Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Wodak SS"'
Autor:
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E
Publikováno v:
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::53ec33ac54d071356dd8067ec74a6bfe
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3558
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3558
Autor:
Katagiri, Satoshi, Hosono, Katsuhiro, Hayashi, Takaaki, Murai, Noriyuki, Wake, Eiichi, Miyata, Ichiro, Mizobuchi, Kei, Kurata, Kentaro, Matsuura, Tomokazu, Nakano, Tadashi, Hotta, Yoshihiro
Publikováno v:
Documenta Ophthalmologica; Aug2020, Vol. 141 Issue 1, p77-88, 12p
Autor:
Putoux, Audrey1, Attie-Bitach, Tania, Martinovic, Jéléna2, Gubler, Marie-Claire marie-claire.gubler@inserm.fr
Publikováno v:
Pediatric Nephrology. Jan2012, Vol. 27 Issue 1, p7-15. 9p. 2 Color Photographs, 2 Charts.
Publikováno v:
Acta Endocrinologica (1841-0987). Oct-Dec2011, Vol. 7 Issue 4, p565-574. 10p.
Autor:
Focșa, Ina Ofelia1 (AUTHOR), Budișteanu, Magdalena2,3,4 (AUTHOR), Burloiu, Carmen2 (AUTHOR), Khan, Sheraz5,6 (AUTHOR), Sadeghpour, Azita7,8 (AUTHOR), Bohîlțea, Laurențiu C.1 (AUTHOR), Davis, Erica E.6,9 (AUTHOR) eridavis@luriechildrens.org, Bălgrădean, Mihaela10,11 (AUTHOR)
Publikováno v:
Biomedical Reports. Dec2021, Vol. 15 Issue 6, pN.PAG-N.PAG. 1p.
Autor:
Castro-Sánchez, Sheila, Álvarez-Satta, María, Cortón, Marta, Guillén, Encarna, Ayuso, Carmen, Valverde, Diana
Publikováno v:
Journal of Medical Genetics; Aug2015, Vol. 52 Issue 8, p503-513, 11p
Autor:
Schäffer, Alejandro A
Publikováno v:
Journal of Medical Genetics; Oct2013, Vol. 50 Issue 10, p641-652, 12p
Autor:
Janssen, Sabine, Ramaswami, Gokul, Davis, Erica E., Hurd, Toby, Airik, Rannar, Kasanuki, Jennifer M., Van Der Kraak, Lauren, Allen, Susan J., Beales, Philip L., Katsanis, Nicholas, Otto, Edgar A., Hildebrandt, Friedhelm
Publikováno v:
Human Genetics; Jan2011, Vol. 129 Issue 1, p79-90, 12p, 2 Charts, 1 Graph
This Brief provides a concise review of chaperonopathies, i.e., diseases in which molecular chaperones play an etiologic-pathogenic role. Introductory chapters deal with the chaperoning system and chaperoning teams and networks, HSP-chaperone subpopu
Autor:
Kerry L. Tucker, Tamara Caspary
Cilia are tiny microtubule-based organelles projecting from the plasma membrane of practically all cells in the body. In the past 10 years a flurry of research has indicated a crucial role of this long-neglected organelle in the development and funct