PMC Articles for MedGen (Select 816737) - PMC

Barbora Straka, Miroslav Koblížek, Barbora Splítková, Radka Valkovičová, Lenka Krsková, Markéta Kalinová, Markéta Vlčková, Josef Zámečník, Petra Laššuthová, Lucie Sedláčková, David Staněk, Alice Maulisová, Michal Tichý, Martin Kynčl, Pavel Kršek

Epilepsia Open. 2024 Feb; 9(1): 424–431. Published online 2023 Dec 14. doi: 10.1002/epi4.12863

PMCID:: PMC10839359

Article PDF–7.4M

Select item 105192065.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, SYNaPS Study Group, Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden

Genet Med. 2022 Oct; 24(10): 2194–2203. doi: 10.1016/j.gim.2022.07.013

PMCID:: PMC10519206

Article PDF–1.3M

Select item 97838426.

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome

Vanessa I. Romero, Benjamin Arias-Almeida, Stefanie A. Aguiar

BMC Genomics. 2022; 23: 849. Published online 2022 Dec 22. doi: 10.1186/s12864-022-09071-w

PMCID:: PMC9783842

Article PDF–2.0M

Select item 95695607.

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

Sumihito Togi, Hiroki Ura, Hisayo Hatanaka, Yo Niida

Int J Mol Sci. 2022 Oct; 23(19): 11175. Published online 2022 Sep 22. doi: 10.3390/ijms231911175

PMCID:: PMC9569560

Article PDF–3.0M

Select item 92912718.

SOD1 mediates lysosome-to-mitochondria communication and its dysregulation by amyloid-β oligomers

Andrés Norambuena, Xuehan Sun, Horst Wallrabe, Ruofan Cao, Naidi Sun, Evelyn Pardo, Nutan Shivange, Dora Bigler Wang, Lisa A. Post, Heather A. Ferris, Song Hu, Ammasi Periasamy, George S. Bloom

Neurobiol Dis. Author manuscript; available in PMC 2022 Jul 18.

Published in final edited form as: Neurobiol Dis. 2022 Jul; 169: 105737. Published online 2022 Apr 20. doi: 10.1016/j.nbd.2022.105737

PMCID:: PMC9291271

Article PDF–3.6M

Select item 91288189.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

Leonie von Elsner, Guoliang Chai, Pauline E Schneeberger, Frederike L Harms, Christian Casar, Minyue Qi, Malik Alawi, Ghada M H Abdel-Salam, Maha S Zaki, Florian Arndt, Xiaoxu Yang, Valentina Stanley, Maja Hempel, Joseph G Gleeson, Kerstin Kutsche

Brain. 2022 Apr; 145(4): 1551–1563. Published online 2021 Oct 25. doi: 10.1093/brain/awab403

PMCID:: PMC9128818

Article PDF–1013K

Select item 841212410.

Upregulation of the pathogenic transcription factor SPI1/PU.1 in tuberous sclerosis complex and focal cortical dysplasia by oxidative stress

Till S. Zimmer, Anatoly Korotkov, Susan Zwakenberg, Floor E. Jansen, Fried J. T. Zwartkruis, Nicholas R. Rensing, Michael Wong, Angelika Mühlebner, Erwin A. van Vliet, Eleonora Aronica, James D. Mills

Brain Pathol. 2021 Sep; 31(5): e12949. Published online 2021 Mar 30. doi: 10.1111/bpa.12949

PMCID:: PMC8412124

Article PDF–2.3M

Select item 830319311.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli

Genes (Basel) 2021 Jul; 12(7): 962. Published online 2021 Jun 24. doi: 10.3390/genes12070962

PMCID:: PMC8303193

Article PDF–1.6M

Select item 725538712.

Posterior neocortex-specific regulation of neuronal migration by CEP85L identifies maternal centriole dependent activation of CDK5

Andrew Kodani, Connor Kenny, Abbe Lai, Dilenny M Gonzalez, Edward Stronge, Gabrielle M Sejourne, Laura Isacco, Jennifer N Partlow, Anne O’Donnell, Kirsty McWalter, Alicia B Byrne, A James Barkovich, Edward Yang, R Sean Hill, Pawel Gawlinski, Wojciech Wiszniewski, Julie S Cohen, S Ali Fatemi, Kristin W Baranano, Mustafa Sahin, David G Vossler, Christopher J. Yuskaitis, Christopher A. Walsh

Neuron. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Neuron. 2020 Apr 22; 106(2): 246–255.e6. Published online 2020 Feb 24. doi: 10.1016/j.neuron.2020.01.030

PMCID:: PMC7255387

Article PDF–1.6M

Select item 693575313.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou

Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374

Correction in:: Brain. 2020 Mar; 143(3): e24.

PMCID:: PMC6935753

Article PDF–1.9M

Select item 684899514.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Tadahiro Mitani, Jaya Punetha, Ibrahim Akalin, Davut Pehlivan, Mateusz Dawidziuk, Zeynep Coban Akdemir, Sarenur Yilmaz, Ezgi Aslan, Jill V. Hunter, Hadia Hijazi, Christopher M. Grochowski, Shalini N. Jhangiani, Ender Karaca, Jawid M. Fatih, Piotr Iwanowski, Tomasz Gambin, Pawel Wlasienko, Alicja Goszczanska-Ciuchta, Monika Bekiesinska-Figatowska, Masoumeh Hosseini, Sanaz Arzhangi, Hossein Najmabadi, Jill A. Rosenfeld, Haowei Du, Dana Marafi, Susan Blaser, Ronni Teitelbaum, Rachel Silver, Baylor-Hopkins Center for Mendelian Genomics, Jennifer E. Posey, Hans-Hilger Ropers, Richard A. Gibbs, Wojciech Wiszniewski, James R. Lupski, David Chitayat, Kimia Kahrizi, Pawel Gawlinski

Am J Hum Genet. 2019 Nov 7; 105(5): 1005–1015. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.017

PMCID:: PMC6848995

Article PDF–2.3M

Select item 591636415.

mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex

Elyza Kelly, Samantha M Schaeffer, Sameer C Dhamne, Jonathan O Lipton, Lothar Lindemann, Michael Honer, Georg Jaeschke, Chloe E Super, Stephen HT Lammers, Meera E Modi, Jill L Silverman, John R Dreier, David J Kwiatkowski, Alexander Rotenberg, Mustafa Sahin

Neuropsychopharmacology. 2018 May; 43(6): 1457–1465. Prepublished online 2017 Dec 5. Published online 2018 Jan 10. doi: 10.1038/npp.2017.295

PMCID:: PMC5916364

Article PDF–387K

Select item 571190116.

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Socratis Avgeris, Florentia Fostira, Andromachi Vagena, Yiannis Ninios, Angeliki Delimitsou, Radek Vodicka, Radek Vrtel, Sotirios Youroukos, Dimitrios J. Stravopodis, Metaxia Vlassi, Aristotelis Astrinidis, Drakoulis Yannoukakos, Gerassimos E. Voutsinas

Sci Rep. 2017; 7: 16697. Published online 2017 Dec 1. doi: 10.1038/s41598-017-16988-w

PMCID:: PMC5711901

Article PDF–1.4M

Select item 554657517.

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

PLoS One. 2017; 12(8): e0181791. Published online 2017 Aug 7. doi: 10.1371/journal.pone.0181791

PMCID:: PMC5546575

Article PDF–4.9M

Select item 500544818.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Martin W. Breuss, Tipu Sultan, Kiely N. James, Rasim O. Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al-Owain, Fowzan S. Alkuraya, Miriam S. Reuter, Rami Abou Jamra, Christopher R. Trotta, Joseph G. Gleeson

Am J Hum Genet. 2016 Jul 7; 99(1): 228–235. Published online 2016 Jul 7. doi: 10.1016/j.ajhg.2016.05.023

Correction in:: Am J Hum Genet. 2016 Sep 1; 99(3): 785.

PMCID:: PMC5005448

Article PDF–1.1M

Select item 488805819.

Restoration of Normal Cerebral Oxygen Consumption with Rapamycin Treatment in a Rat Model of Autism–Tuberous Sclerosis

Oak Z. Chi, Chang-Chih Wu, Xia Liu, Kang H. Rah, Estela Jacinto, Harvey R. Weiss

Neuromolecular Med. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Neuromolecular Med. 2015 Sep; 17(3): 305–313. Published online 2015 Jun 6. doi: 10.1007/s12017-015-8359-5

PMCID:: PMC4888058

Article PDF–452K

Select item 438518120.

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, Mériam Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Ostergaard, Alain Verloes, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

Am J Hum Genet. 2015 Apr 2; 96(4): 666–674. doi: 10.1016/j.ajhg.2015.02.011

PMCID:: PMC4385181

Article PDF–1.5M

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