Full text in PMC (nucleotide) for Gene (Select 2521) - PMC

Laure Dumont, Mark B. Richardson, Phillip van der Peet, Danushka S. Marapana, Tony Triglia, Matthew W. A. Dixon, Alan F. Cowman, Spencer J. Williams, Leann Tilley, Malcolm J. McConville, Simon A. Cobbold

mBio. 2019 Nov-Dec; 10(6): e02060-19. Published online 2019 Dec 10. doi: 10.1128/mBio.02060-19

PMCID:: PMC6904873

Article PDF–1003K

Select item 69002765.

CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent stem cells

Xie Yingjun, Xie Yuhuan, Chen Yuchang, Li Dongzhi, Wang Ding, Song Bing, Yang Yi, Lu Dian, Xue Yanting, Xiong Zeyu, Liu Nengqing, Chen Diyu, Sun Xiaofang

Ann Hematol. 2019; 98(12): 2661–2671. Published online 2019 Sep 9. doi: 10.1007/s00277-019-03763-2

PMCID:: PMC6900276

Article PDF–11M

Select item 68562966.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza

Front Neurosci. 2019; 13: 1135. Published online 2019 Nov 8. doi: 10.3389/fnins.2019.01135

PMCID:: PMC6856296

Article PDF–1.7M

Select item 68185767.

Hb I: A α‐globin chain variant causing unexpected HbA_1c results

Anping Xu, Jian Sun, Jie Li, Weidong Chen, Ruoyang Zheng, Zhonghou Han, Ling Ji

J Clin Lab Anal. 2019 Feb; 33(2): e22671. Published online 2018 Sep 17. doi: 10.1002/jcla.22671

PMCID:: PMC6818576

Article PDF–474K

Select item 67426658.

Differentiation but not ALS mutations in FUS rewires motor neuron metabolism

Tijs Vandoorne, Koen Veys, Wenting Guo, Adria Sicart, Katlijn Vints, Ann Swijsen, Matthieu Moisse, Guy Eelen, Natalia V. Gounko, Laura Fumagalli, Raheem Fazal, Christine Germeys, Annelies Quaegebeur, Sarah-Maria Fendt, Peter Carmeliet, Catherine Verfaillie, Philip Van Damme, Bart Ghesquière, Katrien De Bock, Ludo Van Den Bosch

Nat Commun. 2019; 10: 4147. Published online 2019 Sep 12. doi: 10.1038/s41467-019-12099-4

PMCID:: PMC6742665

Article PDF–1.5M

Select item 67213859.

Anoctamin 3: A Possible Link between Cluster Headache and Ca²⁺ Signaling

Caroline Ran, Carmen Fourier, Donia Arafa, Franziska Liesecke, Christina Sjöstrand, Elisabet Waldenlind, Anna Steinberg, Andrea Carmine Belin

Brain Sci. 2019 Aug; 9(8): 184. Published online 2019 Jul 30. doi: 10.3390/brainsci9080184

PMCID:: PMC6721385

Article PDF–786K

Select item 672104910.

The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes

Miriam Ciani, Cristian Bonvicini, Catia Scassellati, Matteo Carrara, Carlo Maj, Silvia Fostinelli, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi

Int J Mol Sci. 2019 Aug; 20(16): 3903. Published online 2019 Aug 10. doi: 10.3390/ijms20163903

PMCID:: PMC6721049

Article PDF–258K

Select item 670733511.

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort

Kornélia Tripolszki, Piyush Gampawar, Helena Schmidt, Zsófia F. Nagy, Dóra Nagy, Péter Klivényi, József I. Engelhardt, Márta Széll

Front Genet. 2019; 10: 732. Published online 2019 Aug 16. doi: 10.3389/fgene.2019.00732

PMCID:: PMC6707335

Article PDF–1.0M

Select item 670268712.

Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity

María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez

Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17

PMCID:: PMC6702687

Article PDF–1.3M

Select item 664222413.

Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons

Tetsuya Akiyama, Naoki Suzuki, Mitsuru Ishikawa, Koki Fujimori, Takefumi Sone, Jiro Kawada, Ryo Funayama, Fumiyoshi Fujishima, Shio Mitsuzawa, Kensuke Ikeda, Hiroya Ono, Tomomi Shijo, Shion Osana, Matsuyuki Shirota, Tadashi Nakagawa, Yasuo Kitajima, Ayumi Nishiyama, Rumiko Izumi, Satoru Morimoto, Yohei Okada, Takayuki Kamei, Mayumi Nishida, Masahiro Nogami, Shohei Kaneda, Yoshiho Ikeuchi, Hiroaki Mitsuhashi, Keiko Nakayama, Teruo Fujii, Hitoshi Warita, Hideyuki Okano, Masashi Aoki

EBioMedicine. 2019 Jul; 45: 362–378. Published online 2019 Jun 29. doi: 10.1016/j.ebiom.2019.06.013

PMCID:: PMC6642224

Article PDF–3.4M

Select item 661380014.

Molecular interactions underlying liquid-liquid phase separation of the FUS low complexity domain

Anastasia C. Murthy, Gregory L. Dignon, Yelena Kan, Gül H. Zerze, Sapun H. Parekh, Jeetain Mittal, Nicolas L. Fawzi

Nat Struct Mol Biol. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Nat Struct Mol Biol. 2019 Jul; 26(7): 637–648. Published online 2019 Jul 1. doi: 10.1038/s41594-019-0250-x

PMCID:: PMC6613800

Article PDF–1.4M

Select item 659353515.

Fused in sarcoma silences HIV gene transcription and maintains viral latency through suppressing AFF4 gene activation

Simona Krasnopolsky, Lital Marom, Rachel A. Victor, Alona Kuzmina, Jacob C. Schwartz, Koh Fujinaga, Ran Taube

Retrovirology. 2019; 16: 16. Published online 2019 Jun 25. doi: 10.1186/s12977-019-0478-x

PMCID:: PMC6593535

Article PDF–2.5M

Select item 655387516.

Frontotemporal dementia spectrum: first genetic screen in a Greek cohort

Eliana Marisa Ramos, Christos Koros, Deepika Reddy Dokuru, Victoria Van Berlo, Christos Kroupis, Kevin Wojta, Qing Wang, Nikolaos Andronas, Stavroula Matsi, Ion N. Beratis, Alden Y. Huang, Suzee E. Lee, Anastasios Bonakis, Chryseis Florou-Hatziyiannidou, Stella Fragkiadaki, Dionysia Kontaxopoulou, Dimitrios Agiomyrgiannakis, Vasiliki Kamtsadeli, Niki Tsinia, Vasiliki Papastefanopoulou, Maria Stamelou, Bruce L. Miller, Leonidas Stefanis, John D. Papatriantafyllou, Sokratis G. Papageorgiou, Giovanni Coppola

Neurobiol Aging. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Neurobiol Aging. 2019 Mar; 75: 224.e1–224.e8. Published online 2018 Nov 3. doi: 10.1016/j.neurobiolaging.2018.10.029