Genetic modifiers in mice: the example of the fragile X mouse model

Autor: R F Kooy, V Errijgers

Publikováno v: Cytogenetic and genome research

Modifiers play an important role in most, if not all human diseases, and mouse models. For some disease models, such as the cystic fibrosis knockout mouse model, the effect of genetic factors other than the causative mutation has been well establishe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab47b27ce2856bd6b54d812d140be1f8
https://doi.org/10.1159/000078218

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

Autor: C, Helsmoortel, G, Vandeweyer, P, Ordoukhanian, F, Van Nieuwerburgh, N, Van der Aa, R F, Kooy

Publikováno v: Clinical genetics. 88(2)

Intellectual disability (ID), characterized by an intellectual performance of at least 2 SD (standard deviations) below average is a frequent, lifelong disorder with a prevalence of 2-3%. Today, only for at most half of patients a diagnosis is made.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::75bd59133f22ed2f6695d3163f3ec043
https://pubmed.ncbi.nlm.nih.gov/25081361

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Autor: Peter Vollenweider, Leena Peltonen, Audrey Labalme, Jessica L. Buxton, Alessandra Ferrarini, Dawn M. Waterworth, Sven Bergmann, Gérard Waeber, Marie Pigeyre, Sébastien Jacquemont, Vincent Mooser, Audrey Guilmatre, C. Lecoeur, Muriel Holder-Espinasse, Bettina Blaumeiser, Elena G. Bochukova, Ni Huang, Andrew Walley, Danielle Martinet, Peter Jacobson, B. Leheup, Marie-Pierre Lemaitre, A. Brioschi, Julia M. Keogh, Damien Sanlaville, Stephen O'Rahilly, Robert Sladek, Bruno Delobel, Fanny Stutzmann, Sophie Dupuis-Girod, Philippe Froguel, Muriel Gaillard, Anne Philippe, Katrin Männik, Jean-Marie Cuisset, M. Béri-Dexheimer, Lachlan J. M. Coin, Fei Chen, François Pattou, Katrin Õunap, Mari Nelis, A.-L. Hartikainen, Jean-Claude Chèvre, Philippe Jonveaux, Alice Goldenberg, Kay D. MacDermot, Elana Henning, Odile Boute, Sonia Bouquillon, Armand Valsesia, Valérie Malan, Stéphane Lobbens, R. F. Kooy, Alexandra I. F. Blakemore, Marie-Pierre Cordier, Lena M. S. Carlsson, Marjo-Riitta Järvelin, Lars Sjöström, Paul Elliott, C Le Caignec, Florence Fellmann, Nadège Calmels, Dominique Campion, M. M. van Haelst, Vincent Vatin, B. Balkau, Jacques S. Beckmann, Mark I. McCarthy, Robert Caiazzo, Jean-Louis Mandel, Joris Andrieux, Nouchine Hadjikhani, Catherine Vincent-Delorme, David Meyre, Ants Kurg, J. S. El-Sayed Moustafa, Johanna C. Andersson, Jean Chiesa, Michèle Mathieu-Dramard, R. Touraine, Tõnu Esko, Albert David, Alexandre Reymond, Priit Palta, Ghislaine Plessis, Andres Metspalu, Robin G. Walters, Vittorio Giusti, Richard J. Ellis, Bertrand Isidor, Anne-Emmanuelle Ambresin, A J de Smith, I. S. Farooqi, Matthew E. Hurles, Mario Falchi

Publikováno v: Nature, 463(7281), 671-5. Nature Publishing Group
Nature
Nature, vol. 463, no. 7281, pp. 671-675
Nature; Vol 463
Walters, R G, Jacquemont, S, Valsesia, A, de Smith, A J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J S, Chèvre, J-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J L, Boute, O, Holder-Espinasse, M, Cuisset, J-M, Lemaitre, M-P, Ambresin, A-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J-L, Le Caignec, C, David, A, Isidor, B, Cordier, M-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Ounap, K, Bochukova, E G, Henning, E, Keogh, J, Ellis, R J, Macdermot, K D, van Haelst, M M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A-L, McCarthy, M I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M E, O'Rahilly, S, Farooqi, I S, Männik, K, Jarvelin, M-R, Pattou, F, Meyre, D, Walley, A J, Coin, L J M, Blakemore, A I F, Froguel, P & Beckmann, J S 2010, ' A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 ', Nature, vol. 463, no. 7281, pp. 671-5 . https://doi.org/10.1038/nature08727
Nature, 463(7281), 671-U104. Nature Publishing Group

Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35a49847e321d4ca01f15aef737ad7d
http://ora.ox.ac.uk/objects/uuid:f0001a16-0ea7-4f93-a4a3-7fe79cafe6ed

FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis

Autor: P.P. De Deyn, R D'Hooge, A. W. Grossman, D Van Dam, R F Kooy, C J Van Ginneken, Vanessa Errijgers, I Gantois

Publikováno v: Genes, brain and behavior

Mice of the FVB/N strain are severely visual impaired as a result of tyrosinase gene defects, leading to a deficiency of the key enzyme for melanin synthesis in skin and eye and of cyclic guanosine monophosphate phosphodiesterase gene defects, which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fdda08ed79b13aa09d16436c60597d3
https://pubmed.ncbi.nlm.nih.gov/17083330

Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13

Autor: Ay Vanderveen, E Verlind, Hans Scheffer, R. F. Kooy, Rhj Houwen, Chcm Buys

Publikováno v: HUMAN GENETICS, 91(5), 504-506. SPRINGER

D13S31 is the marker closest to the Wilson disease locus according to genetic analysis. Its physical localisation was refined by fluorescent in situ hybridisation to the junction to chromosomal bands 13q14.3 and 13q21.1. Using polymerase chain reacti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15d54ce9508f84b3ca3bd645894b3080
https://research.rug.nl/en/publications/0218e7a3-bf23-4118-b4eb-e46b508b99ca