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Items: 1 to 20 of 500

1.
Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Kaya Bilgüvar, Ali Kemal Öztürk, Angeliki Louvi, Kenneth Y Kwan, Murim Choi, Burak Tatli, Dilek Yalnizoglu, Beyhan Tüysüz, Ahmet Okay Çaglayan, Sarenur Gökben, Hande Kaymakçalan, Tanyeri Barak, Mehmet Bakircioglu, Katsuhito Yasuno, Winson Ho, Stephan Sanders, Ying Zhu, Sanem Yilmaz, Alp Dinçer, Michele H Johnson, Richard A Bronen, Naci Koçer, Hüseyin Per, Shrikant Mane, Mehmet Necmettin Pamir, Cengiz Yalçinkaya, Sefer Kumandas, Meral Topçu, Meral Özmen, Nenad Šestan, Richard P Lifton, Matthew W State, Murat Günel
Nature. Author manuscript; available in PMC 2011 Jul 4.
Published in final edited form as: Nature. 2010 Sep 9; 467(7312): 207–210. Published online 2010 Aug 22. doi: 10.1038/nature09327
PMCID:
PMC3129007
AbstractArticlePDF–999K
2.
GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fejes, Hashem Shahin, Moien Kanaan, Hatice Akay, Mustafa Tekin, FORGE Canada Consortium, Barbara Triggs-Raine, Teresa Zelinski
Am J Hum Genet. 2012 Jun 8; 90(6): 1088–1093. doi: 10.1016/j.ajhg.2012.04.008
Correction in:
Am J Hum Genet. 2012 Jul 13; 91(1): 209.
PMCID:
PMC3370271
AbstractArticlePDF–494K
3.
Polymicrogyria-associated epilepsy: a multi-center phenotypic study from the Epilepsy Phenome/Genome Project
Catherine Shain, Sriram Ramgopal, Zianka Fallil, Isha Parulkar, Richard Alongi, Robert Knowlton, Annapurna Poduri, the EPGP Investigators
Epilepsia. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: Epilepsia. 2013 Aug; 54(8): 10.1111/epi.12238. Published online 2013 Jun 10. doi: 10.1111/epi.12238
PMCID:
PMC3851304
AbstractArticlePDF–309K
4.
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
Catherine Fallet-Bianco, Annie Laquerrière, Karine Poirier, Ferechte Razavi, Fabien Guimiot, Patricia Dias, Laurence Loeuillet, Karine Lascelles, Cherif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revencu, Marie-Claude Addor, Benoit Lhermitte, Marie Gonzales, Jelena Martinovich, Bettina Bessieres, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi-Buisson
Acta Neuropathol Commun. 2014; 2: 69. Published online 2014 Jul 25. doi: 10.1186/2051-5960-2-69
PMCID:
PMC4222268
AbstractArticlePDF–2.1M
5.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Diana Alcantara, Andrew E Timms, Karen Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Cheng, Fiona Stewart, Sarju G Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A Bernstein, Aaron M Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez-Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M Graham Jr., Robert Hevner, William B Dobyns, Mark O’Driscoll, Ghayda M Mirzaa
Brain. 2017 Oct; 140(10): 2610–2622. Published online 2017 Sep 7. doi: 10.1093/brain/awx203
PMCID:
PMC6080423
AbstractArticlePDF–907K
6.
Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities
S.A. Mandelstam, R.J. Leventer, A. Sandow, G. McGillivray, M. van Kogelenberg, R. Guerrini, S. Robertson, S.F. Berkovic, G.D. Jackson, I.E. Scheffer
AJNR Am J Neuroradiol. 2013 Feb; 34(2): 432–438. doi: 10.3174/ajnr.A3427
PMCID:
PMC7965117
AbstractArticlePDF–1.4M
7.
Nonmicrocephalic Infants with Congenital Zika Syndrome Suspected Only after Neuroimaging Evaluation Compared with Those with Microcephaly at Birth and Postnatally: How Large Is the Zika Virus “Iceberg”?
M.F.V.V. Aragao, A.C. Holanda, A.M. Brainer-Lima, N.C.L. Petribu, M. Castillo, V. van der Linden, S.C. Serpa, A.G. Tenório, P.T.C. Travassos, M.T. Cordeiro, C. Sarteschi, M.M. Valenca, A. Costello
AJNR Am J Neuroradiol. 2017 Jul; 38(7): 1427–1434. doi: 10.3174/ajnr.A5216
PMCID:
PMC7959892
AbstractArticlePDF–1.0M
8.
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort
Irma Järvelä, Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M Leal, Anna-Elina Lehesjoki, Maarit Palomäki, Isabelle Schrauwen
Brain Commun. 2024; 6(3): fcae142. Published online 2024 Apr 18. doi: 10.1093/braincomms/fcae142
PMCID:
PMC11073749
AbstractArticlePDF–565K
9.
Altered excitatory and inhibitory neocortical circuitry leads to increased convulsive severity after pentylenetetrazol injection in an animal model of schizencephaly, but not of microgyria
Luiza dos Santos Heringer, Julia Rios Carvalho, Julia Teixeira Oliveira, Bruna Texeira Silva, Domethila Mariano de Souza Aguiar dos Santos, Anna Lecticia Martinez Martinez Toledo, Laura Maria Borges Savoldi, Debora Magalhães Portela, Suelen Adriani Marques, Paula Campello Costa Lopes, Ana Maria Blanco Martinez, Henrique Rocha Mendonça
Epilepsia Open. 2022 Sep; 7(3): 462–473. Published online 2022 Jul 21. doi: 10.1002/epi4.12625
PMCID:
PMC9436300
AbstractArticlePDF–6.8M
10.
Neuroimaging Findings in Macrocephaly–Capillary Malformation: A Longitudinal Study of 17 Patients
Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez-Lara, Merlin G. Butler, Elaine Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph Shieh, John B. Moeschler, Barbara Crandall, Julie L. Lauzon, David H. Viskochil, Brian Harding, John M. Graham, Jr
Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 28.
Published in final edited form as: Am J Med Genet A. 2007 Dec 15; 143A(24): 2981–3008. doi: 10.1002/ajmg.a.32040
PMCID:
PMC6816457
AbstractArticlePDF–2.4M
11.
An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome
Ute Moog, William B. Dobyns
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Dec; 178(4): 414–422. doi: 10.1002/ajmg.c.31667
PMCID:
PMC6501825
AbstractArticlePDF–717K
12.
The role of mechanics during brain development
Silvia Budday, Paul Steinmann, Ellen Kuhl
J Mech Phys Solids. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: J Mech Phys Solids. 2014 Dec 1; 72: 75–92. Published online 2014 Aug 9. doi: 10.1016/j.jmps.2014.07.010
PMCID:
PMC4156279
AbstractArticlePDF–4.1M
13.
The minus-end depolymerase KIF2A drives flux-like treadmilling of γTuRC-uncapped microtubules
Gil Henkin, Cláudia Brito, Claire Thomas, Thomas Surrey
J Cell Biol. 2023 Oct 2; 222(10): e202304020. Published online 2023 Aug 24. doi: 10.1083/jcb.202304020
PMCID:
PMC10450741
AbstractArticlePDF–6.1M
14.
Targeting intratumor heterogeneity suppresses colorectal cancer chemoresistance and metastasis
Shanshan Chao, Fei Zhang, Huiwen Yan, Liuyang Wang, Liwen Zhang, Zhi Wang, Ruixin Xue, Lei Wang, Zhenzhen Wu, Bing Jiang, Guizhi Shi, Yuanchao Xue, Junfeng Du, Pengcheng Bu
EMBO Rep. 2023 Aug; 24(8): e56416. Published online 2023 Jun 20. doi: 10.15252/embr.202256416
PMCID:
PMC10398666
AbstractArticlePDF–6.7M
15.
Structural insights into the DNA recognition mechanism by the bacterial transcription factor PdxR
Ida Freda, Cécile Exertier, Anna Barile, Antonio Chaves-Sanjuan, Mirella Vivoli Vega, Michail N Isupov, Nicholas J Harmer, Elena Gugole, Paolo Swuec, Martino Bolognesi, Anita Scipioni, Carmelinda Savino, Martino Luigi Di Salvo, Roberto Contestabile, Beatrice Vallone, Angela Tramonti, Linda Celeste Montemiglio
Nucleic Acids Res. 2023 Aug 25; 51(15): 8237–8254. Published online 2023 Jun 28. doi: 10.1093/nar/gkad552
PMCID:
PMC10450172
AbstractArticlePDF–2.2M
16.
Drosophila embryos allocate lipid droplets to specific lineages to ensure punctual development and redox homeostasis
Marcus D. Kilwein, T. Kim Dao, Michael A. Welte
PLoS Genet. 2023 Aug; 19(8): e1010875. Published online 2023 Aug 14. doi: 10.1371/journal.pgen.1010875
PMCID:
PMC10449164
AbstractArticlePDF–5.1M
17.
Different niches for stem cells carrying the same oncogenic driver affect pathogenesis and therapy response in myeloproliferative neoplasms
Elodie Grockowiak, Claudia Korn, Justyna Rak, Veronika Lysenko, Adrien Hallou, Francesca M. Panvini, Matthew Williams, Claire Fielding, Zijian Fang, Eman Khatib-Massalha, Andrés García-García, Juan Li, Reema A. Khorshed, Sara González-Antón, E. Joanna Baxter, Anjali Kusumbe, Bridget S. Wilkins, Anna Green, Benjamin D. Simons, Claire N. Harrison, Anthony R. Green, Cristina Lo Celso, Alexandre P. A. Theocharides, Simón Méndez-Ferrer
Nat Cancer. 2023; 4(8): 1193–1209. Published online 2023 Aug 7. doi: 10.1038/s43018-023-00607-x
PMCID:
PMC10447237
AbstractArticlePDF–18M
18.
A high‐efficiency gene silencing in plants using two‐hit asymmetrical artificial MicroRNAs
Sachin Teotia, Xiaoran Wang, Na Zhou, Mengmeng Wang, Haiping Liu, Jun Qin, Dianwei Han, Chingwen Li, Christine E. Li, Shangjin Pan, Haifeng Tang, Wenjun Kang, Zhanhui Zhang, Xiaoqing Tang, Ting Peng, Guiliang Tang
Plant Biotechnol J. 2023 Sep; 21(9): 1799–1811. Published online 2023 Jul 1. doi: 10.1111/pbi.14091
PMCID:
PMC10440985
AbstractArticlePDF–6.7M
19.
Characterization of a novel interaction of the Nup159 nucleoporin with asymmetrically localized spindle pole body proteins and its link with autophagy
Inés García de Oya, Javier Manzano-López, Alejandra Álvarez-Llamas, María de la Paz Vázquez-Aroca, Cristina Cepeda-García, Fernando Monje-Casas
PLoS Biol. 2023 Aug; 21(8): e3002224. Published online 2023 Aug 3. doi: 10.1371/journal.pbio.3002224
PMCID:
PMC10437821
AbstractArticlePDF–2.9M
20.
Protein arginine methyltransferase 1 is a therapeutic vulnerability in multiple myeloma
Hong Phuong Nguyen, Anh Quynh Le, Enze Liu, Annamaria Cesarano, Francesco DiMeo, Fabiana Perna, Reuben Kapur, Brian A. Walker, Ngoc Tung Tran
Front Immunol. 2023; 14: 1239614. Published online 2023 Aug 4. doi: 10.3389/fimmu.2023.1239614
Correction in:
Front Immunol. 2023; 14: 1334733.
PMCID:
PMC10436492
AbstractArticlePDF–2.3M

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