Results 101 to 110 of about 7,462 (203)

Lissencephaly-1 promotes the recruitment of dynein and dynactin to transported mRNAs [PDF]

, 2013
Microtubule-based transport mediates the sorting and dispersal of many cellular components and pathogens. However, the mechanisms by which motor complexes are recruited to and regulated on different cargos remain poorly understood.
Beat Suter, Dzhindzhev, NS, Suter, Beat, Elaine Stephens, Nikola S. Dzhindzhev, Simon L. Bullock, Soundararajan, HC, Ohkura, H, Carly I. Dix, Dix, Carly I, Bullock, SL, Harish Chandra Soundararajan, Farida Begum, Hiroyuki Ohkura, Stephens, E, Begum, F   +15 more
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Recurrent KIF2A mutations are responsible for classic lissencephaly

, 2017
International audienceKinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development.
Morjani, A. el, Coubes, Christine, Drouin-Garaud, Valérie, Moutton, S., Maillard, C., Bole-Feysot, Christine, Bijlsma, E.K., Guerrot, Anne-Marie, Cavallin, M., Peeters, E.A.J., Bijlsma, Emilia, Fourrage, C., Moutton, Sébastien, Steffann, Julie, Guerrot, A.M., Peeters, Els, Geneviève, David, Genevieve, D., Fourrage, Cécile, Pedespan, J.M., Bahi-Buisson, N., Maillard, Camille, Coubes, C., Steffann, J., Bole-Feysot, C., El Morjani, Adrienne, Bahi-Buisson, Nadia, Drouin-Garaud, V., Cavallin, Mara, Pedespan, Jean Michel   +29 more
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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

, 2008
Mutations in the α-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a specific combination of features.
Martin, P., van der Knaap, M.S., Lachmeijer, A.M.A., Lachmeijer, AMA, Omran, H, Martins, M., Zeschnigk, C., Kuechler, A., Schuierer, G, Haug, V., Morris-Rosendahl, D. J., Uyanik, G., Omran, H., Zeschnigk, C, Kutsche, K, Kraus, U., van der Knaap, M. S., Morris‐Rosendahl, DJ, Morris-Rosendahl, D.J., Najm, J., Kraus, U, Kuechler, A, Santos, M., Schuierer, G., Van der Knaap, MS, Sztriha, L., Martins, M, Vasconcelos, C, Kutsche, K., Haug, V, Uyanik, G, Lachmeijer, A. M. A., Santos, M, Vasconcelos, C., Najm, J, Sztriha, L, Martin, P   +36 more
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Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of ...
Mane, Shrikant, Kaymakcalan, Hande, Narayanan, Anand, Sestan, Nenad, Koroglu, Merve Nur, Ercan-Sencicek, A. Gulhan, Caglar, Caner, Wang, Guilin, Takeo, Yutaka, Lopez-Giraldez, Francesc, Cortes, Joelly, Bulut, Aybike S., Yalcinkaya, Cengiz, Nishimura, Sayoko, Barak, Tanyeri, Yasuno, Katsuhito, Liang, Dan, Tuysuz, Beyhan, Lam, TuKiet T., Guzel, Aslan, Miyagishima, Danielle F., Henegariu, Octavian, Wang, Xinyuan, Mishra-Gorur, Ketu, Erson-Omay, E. Zeynep, Peksen, A. Buket, Louvi, Angeliki, Bilguvar, Kaya, Zhang, Ce, Caglayan, AHMET OKAY, Gunel, Murat, Cheng, Iris Q.   +31 more
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LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity

, 2009
International audienceObjective: With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion, described so far, we aimed to refine ...
Des Portes, Vincent, Pitelet, Gaëlle, Barthez, Marie Anne, Quelin, Chloe, Saillour, Yoann, Mercier, Sandra, Joriot, Sylvie, Carion, Nathalie, Philip, Nicole, Cances, Claude, Broglin, Dominique, Moutard, Marie Laure, Kaminska, Anna, Toutain, Annick, Elie, Caroline, Chelly, Jamel, Beldjord, Chérif, ROUBERTIE, Agathe, Pinard, Jean-Marc, Bahi-Buisson, Nadia, Milh, Mathieu, Cancès, Clément, Leger, Pierre-Louis, Boddaert, Nathalie   +23 more
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ARX mutations in X-linked lissencephaly with abnormal genitalia

, 2003
X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with absent corpus callosum. Recently, forms of syndromic and nonspecific X-linked mental retardation have been found to be associated with mutations in ...
Aigner, L., Martin, P., Uyanik, G., Winkler, J., Neumann, D., Marschner-Schäfer, H., Groβ, C., Hehr, U.   +7 more
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In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations

, 2018
Background Lissencephaly, or smooth brain, is a severe congenital brain malformation that is thought to be associated with impaired neuronal migration during corticogenesis.
Shofuda, Tomoko, Takanashi, Jun-ichi, Kato, Mitsuhiro, Utsunomiya, Hidetsuna, Kanemura, Yonehiro, Yamasaki, Mami, Pooh, Ritsuko K, Akamatsu, Wado, Bamba, Yohei, Suemizu, Hiroshi, Sumida, Miho, Kanematsu, Daisuke, Gallagher, Denis, Tateishi, Yoko, Miller, Freda D, Higuchi, Yuichiro, Okano, Hideyuki   +16 more
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Classical Lissencephaly associated with dolichocephaly, hair and nail defect.

, 2006
We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects.
ROTMENSCH S., ZANNOLLI R., SWIFT JA, LIBERATI, Marco, SABATINO, Giuseppe, PALLOTTA, Rosanna, CELENTANO C., DOMIZIO S., COLOSIMO, Cesare, SAPONARI, ANITA, BUONI S.   +10 more
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SEVERE SEMILOBAR HOLOPROSENCEPHALY AND LISSENCEPHALY ASSOCIATED WITH CEBOCEPHALY IN A NEWBORN

, 2012
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn: Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly.
Yurttutan, N., Oguz, S. S., Yurttutan, S., Dilmen, U., Canpolat, F. E., Oncel, M. Y., Ozdemir, R., Erdeve, O.   +7 more
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Diagnostic features and clinical signs of 21 patients with lissencephaly type 1

, 1990
Lissencephaly type I has been described as either the cerebral expression of a complex malformation syndrome such as Miller-Dieker syndrome (MDS), or as isolated lissencephaly sequence (ILS). In a nation-wide study in The Netherlands, of 21 patients with
Barth, P. G., de Rijk-van Andel, J. F., Arts, W. F., Loonen, M. C.   +3 more
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