PMC Articles for MedGen (Select 930822) - PMC

Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H. Döring, Stephany H. Donze, Emilia K. Bijlsma, Arie van Haeringen, Dagmar Huhle, Leonie Jestaedt, Andreas Merkenschlager, Maria Arelin, Daniel Gräfe, Sonja Neuser, Stephanie Oates, Deb K. Pal, Michael J. Parker, Johannes R. Lemke, Georg F. Hoffmann, Stefan Kölker, Inga Harting, Steffen Syrbe

Eur J Hum Genet. 2022 Mar; 30(3): 298–306. Published online 2022 Jan 11. doi: 10.1038/s41431-021-01027-0

PMCID:: PMC8904761

Abstract Article PDF–2.3M

Select item 83676295.

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes

S.K. Goergen, E. Alibrahim, J. Christie, A. Dobrotwir, M. Fahey, L. Fender, K. Frawley, S.A. Manikkam, J.R. Pinner, S. Sinnott, R. Romaniello, S.A. Sandaradura, J. Taylor, A. Vasudevan, A. Righini

AJNR Am J Neuroradiol. 2021 Aug; 42(8): 1528–1534. doi: 10.3174/ajnr.A7131

PMCID:: PMC8367629

Abstract Article PDF–1.9M

Select item 76604776.

A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse

Ines Leca, Alexander William Phillips, Iris Hofer, Lukas Landler, Lyubov Ushakova, Thomas David Cushion, Gerhard Dürnberger, Karel Stejskal, Karl Mechtler, David Anthony Keays

PLoS Genet. 2020 Nov; 16(11): e1009104. Published online 2020 Nov 2. doi: 10.1371/journal.pgen.1009104

PMCID:: PMC7660477

Abstract Article PDF–5.2M

Select item 76050937.

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development

Özge AKSEL KILIÇARSLAN, Esra ATAMAN, Semra GÜRSOY, Gürkan GÜRBÜZ, Aycan ÜNALP, Pınar GENÇPINAR, Nihal OLGAÇ DÜNDAR, Selvinaz EDİZER, Ayfer ÜLGENALP, Özlem GİRAY BOZKAYA

Turk J Med Sci. 2020; 50(6): 1573–1579. Published online 2020 Oct 22. doi: 10.3906/sag-1901-170

PMCID:: PMC7605093

Abstract Article PDF–219K

Select item 64521798.

TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity

Jayne Aiken, Jeffrey K Moore, Emily A Bates

Hum Mol Genet. 2019 Apr 15; 28(8): 1227–1243. Published online 2018 Dec 4. doi: 10.1093/hmg/ddy416

PMCID:: PMC6452179

Abstract Article PDF–52M

Select item 63714969.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp

Orphanet J Rare Dis. 2019; 14: 38. Published online 2019 Feb 11. doi: 10.1186/s13023-019-1020-x

PMCID:: PMC6371496

Abstract Article PDF–6.1M

Select item 619549110.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda M. Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill, Candace T. Myers, Jean-Baptiste Rivière, Maha S. Zaki, University of Washington Center for Mendelian Genomics, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

Genet Med. Author manuscript; available in PMC 2018 Oct 20.

Published in final edited form as: Genet Med. 2018 Nov; 20(11): 1354–1364. Published online 2018 Apr 19. doi: 10.1038/gim.2018.8

PMCID:: PMC6195491

Abstract Article PDF–785K

Select item 571324311.

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature

Annalisa Mencarelli, Paolo Prontera, Gabriela Stangoni, Elisabetta Mencaroni, Nicola Principi, Susanna Esposito

Int J Mol Sci. 2017 Nov; 18(11): 2273. Published online 2017 Oct 29. doi: 10.3390/ijms18112273

PMCID:: PMC5713243

Abstract Article PDF–1.0M

Select item 495077812.

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations

Yohei Bamba, Tomoko Shofuda, Mitsuhiro Kato, Ritsuko K. Pooh, Yoko Tateishi, Jun-ichi Takanashi, Hidetsuna Utsunomiya, Miho Sumida, Daisuke Kanematsu, Hiroshi Suemizu, Yuichiro Higuchi, Wado Akamatsu, Denis Gallagher, Freda D. Miller, Mami Yamasaki, Yonehiro Kanemura, Hideyuki Okano

Mol Brain. 2016; 9: 70. Published online 2016 Jul 19. doi: 10.1186/s13041-016-0246-y

PMCID:: PMC4950778

Abstract Article PDF–3.0M

Select item 461597913.

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

Setsuri Yokoi, Naoko Ishihara, Fuyuki Miya, Makiko Tsutsumi, Itaru Yanagihara, Naoko Fujita, Hiroyuki Yamamoto, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Seiji Kojima, Shinji Saitoh, Hiroki Kurahashi, Jun Natsume

Sci Rep. 2015; 5: 15165. Published online 2015 Oct 23. doi: 10.1038/srep15165

PMCID:: PMC4615979

Abstract Article PDF–1.1M

Select item 455081814.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Renske Oegema, Thomas D. Cushion, Ian G. Phelps, Seo-Kyung Chung, Jennifer C. Dempsey, Sarah Collins, Jonathan G.L. Mullins, Tracy Dudding, Harinder Gill, Andrew J. Green, William B. Dobyns, Gisele E. Ishak, Mark I. Rees, Dan Doherty

Hum Mol Genet. 2015 Sep 15; 24(18): 5313–5325. Published online 2015 Jun 30. doi: 10.1093/hmg/ddv250

PMCID:: PMC4550818

Abstract Article PDF–960K

Select item 422226815.

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

Abstract Article PDF–2.1M

Select item 411878416.

Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

Keiko Shimojima, Aya Narita, Yoshihiro Maegaki, Akira Saito, Toru Furukawa, Toshiyuki Yamamoto

BMC Res Notes. 2014; 7: 465. Published online 2014 Jul 22. doi: 10.1186/1756-0500-7-465

PMCID:: PMC4118784

Abstract Article PDF–1.3M

Select item 359832817.

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Karine Poirier, Yoann Saillour, Franck Fourniol, Fiona Francis, Isabelle Souville, Stéphanie Valence, Isabelle Desguerre, Jean Marie Lepage, Nathalie Boddaert, Marine Line Jacquemont, Cherif Beldjord, Jamel Chelly, Nadia Bahi-Buisson

Eur J Hum Genet. 2013 Apr; 21(4): 381–385. Published online 2012 Sep 5. doi: 10.1038/ejhg.2012.195

PMCID:: PMC3598328

Abstract Article PDF–1.2M

Select item 359560518.

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Martin Breuss, Julian Ik-Tsen Heng, Karine Poirier, Guoling Tian, Xavier Hubert Jaglin, Zhengdong Qu, Andreas Braun, Thomas Gstrein, Linh Ngo, Matilda Haas, Nadia Bahi-Buisson, Marie-Laure Moutard, Sandrine Passemard, Alain Verloes, Pierre Gressens, Yunli Xie, Kathryn J.H. Robson, Deepa Selvi Rani, Kumarasamy Thangaraj, Tim Clausen, Jamel Chelly, Nicholas Justin Cowan, David Anthony Keays

Cell Rep. 2012 Dec 27; 2(6): 1554–1562. doi: 10.1016/j.celrep.2012.11.017

PMCID:: PMC3595605

Abstract Article

Select item 356522119.

Genetics and biology of microcephaly and lissencephaly

Ganeshwaran H. Mochida

Semin Pediatr Neurol. Author manuscript; available in PMC 2013 Feb 6.

Published in final edited form as: Semin Pediatr Neurol. 2009 Sep; 16(3): 120–126. doi: 10.1016/j.spen.2009.07.001

PMCID:: PMC3565221

Abstract Article PDF–1.0M

Select item 331908120.

Distinct α and β–tubulin isotypes are required for the positioning, differentiation, and survival of neurons: new support for the “multi-tubulin” hypothesis

Max A. Tischfield, Elizabeth C. Engle

Biosci Rep. Author manuscript; available in PMC 2012 Apr 4.

Published in final edited form as: Biosci Rep. 2010 Apr 15; 30(5): 319–330. Published online 2010 Apr 15. doi: 10.1042/BSR20100025

PMCID:: PMC3319081

Abstract Article PDF–4.3M

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