Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Autor: Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, Pietro, Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, Marcella, Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S.

Publikováno v: Brain : a journal of neurology, vol 145, iss 9
BRAIN

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3083a328f38c58a75d1e27b4ff06949
https://escholarship.org/uc/item/6xw4z6x0

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Orientations du pelvis et de la pièce acétabulaire des prothèses totales de hanche en positions assise et debout : reproductibilité des mesures suivant le système radiographique utilisé, EOS ou conventionnel

Autor: Lazennec, J.-Y., Rousseau, M.-A., Rangel, A., Gorin, M., Belicourt, C., Brusson, A., Catonné, Y.

Publikováno v: In Revue de Chirurgie Orthopedique et Traumatologique 2011 97(4):375-383

Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1)

Autor: F. Yesim Demirci, Chang, M. -H, Mah, T. S., Romero, M. F., Gorin, M. B.

Publikováno v: Scopus-Elsevier
Gorin, MB; Demirci, FY; Chang, MH; Mah, TS; & Romero, MF. (2017). Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). UCLA: Retrieved from: http://www.escholarship.org/uc/item/6h40r3dd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d67c17e5fc910b12eb9bbc92de512b7e
https://escholarship.org/uc/item/6h40r3dd

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.