arbonés ML. Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome. Hum Mol Genet. 2013 Jul 15;22(14):2775-2784.

Germain F, Istillarte M, Gómez-Vicente V, Pérez-Rico C, de la Villa P. Electroretinographic and histologic study of mouse retina after optic nerve section: a comparison between wild type and rd1 mice. Clin Experiment Ophthalmol. 2012 Dec 20.

Fernández-Sánchez L, Lax P, Isiegas C, Ayuso E, Ruiz JM, de la Villa P, Bosch F, de la Rosa EJ, Cuenca N. Proinsulin slows retinal degeneration and vision loss in the P23H rat model of retinitis pigmentosa. Hum Gene Ther. 2012 Dec;23(12):1290-300.

López-del Hoyo N, Fazioli L, López-Begines S, Fernández-Sánchez L, Cuenca N, Llorens J, de la Villa P, Méndez A. Overexpression of guanylate cyclase activating protein 2 in rod photoreceptors in vivo leads to morphological changes at the synaptic ribbon. PLoS One. 2012;7(8):e42994.

Santos AM, López-Sánchez N, Martín-Oliva D, de la Villa P, Cuadros MA, Frade JM. Sortilin participates in light-dependent photoreceptor degeneration in vivo. PLoS One. 2012;7(4):e36243.

Garanto A, Vicente-Tejedor J, Riera M, de la Villa P, Gonzàlez-Duarte R, Blanco R, Marfany G. Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer. Biochim Biophys Acta. 2012 Aug;1822(8):1258-69.

Rodriguez-de la Rosa L, Fernandez-Sanchez L, Germain F, Murillo-Cuesta S, Varela-Nieto I, de la Villa P, Cuenca N. Age-related functional and structural retinal modifications in the Igf1-/- null mouse. Neurobiol Dis. 2012 May;46(2):476-85.

Gomez Toledo A, Raducu M, Cruces J, Nilsson J, Halim A, Larson G, Rüetschi U, Grahn A. O-Mannose and O-N-acetyl galactosamine glycosylation of mammalian α-dystroglycan is conserved in a region-specific manner. Glycobiology. 2012 Nov;22(11):1413-23.

Raducu M, Baets J, Fano O, Van Coster R, Cruces J. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. Eur J Hum Genet. 2012 Sep;20(9):945-52.

Tejedor J, Guirao A. Agreement between refractive and corneal astigmatism in pseudophakic eyes. Cornea. 2013 Jun;32(6):783-90

Tejedor J, Díez L. Temporary management of diplopia with botulinum toxin in multiple ocular motor cranial neuropathies. Eur J Ophthalmol. 2012 Sep 26;22(6):1042-1044.

..CONGRESOS

Además de lo anterior, en los últimos dos años (2012-2013) los miembros de este proyecto coordinado han presentado sus trabajos en diversos congresos nacionales e internacionales, entre ellos:

Lluís Montoliu. Albinochip: towards the universal genetic diagnosis of all known mutations associated to albinism. V Annual Meeting CIBERER-ISCIII, Madrid, January 2012

Davide Seruggia, Lluís Montoliu. The nuclear structure of the mouse tyrosinase locus. 17th ESPCR meeting, Geneva, Switzerland, September 2012

Almudena Fernández, Eduardo Moltó, Marta Cantero, Mónica Martínez, Lluís Montoliu. An update on mouse models of albinism and collaborative efforts for the systematic genetic diagnosis of all know forms of albinism. 24th JSPCR meeting, Nagahama, Japan, November 2012

Mónica Martínez, Lluís Montoliu Albinismo: Validación de nuevas estrategias potencialmente terapéuticas en modelos animales. Reunión CIBERER, FJD, Madrid, Noviembre 2012

Martínez García M, Moltó E, Fernández A, Torres M, Sobrino B, Phillips C, Maroñas O, Trujillo M.J, Ayuso C, Carracedo A, Montoliu L. Universal genetic diagnoses of all known mutations associated to albinism. VI Annual Meeting CIBERER-ISCIII, Madrid, February 2013

Mónica Martínez García, Eduardo Moltó, Almudena Fernández, María Torres, Beatriz Sobrino, Chris Phillips, Olalla Maroñas, María José Trujillo, Carmen Ayuso, Ángel Carracedo, Lluís Montoliu. Diagnóstico genético universal de todas las variantes genéticas conocidas de albinismo. XXVII Congreso de la AEGH, Madrid, Abril 2013

Mónica Martínez, Almudena Fernández, Davide Seruggia, Cristina Vicente, Marta Cantero, Lluís Montoliu. Mouse models of albinism and collaborative efforts towards the systematic genetic diagnosis of all known forms of albinism. ASPCR-ASDR meeting, Sydney, Australia, May 2013

Jaime Tejedor, Oliver Puk, Marta Cantero, Joachim Graw, Lluís Montoliu. Susceptibility To Refractive Changes Induced By Form Deprivation In Albino Versus Pigmented Mice. ARVO 2012, Florida, USA, May 2012

J. Martín-Nieto, M. L. Uribe, C. M. Arenas, M. Rubio, M. Aza, J. Cruces and L. Campello. All dystroglycanopathies-causing genes are expressed in the retina of adult mammals. IUBMB-FEBS-SEBBM, September 2012, Sevilla, Spain

M. Raducu, R. Simón, A. Camacho, M. Rubio, M. Aza-Carmona, L. Campello, A. Hernández-Laín, J. M. Nieto and J. Cruces. Atypical case of muscle-eye-brain disease with minimal myopathological changes: clinical features and molecular characterization. IUBMB-FEBS-SEBBM, September 2012, Sevilla, Spain

Campello L., Prados B., Fernández-Sánchez L., Raducu M., Cuenca N., Cruces J. & Martín- Nieto J.POMT1 and POMT2 are located in the nucleus of 661W photoreceptors and interact with the transcription factor p38IP/FAM48A. IUBMB-FEBS-SEBBM, September 2012, Sevilla, Spain

Lluis Montoliu. EMMA: The European Mouse Mutant Archive. IUBMB-FEBS-SEBBM, September 2012, Sevilla, Spain

Laura Garcia-Garcia, Patricia Fernandez-Robredo, Sergio Recalde, Maite Moreno-Orduña, Vanessa Fernandez-Garcia, Josemaria Caire, Miguel A. Marchena-Fernandez, Pedro de la Villa, Alfredo Garcia-Layana. Effects Of The Absence Of both Complement Factor H And Apolipoprotein E On Retinal Morphology In Mice. ARVO 2012, Florida, USA, May 2012
última actualización: 15 de enero de 2014

webmaster: Lluís Montoliu (CNB-CSIC)