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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.
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
3.
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
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.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Nascent mitochondrial proteins initiate the localized condensation of cytosolic protein aggregates on the mitochondrial surface
Qingqing Liu, Benjamin Fong, Seungmin Yoo, Jay R. Unruh, Fengli Guo, Zulin Yu, Jingjing Chen, Kausik Si, Rong Li, Chuankai Zhou
Proc Natl Acad Sci U S A. 2023 Aug 1; 120(31): e2300475120. Published online 2023 Jul 26. doi: 10.1073/pnas.2300475120
PMCID:
PMC10401023
AbstractArticlePDF–12M
14.
The combined action of the intracellular regions regulates FGFR2 kinase activity
Chi-Chuan Lin, Lukasz Wieteska, Guillaume Poncet-Montange, Kin Man Suen, Stefan T. Arold, Zamal Ahmed, John E. Ladbury
Commun Biol. 2023; 6: 728. Published online 2023 Jul 14. doi: 10.1038/s42003-023-05112-6
PMCID:
PMC10349056
AbstractArticlePDF–5.4M
15.
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
16.
DOT1L activity affects neural stem cell division mode and reduces differentiation and ASNS expression
Bismark Appiah, Camila L Fullio, Chiara Ossola, Ilaria Bertani, Elena Restelli, Arquimedes Cheffer, Martina Polenghi, Christiane Haffner, Marta Garcia‐Miralles, Patrice Zeis, Martin Treppner, Patrick Bovio, Laura Schlichtholz, Aina Mas‐Sanchez, Lea Zografidou, Jennifer Winter, Harald Binder, Dominic Grün, Nereo Kalebic, Elena Taverna, Tanja Vogel
EMBO Rep. 2023 Aug; 24(8): e56233. Published online 2023 Jun 29. doi: 10.15252/embr.202256233
PMCID:
PMC10398646
AbstractArticlePDF–15M
17.
CYCLOIDEA-like genes control floral symmetry, floral orientation, and nectar guide patterning
Xia Yang, Yang Wang, Tian-Xia Liu, Qi Liu, Jing Liu, Tian-Feng Lü, Rui-Xue Yang, Feng-Xian Guo, Yin-Zheng Wang
Plant Cell. 2023 Aug; 35(8): 2799–2820. Published online 2023 May 3. doi: 10.1093/plcell/koad115
PMCID:
PMC10396386
AbstractArticlePDF–2.4M
18.
Extracellular matrix assembly stress initiates Drosophila central nervous system morphogenesis
Eduardo Serna-Morales, Besaiz J. Sánchez-Sánchez, Stefania Marcotti, Angus Nichols, Anushka Bhargava, Anca Dragu, Liisa M. Hirvonen, María-del-Carmen Díaz-de-la-Loza, Matyas Mink, Susan Cox, Emily Rayfield, Rachel M. Lee, Chad M. Hobson, Teng-Leong Chew, Brian M. Stramer
Dev Cell. 2023 May 22; 58(10): 825–835.e6. doi: 10.1016/j.devcel.2023.03.019
PMCID:
PMC10390342
AbstractArticlePDF–7.0M
19.
Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency
Giovanni Bisello, Rui P. Ribeiro, Massimiliano Perduca, Benny Danilo Belviso, Patrizia Polverino de' Laureto, Alejandro Giorgetti, Rocco Caliandro, Mariarita Bertoldi
Protein Sci. 2023 Aug; 32(8): e4732. Published online 2023 Aug 1. doi: 10.1002/pro.4732
PMCID:
PMC10382914
AbstractArticlePDF–5.4M
20.
A FRET-Based Assay for the Identification of PCNA Inhibitors
Sarah Hardebeck, Sebastian Schreiber, Annika Adick, Klaus Langer, Joachim Jose
Int J Mol Sci. 2023 Jul; 24(14): 11858. Published online 2023 Jul 24. doi: 10.3390/ijms241411858
PMCID:
PMC10380293
AbstractArticlePDF–3.0M

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