PMC Articles for MedGen (Select 413750) - PMC

Select item 103788651.

Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy

Olga Blagova, Yulia Lutokhina, Marina Vukolova, Sergey Pirozhkov, Natalia Sarkisova, Dilara Ainetdinova, Anushree Das, Marina Krot, Vera Smolyannikova, Petr Litvitsky, Elena Zaklyazminskaya, Evgeniya Kogan

Genes (Basel) 2023 Jul; 14(7): 1332. Published online 2023 Jun 24. doi: 10.3390/genes14071332

PMCID:: PMC10378865

Abstract Article PDF–1.6M

Select item 96021322.

Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review

Pannathat Soontrapa, Teerin Liewluck

Genes (Basel) 2022 Oct; 13(10): 1736. Published online 2022 Sep 27. doi: 10.3390/genes13101736

PMCID:: PMC9602132

Abstract Article PDF–1.7M

Select item 94852833.

Jon Christiansen, Anne-Katrin Güttsches, Ulrike Schara-Schmidt, Matthias Vorgerd, Christoph Heute, Corinna Preusse, Werner Stenzel, Andreas Roos

Genes Dis. 2022 Nov; 9(6): 1506–1520. Published online 2022 Feb 14. doi: 10.1016/j.gendis.2022.01.001

PMCID:: PMC9485283

Abstract Article PDF–1.2M

Select item 86735134.

Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits

Girija Thiruvengadam, Sen Chandra Sreetama, Karine Charton, Marshall Hogarth, James S. Novak, Laurence Suel-Petat, Goutam Chandra, Bruno Allard, Isabelle Richard, Jyoti K. Jaiswal

J Neuromuscul Dis. 2021; 8(Suppl 2): S243–S255. Prepublished online 2021 Oct 5. Published online 2021 Nov 30. doi: 10.3233/JND-210720

PMCID:: PMC8673513

Abstract Article PDF–1.0M

Select item 85968765.

Potent Tau Aggregation Inhibitor D‐Peptides Selected against Tau‐Repeat 2 Using Mirror Image Phage Display

Marwa Malhis, Senthilvelrajan Kaniyappan, Isabelle Aillaud, Ram Reddy Chandupatla, Lisa Marie Ramirez, Markus Zweckstetter, Anselm H. C. Horn, Eckhard Mandelkow, Heinrich Sticht, Susanne Aileen Funke

Chembiochem. 2021 Nov 3; 22(21): 3049–3059. Published online 2021 Sep 12. doi: 10.1002/cbic.202100287

PMCID:: PMC8596876

Abstract Article PDF–1.1M

Select item 68198976.

Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca²⁺ signaling of differentiated C2C12 myotubes

Tam Thi Thanh Phuong, Jieun An, Sun Hwa Park, Ami Kim, Hyun Bin Choi, Tong Mook Kang

Korean J Physiol Pharmacol. 2019 Nov; 23(6): 539–547. Published online 2019 Oct 24. doi: 10.4196/kjpp.2019.23.6.539

PMCID:: PMC6819897

Abstract Article PDF–2.4M

Select item 66494257.

Clinical and molecular findings in a cohort of ANO5‐related myopathy

André M. S. Silva, Antônio R. Coimbra-Neto, Paulo Victor S. Souza, Pablo B. Winckler, Marcus V. M. Gonçalves, Eduardo B. U. Cavalcanti, Alzira A. D. S. Carvalho, Cláudia F. D. R. Sobreira, Clara G. Camelo, Rodrigo D. H. Mendonça, Eduardo D. P. Estephan, Umbertina C. Reed, Marcela C. Machado-Costa, Mario E. T. Dourado-Junior, Vanessa C. Pereira, Marcelo M. Cruzeiro, Paulo V. P. Helito, Laís U. Aivazoglou, Leonardo V. D. Camargo, Hudson H. Gomes, Amaro J. S. D. Camargo, Wladimir B. V. D. R. Pinto, Bruno M. L. Badia, Luiz H. Libardi, Mario T. Yanagiura, Acary S. B. Oliveira, Anamarli Nucci, Jonas A. M. Saute, Marcondes C. França-Junior, Edmar Zanoteli

Ann Clin Transl Neurol. 2019 Jul; 6(7): 1225–1238. Published online 2019 Jun 11. doi: 10.1002/acn3.50801

PMCID:: PMC6649425

Abstract Article PDF–1.7M

Select item 66393038.

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells

Goutam Chandra, Aurelia Defour, Kamel Mamchoui, Kalpana Pandey, Soumya Mishra, Vincent Mouly, SenChandra Sreetama, Mohammad Mahad Ahmad, Ibrahim Mahjneh, Hiroki Morizono, Nagarajan Pattabiraman, Anant K. Menon, Jyoti K. Jaiswal

Cell Death Discov. 2019; 5: 118. Published online 2019 Jul 18. doi: 10.1038/s41420-019-0197-z

PMCID:: PMC6639303

Abstract Article PDF–3.2M

Select item 59640729.

Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations

Tingting Sui, Li Xu, Yeh Siang Lau, Di Liu, Tingjun Liu, Yandi Gao, Liangxue Lai, Renzhi Han, Zhanjun Li

Cell Death Dis. 2018 Jun; 9(6): 609. Published online 2018 May 22. doi: 10.1038/s41419-018-0674-y

Correction in:: Cell Death Dis. 2020 Jun; 11(6): 468.

PMCID:: PMC5964072

Abstract Article PDF–3.6M

Select item 590369810.

A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation‐prone Ano5 peptide

Jing Xu, Li Xu, Yeh S Lau, Yandi Gao, Steven A Moore, Renzhi Han

J Pathol Clin Res. 2018 Apr; 4(2): 135–145. Published online 2018 Mar 1. doi: 10.1002/cjp2.92

PMCID:: PMC5903698

Abstract Article PDF–866K

Select item 506258111.

Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy

Danielle A. Griffin, Ryan W. Johnson, Jarred M. Whitlock, Eric R. Pozsgai, Kristin N. Heller, William E. Grose, W. David Arnold, Zarife Sahenk, H. Criss Hartzell, Louise R. Rodino-Klapac

Hum Mol Genet. 2016 May 15; 25(10): 1900–1911. Published online 2016 Feb 23. doi: 10.1093/hmg/ddw063

PMCID:: PMC5062581

Abstract Article PDF–1.1M

Select item 468563112.

Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy

Jing Xu, Mona El Refaey, Li Xu, Lixia Zhao, Yandi Gao, Kyle Floyd, Tallib Karaze, Paul M. L. Janssen, Renzhi Han

Skelet Muscle. 2015; 5: 43. Published online 2015 Dec 21. doi: 10.1186/s13395-015-0069-z

PMCID:: PMC4685631

Abstract Article PDF–2.5M

Select item 375666213.

Physiological roles and diseases of tmem16/anoctamin proteins: are they all chloride channels?

Charity Duran, H Criss Hartzell

Acta Pharmacol Sin. 2011 Jun; 32(6): 685–692. Published online 2011 Jun 3. doi: 10.1038/aps.2011.48

PMCID:: PMC3756662

Abstract Article PDF–547K

Select item 292495114.

New monoclonal anti-mouse DC-SIGN antibodies reactive with acetone-fixed cells

Cheolho Cheong, Ines Matos, Jae-Hoon Choi, Joseph D. Schauer, Durga Bhavani Dandamudi, Elina Shrestha, Jessy A. Makeyeva, Xiaojun Li, Pingwei Li, Ralph M. Steinman, Chae Gyu Park

J Immunol Methods. Author manuscript; available in PMC 2011 Aug 31.

Published in final edited form as: J Immunol Methods. 2010 Aug 31; 360(1-2): 66–75. Published online 2010 Jun 15. doi: 10.1016/j.jim.2010.06.006

PMCID:: PMC2924951

Abstract Article PDF–1.5M

Select item 282017015.

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott, Khalil Saleki, Hiroshi Inoue, Johan Kroon, Mitsuo Itakura, Yves Robitaille, Lucie Parent, Frank Baas, Kuniko Mizuta, Nobuyuki Kamata, Isabelle Richard, Wim H.J.P. Linssen, Ibrahim Mahjneh, Marianne de Visser, Rumaisa Bashir, Bernard Brais

Am J Hum Genet. 2010 Feb 12; 86(2): 213–221. doi: 10.1016/j.ajhg.2009.12.013

PMCID:: PMC2820170

Abstract Article PDF–593K

Select item 27122316.

Six new leptospiral serovars isolated from wild animals in Peru.

J L Liceras de Hidalgo, K R Sulzer

J Clin Microbiol. 1984 Jun; 19(6): 944–945. doi: 10.1128/jcm.19.6.944-945.1984

PMCID:: PMC271223

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