A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

Autor: Philippe Froguel, F. De Graeve, Dorothée Thuillier, J.-P. Delplanque, John W.M. Creemers, Olivier Sand, Pieter Stijnen, Amélie Bonnefond, J. Philippe, G. Gyapay, David Meyre

Publikováno v: International Journal of Obesity. 39:295-302

Background:A significant proportion of severe familial forms of obesity remain genetically elusive. Taking advantage of our unique cohort of multi-generation obese families, we aimed to assess the contribution of rare mutations in 29 common obesity-a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ece752fc06f3ee8f377406e1283e82d8
https://doi.org/10.1038/ijo.2014.96

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

Autor: C. Ben Hamida, N. Doerflinger, S. Belal, C. Linder, L. Reutenauer, C. Dib, G. Gyapay, A. Vignal, D. Le Paslier, D. Cohen, M. Pandolfo, V. Mokini, G. Novelli, F. Hentati, M. Ben Hamida, J.-L. Mandel, M. Kœnig

Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 1993, 5 (2), pp.195-200. ⟨10.1038/ng1093-195⟩

Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, representing to our knowledge the firs

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce001e587f53b9270450719fa1ee5256
https://doi.org/10.1038/ng1093-195

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex

Autor: J.L. Haines, M. Ter-Minassian, A. Bazyk, J.F. Gusella, D.J. Kim, H. Terwedow, M.A. PericakVance, J.B. Rimmler, C.S. Haynes, A.D. Roses, A. Lee, B. Shaner, M. Menold, E. Seboun, R-P. Fitoussi, C. Gartioux, C. Reyes, F. Ribierre, G. Gyapay, J. Weissenbach, S.L. Hauser, D.E. Goodkin, R. Lincoln, K. Usuku, A. Garcia-Merino, N. Gatto, S. Young, J.R. Oksenberg

Publikováno v: Nature Genetics. 13:469-471

Multiple sclerosis (MS), an inflammatory autoimmune demyelinating disorder of the central nervous system, is the most common cause of acquired neurological dysfunction arising in the second to fourth decades of life1,2. A genetic component to MS is i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ed77f23202aba9f84dbc3fb077075c3
https://doi.org/10.1038/ng0896-469

Genetic studies of neuropeptide Y and neuropeptide Y receptors Y1 and Y5 regions in morbid obesity

Autor: Christian Dina, J. Hager, G. Gyapay, Philippe Boutin, B. Guy-Grand, Karine Clément, C. Roche, Philippe Froguel, Arnaud Basdevant

Publikováno v: Diabetologia. 40(6)

Synthesis and release of neuropeptide Y (NPY) are both regulated by leptin binding to its hypothalamic receptor mediating some of the effects of leptin on food intake. Moreover, NPY administration is a powerful stimulant of feeding behaviour. Thus, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9e561e705c9bdfeeebd0b69e04e0c1
https://pubmed.ncbi.nlm.nih.gov/9222646

A gene map of the human genome

Autor: G D, Schuler, M S, Boguski, E A, Stewart, L D, Stein, G, Gyapay, K, Rice, R E, White, P, Rodriguez-Tomé, A, Aggarwal, E, Bajorek, S, Bentolila, B B, Birren, A, Butler, A B, Castle, N, Chiannilkulchai, A, Chu, C, Clee, S, Cowles, P J, Day, T, Dibling, N, Drouot, I, Dunham, S, Duprat, C, East, C, Edwards, J B, Fan, N, Fang, C, Fizames, C, Garrett, L, Green, D, Hadley, M, Harris, P, Harrison, S, Brady, A, Hicks, E, Holloway, L, Hui, S, Hussain, C, Louis-Dit-Sully, J, Ma, A, MacGilvery, C, Mader, A, Maratukulam, T C, Matise, K B, McKusick, J, Morissette, A, Mungall, D, Muselet, H C, Nusbaum, D C, Page, A, Peck, S, Perkins, M, Piercy, F, Qin, J, Quackenbush, S, Ranby, T, Reif, S, Rozen, C, Sanders, X, She, J, Silva, D K, Slonim, C, Soderlund, W L, Sun, P, Tabar, T, Thangarajah, N, Vega-Czarny, D, Vollrath, S, Voyticky, T, Wilmer, X, Wu, M D, Adams, C, Auffray, N A, Walter, R, Brandon, A, Dehejia, P N, Goodfellow, R, Houlgatte, J R, Hudson, S E, Ide, K R, Iorio, W Y, Lee, N, Seki, T, Nagase, K, Ishikawa, N, Nomura, C, Phillips, M H, Polymeropoulos, M, Sandusky, K, Schmitt, R, Berry, K, Swanson, R, Torres, J C, Venter, J M, Sikela, J S, Beckmann, J, Weissenbach, R M, Myers, D R, Cox, M R, James, D, Bentley, P, Deloukas, E S, Lander, T J, Hudson

Publikováno v: Science (New York, N.Y.). 274(5287)

The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::86006a497bcd8cfe5fdda4c13cefc401
https://pubmed.ncbi.nlm.nih.gov/8849440