Results 41 to 50 of about 11,896 (240)

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? [PDF]

, 2016
LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular ...
A Brancaccio, A von Renesse, A Yoshida, AK Marrone, AM Beedle, AS Pawlisz, Atsushi Asakura, B Constantin, C Whitmore, CJ Moore, D Beltran-Valero de Bernabe, D. J. Wells, DE Michele, DJ Lefeber, E. Lacey, EL McDearmon, F Saito, H. Booler, J Liu, J van Reeuwijk, J. C. W. Hildyard, JM Ervasti, JS Satz, K Kobayashi, K Koehler, KG Meilleur, KJ Carss, KM Wright, LT Guo, M Bozzi, M Brockington, M Kanagawa, M Ogawa, M. Hopkinson, MD Henry, MD Henry, MM Goddeeris, MR Ackroyd, MR Ackroyd, MT Garcia-Silva, O Ibraghimov-Beskrovnaya, O Thompson, P Zhang, PJ Holzfeind, PK Grewal, R Barone, R Barresi, R Shaheen, S Sugita, S Vuillaumier-Barrot, S. C. Brown, T Roscioli, T Toda, T Willer, Y Omori   +54 more
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Polymicrogyria: pathology, fetal origins and mechanisms [PDF]

, 2014
Polymicrogyria (PMG) is a complex cortical malformation which has so far defied any mechanistic or genetic explanation. Adopting a broad definition of an abnormally folded or festooned cerebral cortical neuronal ribbon, this review addresses the ...
Anna Jansen, Waney Squier
core   +1 more source

Structures of human dynein in complex with the lissencephaly 1 protein, LIS1

eLife, 2023
The lissencephaly 1 protein, LIS1, is mutated in type-1 lissencephaly and is a key regulator of cytoplasmic dynein-1. At a molecular level, current models propose that LIS1 activates dynein by relieving its autoinhibited form.
Janice M Reimer, Morgan E DeSantis, Samara L Reck-Peterson, Andres E Leschziner   +3 more
doaj   +1 more source

Studies of Recombinant TWA1 Reveal Constitutive Dimerization [PDF]

, 2017
The mammalian muskelin/RanBP9/C-terminal to LisH (CTLH) complex and the Saccharomyces cerevisiae glucose-induced degradation (GID) complex are large, multi-protein complexes that each contain a RING E3 ubiquitin ligase.
Adams, Jo, Baker, Genevieve, Francis, Ore, Race, Paul   +3 more
core   +3 more sources

Baraitser-Winter cerebrofrontofacial syndrome [PDF]

, 2016
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems.
Baraitser, Belyantseva, Bergeron, Bunnell, Bunnell, Cheever, Der Kaloustian, Di Donato, Di Donato, Drummond, Dugina, Dugina, Fletcher, Forbes, Fryns, Gearing, Ghosh, Gomez, Guion-Almeida, Hundt, Johnston, Karakozova, Koçak Eker, Lohr, Perrin, Perrin, Poirier, Ramer, Rendtorff, Retterer, Rivière, Rossi, Skalicky, Sonnemann, Stern, Verloes, Wijk, Winter, Yamazaki, Zhang   +39 more
core   +2 more sources

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias

Frontiers in Neuroscience, 2015
Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere
Mitsuhiro eKato, Mitsuhiro eKato
doaj   +1 more source

Construction of 3D in vitro models by bioprinting human pluripotent stem cells: Challenges and opportunities [PDF]

, 2019
Three-dimensional (3D) printing of biological material, or 3D bioprinting, is a rapidly expanding field with interesting applications in tissue engineering and regenerative medicine. Bioprinters use cells and biocompatible materials as an ink (bioink) to
Rosa, Alessandro, Salaris, Federico
core   +1 more source

Lissencephaly and cerebellar hypoplasia in a goat

Ciência Rural, 2013
A case of lissencephaly and cerebellar hypoplasia was observed in a 30-day-old goat. The goat presented with sternal recumbence, absence of a menace response, intention tremors, ataxia, and nystagmus.
José Rômulo Soares dos Santos, Antônio Flavio Medeiros Dantas, Clarice Ricardo Macedo Pessoa, Tatiane Rodrigues Silva, Sara Vilar Dantas Simões, Franklin Riet Correa, Daniel Pedrosa   +6 more
doaj   +1 more source

Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome

Journal of Family Medicine and Primary Care, 2020
X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature.
Anjali Verma, Rashika Jain, Neha Babbar, Sudeep Kumar   +3 more
doaj   +1 more source

Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders [PDF]

, 2013
Prova tipográfica (uncorrected proof)Neurodevelopmental disorders such as epilepsy, intellectual disability (ID), and autism spectrum disorders (ASDs) occur in over 2 % of the population, as the result of genetic mutations, environmental factors, or ...
A Briancon-Marjollet, A Chauhan, A Gloria-Soria, A Kuhara, A Mohri, A Okazaki, A Rosenthal, A Teixeira-Castro, A Thorsell, A Ward, AA Beg, AB Vashlishan, AC Hart, AG Fraser, AG Wright, AJ Rodrigues, AJ Rodrigues, AK Fu, AM Bender, AM Koivisto, AM Leifer, Ana João Rodrigues, AY Hung, B Calamini, B Hsiao, BA Bamber, BA Bamber, BC Kraemer, BC Kraemer, BC Kraemer, C Aydin, C Caceres Ide, C Cardoso, C Fatouros, C Jee, C Joly, C Lenski, C Rogers, C Sala, C Sala, C Stigloher, Carlos Bessa, CD Beck, CD Link, CH Rankin, CI Bargmann, CJ Epstein, CJ Locke, CJ Locke, CL Gatto, CR Guthrie, D Castermans, D Kleine-Kohlbrecher, D Lee, D Lee, D Levitan, D Sato, D Sieburth, D Weinshenker, DC Soares, DD Shaye, DF Cully, DH Hall, DJ Clancy, DJ Picketts, DL Chase, DT Pilz, E Fransen, E Kabashi, E Yeh, EZ Macosko, F Calahorro, F Calahorro, F Guedj, F Laumonnier, F Laumonnier, F Piano, F Simmer, F Simmer, F Zhang, FF Hamdan, FS Alkuraya, G Esposito, G Jansen, G Kerjan, G Voer de, GE Morrison, GG Farias, GP Demyanenko, GP Demyanenko, GP Demyanenko, H Asada, H Khosravani, H Lubs, H Saitsu, H Sasakura, H Zhao, HG Kim, HK Shamloula, I Helbig, I Mori, I Topalidou, J Apfeld, J Bond, J Falk, J Higgins, J Ortiz-Abalia, J Park, J Pevsner, J Qiu, J Yan, JA Dent, JA Kearney, JA Zallen, JB Ackman, JB Palcoux, JE Chubb, JE Lee, JE Mellem, JE Richmond, JF Liewald, JG Culotti, JG White, JI Lee, JJ Fuentes, JK Rose, JK Rose, JL Noebels, JL Noebels, JM Bellanger, JM Kramer, JM McEwen, JM Wheeler, JN Pulvers, JN Stirman, JR Arron, JS Dittman, JW Hunter, JY Wen, K Evason, K Evason, K Gengyo-Ando, K Kitamura, K Nehrke, K Poirier, K Rijkers, K Schuske, K Sossey-Alaoui, K Volders, KD Kernohan, KD Kimura, L Avery, L Haklai-Topper, L Medrihan, L Timmons, LA Brown, LM Dibbens, M Artal-Sanz, M Ballivet, M Bono de, M Chalfie, M Chalfie, M Dierssen, M Galli, M Guipponi, M Hammarlund, M Holzenberger, M Jensen, M Jouet, M Katidou, M Marvanova, M Rachidi, M Rachidi, M Tatar, M Tucker, M Verhage, M Voet van der, M Zhen, MB Goodman, MD Bono, MH Willemsen, MK Monteilh-Zoller, ML Nonet, ML Nonet, MM Barr, MM Francis, MM Francis, MN Wu, N Souza de, N Tavernarakis, N Wittenburg, NP Mongan, O Hobert, OK Steinlein, OK Steinlein, P Cossette, P Gonczy, P Igarashi, P Strippoli, P Stromme, PA Filipek, Patrícia Maciel, PJ Brockie, PJ Brockie, PW Faber, Q Liu, Q Wu, R Baran, R Baumeister, R Gibbons, R Kerr, R Nass, R O'Hagan, R Pandey, R Pocock, RA Kumar, RB Forthun, RD Groth, RJ Gibbons, RK Choy, RK Choy, RK Hukema, RM Weimer, RY Lee, S Cao, S Hamamichi, S Harbinder, S Hirose, S Jamain, S Libert, S Lin, S Naisbitt, S Ramanathan, S Saeki, S Steidl, S Vartiainen, S-Y Chen, SB Pierce, SE Hong, SF Kash, SH Chung, SH Gerber, SH Satyal, SJ Kulkarni, SL Smart, SN Williams, SR Lockery, SR Wicks, SR Wicks, T Chae, T Karl, T Marui, T Melkman, T Miyasaka, T Nguyen, T Oeda, TC Kwok, TE Thorgeirsson, TG Smart, TH Lindsay, TM DeLorey, TM Stawicki, TW Abrams, V Castellani, V Schuler, VM Kalscheuer, W Li, W Li, WB Dobyns, WB Raich, WC Oh, WT Nickell, X Wang, X Wang, X Wang, X Zhang, XH Jaglin, Y Jin, Y Lu, Y Nishida, Y Sambongi, Y Zhang, YB Qi   +282 more
core   +1 more source