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Select item 106059011.

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R

Yonika A. Larasati, Gonzalo P. Solis, Alexey Koval, Silja T. Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M. Korff, Vladimir L. Katanaev

Cells. 2023 Oct; 12(20): 2469. Published online 2023 Oct 17. doi: 10.3390/cells12202469

PMCID:: PMC10605901

Abstract Article PDF–7.0M

Select item 100779742.

Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa

Luiz Felipe Vasconcellos, Vinicius Pinheiro Soares, Lucas Leroux de Ricchezza

Tremor Other Hyperkinet Mov (N Y) 2023; 13: 11. Published online 2023 Apr 3. doi: 10.5334/tohm.746

PMCID:: PMC10077974

Abstract Article PDF–838K

Select item 100479683.

Visual Function in Children with GNAO1-Related Encephalopathy

Maria Luigia Gambardella, Elisa Pede, Lorenzo Orazi, Simona Leone, Michela Quintiliani, Giulia Maria Amorelli, Maria Petrianni, Marta Galanti, Filippo Amore, Elisa Musto, Marco Perulli, Ilaria Contaldo, Chiara Veredice, Eugenio Maria Mercuri, Domenica Immacolata Battaglia, Daniela Ricci

Genes (Basel) 2023 Mar; 14(3): 544. Published online 2023 Feb 22. doi: 10.3390/genes14030544

PMCID:: PMC10047968

Abstract Article PDF–245K

Select item 95456344.

Highlighting the Dystonic Phenotype Related to GNAO1

Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro‐Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Jr, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim

Mov Disord. 2022 Jul; 37(7): 1547–1554. Published online 2022 Jun 20. doi: 10.1002/mds.29074

PMCID:: PMC9545634

Abstract Article PDF–733K

Select item 86545235.

GNAO1 as a Novel Predictive Biomarker for Late Relapse in Hepatocellular Carcinoma

Meiling Du, Jie Feng, Yiran Tao, Qincong Pan, Fengyuan Chen

J Healthc Eng. 2021; 2021: 7631815. Published online 2021 Nov 30. doi: 10.1155/2021/7631815

PMCID:: PMC8654523

Abstract Article PDF–1.1M

Select item 55808666.

Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations

Huijie Feng, Benita Sjögren, Behirda Karaj, Vincent Shaw, Aysegul Gezer, Richard R. Neubig

Neurology. 2017 Aug 22; 89(8): 762–770. doi: 10.1212/WNL.0000000000004262

PMCID:: PMC5580866

Abstract Article PDF–574K

Select item 53621877.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren J. Carss, F. Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C. Dale, Shekeeb S. Mohammad, Ubaid Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A. Kurian, Renzo Guerrini

Neurol Genet. 2017 Apr; 3(2): e143. Published online 2017 Mar 21. doi: 10.1212/NXG.0000000000000143

PMCID:: PMC5362187

Abstract Article PDF–762K

Select item 52421818.

Endothelial Cells from Capillary Malformations are Enriched for Somatic GNAQ Mutations

Javier A. Couto, Lan Huang, Matthew P. Vivero, Nolan Kamitaki, Reid A. Maclellan, John B. Mulliken, Joyce Bischoff, Matthew L. Warman, Arin K. Greene

Plast Reconstr Surg. Author manuscript; available in PMC 2017 Jan 18.

Published in final edited form as: Plast Reconstr Surg. 2016 Jan; 137(1): 77e–82e. doi: 10.1097/PRS.0000000000001868

PMCID:: PMC5242181

Abstract Article PDF–821K

Select item 47952329.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saito, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

Eur J Hum Genet. 2016 Jan; 24(1): 129–134. Published online 2015 May 13. doi: 10.1038/ejhg.2015.92

PMCID:: PMC4795232

Abstract Article PDF–1.8M

Select item 411008210.

Identification of plasma biomarker candidates in glioblastoma using an antibody-array-based proteomic approach

Klemen Zupancic, Andrej Blejec, Ana Herman, Matija Veber, Urska Verbovsek, Marjan Korsic, Miomir Knezevic, Primoz Rozman, Tamara Lah Turnsek, Kristina Gruden, Helena Motaln

Radiol Oncol. 2014 Sep; 48(3): 257–266. Published online 2014 Jul 10. doi: 10.2478/raon-2014-0014

PMCID:: PMC4110082

Abstract Article PDF–626K

Select item 409016611.

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

Karen L. Oliver, Vesna Lukic, Natalie P. Thorne, Samuel F. Berkovic, Ingrid E. Scheffer, Melanie Bahlo

PLoS One. 2014; 9(7): e102079. Published online 2014 Jul 9. doi: 10.1371/journal.pone.0102079

PMCID:: PMC4090166

Abstract Article PDF–2.0M

Select item 377551112.

The down-regulation of GNAO1 and its promoting role in hepatocellular carcinoma

Xiaoyu Pei, Jun Zhang, Lijun Wu, Bin Lü, Xiaojiao Zhang, Dongqin Yang, Jie Liu

Biosci Rep. 2013; 33(5): e00069. Prepublished online 2013 Aug 29. Published online 2013 Sep 17. doi: 10.1042/BSR20130001

PMCID:: PMC3775511

Abstract Article PDF–685K

Select item 376991913.

De Novo Mutations in GNAO1, Encoding a Gα_o Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita, Masaaki Shiina, Mitsuhiro Kato, Hideki Hoshino, Hiroshi Terashima, Hitoshi Osaka, Shinichi Nakamura, Jun Tohyama, Tatsuro Kumada, Tomonori Furukawa, Satomi Iwata, Takashi Shiihara, Masaya Kubota, Satoko Miyatake, Eriko Koshimizu, Kiyomi Nishiyama, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Kiyoshi Hayasaka, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu

Am J Hum Genet. 2013 Sep 5; 93(3): 496–505. doi: 10.1016/j.ajhg.2013.07.014

PMCID:: PMC3769919

Abstract Article PDF–2.3M

Select item 121888214.

Analysis of the N-terminal binding domain of Go alpha.

L Busconi, B M Denker

Biochem J. 1997 Nov 15; 328(Pt 1): 23–31. doi: 10.1042/bj3280023

PMCID:: PMC1218882

Summary PDF–358K

Select item 5136615.

Structure of the human gene and two rat cDNAs encoding the alpha chain of GTP-binding regulatory protein Go: two different mRNAs are generated by alternative splicing.

T Tsukamoto, R Toyama, H Itoh, T Kozasa, M Matsuoka, Y Kaziro

Proc Natl Acad Sci U S A. 1991 Apr 15; 88(8): 2974–2978. doi: 10.1073/pnas.88.8.2974

PMCID:: PMC51366

Summary Page Browse PDF–1.2M

Select item 892206216.

G0S2 regulates innate immunity in Kawasaki disease via lncRNA HSD11B1-AS1

Mako Okabe, Shinya Takarada, Nariaki Miyao, Hideyuki Nakaoka, Keijiro Ibuki, Sayaka Ozawa, Kazuhiro Watanabe, Harue Tsuji, Ikuo Hashimoto, Kiyoshi Hatasaki, Shotaro Hayakawa, Yu Hamaguchi, Michiaki Hamada, Fukiko Ichida, Keiichi Hirono

Pediatr Res. 2022; 92(2): 378–387. Published online 2022 Mar 15. doi: 10.1038/s41390-022-01999-9