Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

Autor: Panagiotou, ES, Fernandez-Fuentes, N, Farraj, LA, McKibbin, M, Elcioglu, NH, Jafri, H, Cerman, E, Parry, DA, Logan, CV, Johnson, CA, Inglehearn, CF, Toomes, C, Ali, M

Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::3c7fbbb744aa1a97dfa0a70f66a12980

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

Autor: Parry, DA, Smith, CEL, El-Sayed, W, Poulter, JA, Shore, RC, Logan, CV, Mogi, C, Sato, K, Okajima, F, Harada, A, Zhang, H, Koruyucu, M, Seymen, F, Hu, JC-C, Simmer, JP, Ahmed, M, Jafri, H, Johnson, CA, Inglehearn, CF, Mighell, AJ

Publikováno v: Parry, D A, Smith, C E L, El-Sayed, W, Poulter, J A, Shore, R C, Logan, C V, Mogi, C, Sato, K, Okajima, F, Harada, A, Zhang, H, Koruyucu, M, Seymen, F, Hu, J C-C, Simmer, J P, Ahmed, M, Jafri, H, Johnson, C A, Inglehearn, C F & Mighell, A J 2016, ' Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ', American Journal of Human Genetics, vol. 99, no. 4, pp. 984-990 . https://doi.org/10.1016/j.ajhg.2016.08.020

Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the intricate regulation of ion transport and controlled changes to the pH of the developing enamel matri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::adc8343f828fbc5ebf845470566a9009
https://hdl.handle.net/20.500.11820/d45220f8-94f1-467a-8a12-3e80e92b6297

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Autor: Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA, Sorusch, N, Abdelhamed, ZA, Natarajan, S, Herridge, W, van Reeuwijk, J, Horn, N, Boldt, K, Parry, DA, Letteboer, SJ, Roosing, S, Adams, M, Bell, SM, Bond, J, Higgins, J, Morrison, EE, Tomlinson, DC, Slaats, GG, van Dam, TJ, Huang, L, Kessler, K, Giessl, A, Logan, CV, Boyle, EA, Shendure, J, Anazi, S, Aldahmesh, M, Al Hazzaa, S, Hegele, RA, Ober, C, Frosk, P, Mhanni, AA, Chodirker, BN, Chudley, AE, Lamont, R, Bernier, FP, Beaulieu, CL, Gordon, P, Pon, RT, Donahue, C, Barkovich, AJ, Wolf, L, Toomes, C, Thiel, CT, Boycott, KM, McKibbin, M, Inglehearn, CF, UK10K Consortium, University ofWashington Center forMendelian Genomics, Stewart, F, Omran, H, Huynen, MA, Sergouniotis, PI, Alkuraya, FS, Parboosingh, JS, Innes, AM, Willoughby, CE, Giles, RH, Webster, AR, Ueffing, M, Blacque, O, Gleeson, JG, Wolfrum, U, Beales, PL, Gibson, T, Doherty, D, Mitchison, HM, Roepman, R, Johnson, CA

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a globa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::98293f0999c69ed9d20eac332c60a6ef

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Autor: Mirzaa, GM, Parry, DA, Fry, AE, Giamanco, KA, Schwartzentruber, J, Vanstone, M, Logan, CV, Roberts, N, Johnson, CA, Singh, S, Kholmanskikh, SS, Adams, C, Hodge, RD, Hevner, RF, Bonthron, DT, Braun, KPJ, Faivre, L, Rivière, J-B, St-Onge, J, Gripp, KW, Mancini, GMS, Pang, K, Sweeney, E, Van Esch, H, Verbeek, N, Wieczorek, D, Steinraths, M, Majewski, J, FORGE Canada Consortium, Boycott, KM, Pilz, DT, Ross, ME, Dobyns, WB, Sheridan, EG

Publikováno v: Nature genetics, vol 46, iss 5

Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387). Here we report that individuals with MPPH lacking upstream

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c4d69dc7871230267b3af5c54473d75d
https://escholarship.org/uc/item/6p05f4xp

Alpha-helical coiled-coil oligomerization domains are almost ubiquitous in the collagen superfamily

Autor: Mcalinden, A., Smith, Ta, Sandell, Lj, Ficheux, D., Parry, Da, Hulmes, Dj

Alpha-helical coiled-coils are widely occurring protein oligomerization motifs. Here we show that most members of the collagen superfamily contain short, repeating heptad sequences typical of coiled coils. Such sequences are found at the N-terminal e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______166::2f002ceecad4947036d1e4fc984a1024
https://hal.archives-ouvertes.fr/hal-00313821