PMC Articles for MedGen (Select 1830482) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 35459221.

A Yeast Purification System for Human Translation Initiation Factors eIF2 and eIF2Bε and Their Use in the Diagnosis of CACH/VWM Disease

Rogerio A. de Almeida, Anne Fogli, Marina Gaillard, Gert C. Scheper, Odile Boesflug-Tanguy, Graham D. Pavitt

PLoS One. 2013; 8(1): e53958. Published online 2013 Jan 15. doi: 10.1371/journal.pone.0053958

PMCID:: PMC3545922

Abstract Article PDF–981K

Select item 29675302.

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients

Laetitia Horzinski, Liraz Kantor, Aurélia Huyghe, Raphael Schiffmann, Orna Elroy-Stein, Odile Boespflug-Tanguy, Anne Fogli

BMC Neurol. 2010; 10: 94. Published online 2010 Oct 19. doi: 10.1186/1471-2377-10-94

PMCID:: PMC2967530

Abstract Article PDF–401K

Select item 3558563.

Mutations Causing Childhood Ataxia with Central Nervous System Hypomyelination Reduce Eukaryotic Initiation Factor 2B Complex Formation and Activity

Jonathan P. Richardson, Sarah S. Mohammad, Graham D. Pavitt

Mol Cell Biol. 2004 Mar; 24(6): 2352–2363. doi: 10.1128/MCB.24.6.2352-2363.2004

PMCID:: PMC355856

Abstract Article PDF–558K

Select item 61038904.

Dstac is Required for Normal Circadian Activity Rhythms in Drosophila

I-Uen Hsu, Jeremy W. Linsley, Jade E. Varineau, Orie T. Shafer, John Y. Kuwada

Chronobiol Int. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Chronobiol Int. 2018 Jul; 35(7): 1016–1026. Published online 2018 Apr 5. doi: 10.1080/07420528.2018.1454937

PMCID:: PMC6103890

Abstract Article PDF–617K

Select item 71186945.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Dongxue Mao, Chloe M. Reuter, Maura R.Z. Ruzhnikov, Anita E. Beck, Emily G. Farrow, Lisa T. Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz-Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary K. Koenig, Madeline Graf, Alyssa Tran, Mercedes Alejandro, Undiagnosed Diseases Network, Brendan H. Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao-Tuan Chao

Am J Hum Genet. 2020 Apr 2; 106(4): 570–583. Published online 2020 Mar 19. doi: 10.1016/j.ajhg.2020.02.016

PMCID:: PMC7118694

Abstract Article PDF–2.0M

Select item 27894066.

Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders

Laetitia Horzinski, Aurélia Huyghe, Marie-Céleste Cardoso, Céline Gonthier, Lemlih Ouchchane, Raphael Schiffmann, Pierre Blanc, Odile Boespflug-Tanguy, Anne Fogli

PLoS One. 2009; 4(12): e8318. Published online 2009 Dec 15. doi: 10.1371/journal.pone.0008318

PMCID:: PMC2789406

Abstract Article PDF–225K

Select item 25830437.

A Point Mutation in Translation Initiation Factor 2B Leads to a Continuous Hyper Stress State in Oligodendroglial-Derived Cells

Liraz Kantor, Dalia Pinchasi, Michelle Mintz, Yetrib Hathout, Adeline Vanderver, Orna Elroy-Stein

PLoS One. 2008; 3(11): e3783. Published online 2008 Nov 21. doi: 10.1371/journal.pone.0003783

PMCID:: PMC2583043

Abstract Article PDF–291K

Select item 11804998.

Marjo S. van der Knaap, Carola G. M. van Berkel, Jochen Herms, Rudy van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A. A. P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christopher G. Proud, Gert C. Scheper, Jan C. Pronk

Am J Hum Genet. 2003 Nov; 73(5): 1199–1207. Published online 2003 Oct 17. doi: 10.1086/379524

PMCID:: PMC1180499

Abstract Article PDF–411K

Select item 71612749.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière

Acta Neuropathol Commun. 2020; 8: 48. Published online 2020 Apr 15. doi: 10.1186/s40478-020-00929-2

PMCID:: PMC7161274

Abstract Article PDF–1.8M

Select item 924721210.

Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter

Parith Wongkittichote, Soe Soe Mar, Robert C. McKinstry, Hoanh Nguyen

Front Genet. 2022; 13: 893057. Published online 2022 Jun 17. doi: 10.3389/fgene.2022.893057

PMCID:: PMC9247212

Abstract Article PDF–1.1M

Select item 813176711.

A community context for aggression? Multi‐species audience effects on territorial aggression in two species of Paridae

Jin Bai, Todd M. Freeberg, Jeffrey R. Lucas, Kathryn E. Sieving

Ecol Evol. 2021 May; 11(10): 5305–5319. Published online 2021 Apr 3. doi: 10.1002/ece3.7421

PMCID:: PMC8131767

Abstract Article PDF–800K

Select item 1007877012.

Commitment, perception and evidence‐based practice training in Spanish nursing students: A multicentre cross‐sectional study

Juan Gómez‐Salgado, Julián Rodríguez‐Almagro, Milagros Molina‐Alarcón, Juan Miguel Martínez‐Galiano, María del Carmen Solano‐Ruiz, Antonio Hernández Martínez

J Clin Nurs. 2023 Mar; 32(5-6): 715–725. Published online 2022 Mar 6. doi: 10.1111/jocn.16280

PMCID:: PMC10078770

Abstract Article PDF–865K

Select item 1127596113.

Survival of Salmonella spp., Escherichia coli O157:H7, and Listeria monocytogenes in Ready-to-Eat “Guacamole”: Role of Added Antimicrobials

Rameez Al Daour, Tareq M. Osaili, Lucy Semerjian, Dinesh Kumar Dhanasekaran, Leila Cheikh Ismail, Ioannis N. Savvaidis

Foods. 2024 Jul; 13(14): 2246. Published online 2024 Jul 17. doi: 10.3390/foods13142246

PMCID:: PMC11275961

Abstract Article PDF–523K

Select item 890520414.

The Concepts of Social Space and Social Value: An Interpretation of Clinical Nursing Practice in Vietnam
Các khái niệm về không gian xã hội và giá trị xã hội: diễn giải về thực hành điều dưỡng lâm sàng ở Việt Nam

Hong T. P Huynh, Carol Windsor

Glob Qual Nurs Res. 2022 Jan-Dec; 9: 23333936211070267. Published online 2022 Mar 4. doi: 10.1177/23333936211070267

PMCID:: PMC8905204

Abstract Article PDF–608K

Select item 841623515.

Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India

Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Balamurugan Nagarajan, Maya Bhat, Sanjay K. Shivappa, Naveen Benakappa

J Pediatr Genet. 2021 Sep; 10(3): 205–212. Published online 2020 Jul 27. doi: 10.1055/s-0040-1714717

PMCID:: PMC8416235

Abstract Article PDF–203K

Select item 1131512216.

Metabolomic profiles and differential metabolites of volatile components in Citrus aurantium Changshan-huyou pericarp during different growth and development stages

Qi Cui, Li-Jie Jiang, Le-Le Wen, Xiao-Li Tian, Qiang Yuan, Ju-Zhao Liu

Food Chem X. 2024 Oct 30; 23: 101631. Published online 2024 Jul 16. doi: 10.1016/j.fochx.2024.101631

PMCID:: PMC11315122

Abstract Article PDF–9.9M

Select item 948362217.

Citrus aurantium ‘Changshan-huyou’—An ethnopharmacological and phytochemical review

Liang Gao, Hui Zhang, Chun-Hui Yuan, Ling-Hui Zeng, Zheng Xiang, Jian-Feng Song, Hua-Gang Wang, Jian-Ping Jiang

Front Pharmacol. 2022; 13: 983470. Published online 2022 Sep 2. doi: 10.3389/fphar.2022.983470

PMCID:: PMC9483622

Abstract Article PDF–3.6M

Select item 683780118.

Vanishing white matter disease imaged over 3 years

Denny Mathew, Nasreen Mahomed

SA J Radiol. 2019; 23(1): 1661. Published online 2019 Feb 27. doi: 10.4102/sajr.v23i1.1661

PMCID:: PMC6837801

Abstract Article PDF–741K

Select item 406673719.

Human Brown Fat Inducible Thioesterase Variant 2 (BFIT2) Cellular Localization and Catalytic Function

Danqi Chen, John Latham, Hong Zhao, Marco Bisoffi, Jeremiah Farelli, Debra Dunaway-Mariano

Biochemistry. Author manuscript; available in PMC 2014 Jun 23.

Published in final edited form as: Biochemistry. 2012 Sep 4; 51(35): 6990–6999. Published online 2012 Aug 23. doi: 10.1021/bi3008824

PMCID:: PMC4066737

Abstract Article PDF–1.8M

Select item 320503920.

A Point Mutation in Translation Initiation Factor eIF2B Leads to Function- and Time-Specific Changes in Brain Gene Expression

Liraz Marom, Igor Ulitsky, Yuval Cabilly, Ron Shamir, Orna Elroy-Stein

PLoS One. 2011; 6(10): e26992. Published online 2011 Oct 31. doi: 10.1371/journal.pone.0026992

PMCID:: PMC3205039

Abstract Article PDF–964K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity