PMC Articles for MedGen (Select 991608) - PMC

Simranpreet Kaur, Nicole J. Van Bergen, Kristen J. Verhey, Cameron J. Nowell, Breane Budaitis, Yang Yue, Carolyn Ellaway, Nicola Brunetti-Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Annalaura Torella, Tony Roscioli, Mark J. Cowley, Sean Massey, Rhea Sonawane, Matthew D. Burton, Bitten Schonewolf-Greulich, Zeynep Tümer, Wendy K. Chung, Wendy A. Gold, John Christodoulou

Hum Mutat. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Hum Mutat. 2020 Oct; 41(10): 1761–1774. Published online 2020 Jul 22. doi: 10.1002/humu.24079

PMCID:: PMC7908811

Abstract Article PDF–1.4M

Select item 80874015.

A highly conserved 3₁₀ helix within the kinesin motor domain is critical for kinesin function and human health

Aileen J. Lam, Lu Rao, Yuzu Anazawa, Kyoko Okada, Kyoko Chiba, Mariah Dacy, Shinsuke Niwa, Arne Gennerich, Dan W. Nowakowski, Richard J. McKenney

Sci Adv. 2021 Apr; 7(18): eabf1002. Published online 2021 Apr 30. doi: 10.1126/sciadv.abf1002

PMCID:: PMC8087401

Abstract Article PDF–1.6M

Select item 96094706.

Single-Molecule Studies on the Motion and Force Generation of the Kinesin-3 Motor KIF1A

Lu Rao, Arne Gennerich

Methods Mol Biol. Author manuscript; available in PMC 2022 Oct 27.

Published in final edited form as: Methods Mol Biol. 2022; 2478: 585–608. doi: 10.1007/978-1-0716-2229-2_21

PMCID:: PMC9609470

Abstract Article PDF–514K

Select item 106411967.

Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A

Katsuya Nakamura, Tsuneaki Yoshinaga, Minori Kodaira, Emiko Kise, Tomoki Kosho, Yoshiki Sekijima

Intern Med. 2023 Oct 15; 62(20): 3047–3051. Published online 2023 Mar 8. doi: 10.2169/internalmedicine.1184-22

PMCID:: PMC10641196

Abstract Article PDF–1.6M

Select item 106621858.

Enfermedad neurológica asociada al gen KIF1A: correlación genotipo/fenotipo

Ana Ortiz-Ortigosa, Rocío Calvo-Medina, César Ruiz-García, Rafael Vera-Medialdea, José M. Ramos-Fernández

Rev Neurol. 2023; 77(6): 141–145. Spanish. Published online 2023 Sep 16. doi: 10.33588/rn.7706.2023185

PMCID:: PMC10662185

Abstract Article PDF–766K

Select item 108350619.

A plant flavonol and genetic suppressors rescue a pathogenic mutation associated with kinesin in neurons

Yongping Chai, Dong Li, Weibin Gong, Jingyi Ke, Dianzhe Tian, Zhe Chen, Angel Guo, Zhengyang Guo, Wei Li, Wei Feng, Guangshuo Ou

Proc Natl Acad Sci U S A. 2024 Jan 30; 121(5): e2311936121. Published online 2024 Jan 25. doi: 10.1073/pnas.2311936121

PMCID:: PMC10835061

Abstract Article PDF–4.9M

Select item 996224710.

KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease

Ayushi Nair, Alosh Greeny, Rajalakshmi Rajendran, Mohamed A. Abdelgawad, Mohammed M. Ghoneim, Roshni Pushpa Raghavan, Sachithra Thazhathuveedu Sudevan, Bijo Mathew, Hoon Kim

Pharmaceuticals (Basel) 2023 Feb; 16(2): 147. Published online 2023 Jan 19. doi: 10.3390/ph16020147

PMCID:: PMC9962247

Abstract Article PDF–1.2M

Select item 624543211.

Hormone and Microorganism Treatments in the Cultivation of Saffron (Crocus Sativus L.) Plants

Alper Aytekin, Aynur Ozkul Acikgoz

Molecules. 2008 May; 13(5): 1135–1146. Published online 2008 May 13. doi: 10.3390/molecules13051135

PMCID:: PMC6245432

Abstract Article PDF–297K

Select item 1131165612.

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis

Emilien Bernard, Florent Cluse, Adrien Bohic, Marc Hermier, Cédric Raoul, Pascal Leblanc, Claire Guissart

Int J Mol Sci. 2024 Aug; 25(15): 8170. Published online 2024 Jul 26. doi: 10.3390/ijms25158170

PMCID:: PMC11311656

Abstract Article PDF–2.1M

Select item 991562313.

Cryo-EM Unveils the Processivity Mechanism of Kinesin KIF1A and the Impact of its Pathogenic Variant P305L

Matthieu P.M.H. Benoit, Lu Rao, Ana B. Asenjo, Arne Gennerich, Hernando J Sosa

Version 2. bioRxiv. Preprint. 2023 Feb 3 [revised 2023 Dec 15]. doi: 10.1101/2023.02.02.526913

Published in:: Nat Commun. 2024; 15: 5530.

PMCID:: PMC9915623

Abstract Article

Select item 794175214.

Pueraria tuberosa: A Review on Traditional Uses, Pharmacology, and Phytochemistry

Ram Bharti, Bhupinder Singh Chopra, Sachin Raut, Neeraj Khatri

Front Pharmacol. 2020; 11: 582506. Published online 2021 Jan 27. doi: 10.3389/fphar.2020.582506

PMCID:: PMC7941752

Abstract Article PDF–2.6M

Select item 437192515.

Avoided valence transition in a plutonium superconductor

B. J. Ramshaw, Arkady Shekhter, Ross D. McDonald, Jon B. Betts, J. N. Mitchell, P. H. Tobash, C. H. Mielke, E. D. Bauer, Albert Migliori

Proc Natl Acad Sci U S A. 2015 Mar 17; 112(11): 3285–3289. Published online 2015 Mar 3. doi: 10.1073/pnas.1421174112

PMCID:: PMC4371925

Abstract Article PDF–996K

Select item 798815716.

Discovery, characterization and functional improvement of kumamonamide as a novel plant growth inhibitor that disturbs plant microtubules

Takashi Ishida, Haruna Yoshimura, Masatsugu Takekawa, Takumi Higaki, Takashi Ideue, Masaki Hatano, Masayuki Igarashi, Tokio Tani, Shinichiro Sawa, Hayato Ishikawa

Sci Rep. 2021; 11: 6077. Published online 2021 Mar 23. doi: 10.1038/s41598-021-85501-1

PMCID:: PMC7988157

Abstract Article PDF–3.2M

Select item 455462117.

Kinetics studies with fruit bromelain (Ananas comosus) in the presence of cysteine and divalent ions

Tajwinder Kaur, Amandeep Kaur, Ravneet K Grewal

J Food Sci Technol. 2015 Sep; 52(9): 5954–5960. Published online 2014 Nov 14. doi: 10.1007/s13197-014-1639-5

PMCID:: PMC4554621

Abstract Article PDF–313K

Select item 805498218.

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane, Laura Hamm, Andrew Thornton, Jared T. Ahrendsen, Matthew P. Anderson, John Christodoulou, Arne Gennerich, Yufeng Shen, Wendy K. Chung

HGG Adv. 2021 Apr 8; 2(2): 100026. Published online 2021 Jan 30. doi: 10.1016/j.xhgg.2021.100026

PMCID:: PMC8054982

Abstract Article PDF–2.8M

Select item 883836019.

A Wearable Multimodal Sensing System for Tracking Changes in Pulmonary Fluid Status, Lung Sounds, and Respiratory Markers

Jesus Antonio Sanchez-Perez, John A. Berkebile, Brandi N. Nevius, Goktug C. Ozmen, Christopher J. Nichols, Venu G. Ganti, Samer A. Mabrouk, Gari D. Clifford, Rishikesan Kamaleswaran, David W. Wright, Omer T. Inan

Sensors (Basel) 2022 Feb; 22(3): 1130. Published online 2022 Feb 2. doi: 10.3390/s22031130

PMCID:: PMC8838360

Abstract Article PDF–4.0M

Select item 861722120.

Systematic review and metal analysis on three important fungal group (dermatophytes, yeasts and saprophytes) isolated from Iranian swimming pools

Pouran Makhdoumi, Parya Akbari, Nezam Mirzaei, Hooshyar Hossini, Edris Hoseinzadeh

J Environ Health Sci Eng. 2021 Dec; 19(2): 2047–2055. Published online 2021 May 3. doi: 10.1007/s40201-021-00670-5

Correction in:: J Environ Health Sci Eng. 2021 Dec; 19(2): 2057.

PMCID:: PMC8617221

Abstract Article PDF–1.0M

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