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Select item 99934341.

ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of Nemaline Myopathy

Melanie Gartz, Margaret Haberman, Jessica Sutton, Rebecca A. Slick, Shawn M. Luttrell, David L. Mack, Michael W. Lawlor

Exp Cell Res. Author manuscript; available in PMC 2024 Mar 15.

Published in final edited form as: Exp Cell Res. 2023 Mar 15; 424(2): 113507. Published online 2023 Feb 14. doi: 10.1016/j.yexcr.2023.113507

PMCID:: PMC9993434

Article PDF–1.4M

Select item 87908712.

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

Yu Zhang, Hui Yan, Jieyu Liu, Huifang Yan, Yinan Ma, Cuijie Wei, Zhaoxia Wang, Hui Xiong, Xingzhi Chang

BMC Pediatr. 2022; 22: 65. Published online 2022 Jan 26. doi: 10.1186/s12887-021-03024-0

PMCID:: PMC8790871

Article PDF–1.5M

Select item 58215333.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)

B. Joureau, J.M. de Winter, S. Conijn, S.J.P. Bogaards, I. Kovacevic, A. Kalganov, M. Persson, J. Lindqvist, G.J.M. Stienen, T.C. Irving, W. Ma, M. Yuen, N.F. Clarke, D.E. Rassier, E. Malfatti, N.B. Romero, A.H. Beggs, C.A.C Ottenheijm

Ann Neurol. Author manuscript; available in PMC 2019 Feb 6.

Published in final edited form as: Ann Neurol. 2018 Feb; 83(2): 269–282. Published online 2018 Feb 6. doi: 10.1002/ana.25144

PMCID:: PMC5821533

Article PDF–1.7M

Select item 58214054.

Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein

Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Avnika A. Ruparelia, Robert J. Bryson-Richardson

PLoS Genet. 2018 Feb; 14(2): e1007212. Published online 2018 Feb 8. doi: 10.1371/journal.pgen.1007212

PMCID:: PMC5821405

Article PDF–7.6M

Select item 97689245.

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox, J. Aerts, the International Working Group of Gaucher Disease (IWGGD)

Orphanet J Rare Dis. 2022; 17: 442. Published online 2022 Dec 21. doi: 10.1186/s13023-022-02573-6

PMCID:: PMC9768924

Article PDF–1.4M

Select item 68125386.

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Teerin Liewluck, Zhiyv Niu, Steven A. Moore, Mohammad Alsharabati, Margherita Milone

Neuromuscul Disord. Author manuscript; available in PMC 2019 Oct 24.

Published in final edited form as: Neuromuscul Disord. 2019 May; 29(5): 388–391. Published online 2019 Mar 2. doi: 10.1016/j.nmd.2019.02.012

PMCID:: PMC6812538

Article PDF–778K

Select item 44042937.

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

Jariya Waisayarat, Chinnawut Suriyonplengsaeng, Chaiyos Khongkhatithum, Mana Rochanawutanon

Diagn Pathol. 2015; 10: 27. Published online 2015 Apr 16. doi: 10.1186/s13000-015-0270-8

PMCID:: PMC4404293

Article PDF–1.2M

Select item 110149948.

Possible involvement of zinc transporter ZIP13 in myogenic differentiation

Masaki Shoji, Takuto Ohashi, Saki Nagase, Haato Yuri, Kenta Ichihashi, Teruhisa Takagishi, Yuji Nagata, Yuki Nomura, Ayako Fukunaka, Sae Kenjou, Hatsuna Miyake, Takafumi Hara, Emi Yoshigai, Yoshio Fujitani, Hidetoshi Sakurai, Heloísa G. dos Santos, Toshiyuki Fukada, Takashi Kuzuhara

Sci Rep. 2024; 14: 8052. Published online 2024 Apr 12. doi: 10.1038/s41598-024-56912-7

PMCID:: PMC11014994

Article PDF–2.6M

Select item 110148169.

Genetic characterization of a locus responsible for low pungency using EMS-induced mutants in Capsicum annuum L.

Seungki Back, Jung-Min Kim, Hayoung Choi, Joung-Ho Lee, Koeun Han, Doyeon Hwang, Jin-Kyung Kwon, Byoung-Cheorl Kang

Theor Appl Genet. 2024; 137(5): 101. Published online 2024 Apr 12. doi: 10.1007/s00122-024-04602-3

PMCID:: PMC11014816

Article PDF–4.1M

Select item 1101196210.

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model

Louise Medaer, Dries David, Maxime Smits, Elena Levtchenko, Maurilio Sampaolesi, Rik Gijsbers

Cells. 2024 Apr; 13(7): 646. Published online 2024 Apr 6. doi: 10.3390/cells13070646

PMCID:: PMC11011962

Article PDF–5.9M

Select item 1101189311.

Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism

Leon-Phillip Szepanowski, Wasco Wruck, Julia Kapr, Andrea Rossi, Ellen Fritsche, Jean Krutmann, James Adjaye

Cells. 2024 Apr; 13(7): 591. Published online 2024 Mar 28. doi: 10.3390/cells13070591

PMCID:: PMC11011893

Article PDF–22M

Select item 1101162212.

Characterization of Spodoptera littoralis (Lepidoptera: Noctuidae) resistance to indoxacarb: inheritance mode, realized heritability, and fitness costs

El-Sayed M S Mokbel, Moataz A M Moustafa, Nawal Abdulaziz Alfuhaid, Eman A Fouad

J Econ Entomol. 2024 Apr; 117(2): 618–628. Published online 2024 Feb 20. doi: 10.1093/jee/toae024

PMCID:: PMC11011622

Article PDF–8.2M

Select item 1101156013.

Identification of the Efficient Enhancer Elements in FVIII-Padua for Gene Therapy Study of Hemophilia A

Rou Xiao, Yan Chen, Zhiqing Hu, Qiyu Tang, Peiyun Wang, Miaojin Zhou, Lingqian Wu, Desheng Liang

Int J Mol Sci. 2024 Apr; 25(7): 3635. Published online 2024 Mar 24. doi: 10.3390/ijms25073635

PMCID:: PMC11011560

Article PDF–8.6M

Select item 1101135414.

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease

Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

Cells. 2024 Apr; 13(7): 601. Published online 2024 Mar 29. doi: 10.3390/cells13070601

PMCID:: PMC11011354

Article PDF–2.2M

Select item 1100988715.

Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia

Tomas Brutvan, Otakar Psenicka, Jarmila Krizova, Marcela Kotasova, Jana Jezkova

Am J Case Rep. 2024; 25: e943005-1–e943005-6. Published online 2024 Apr 7. doi: 10.12659/AJCR.943005

PMCID:: PMC11009887

Article PDF–801K

Select item 1100791216.

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J. del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio del Castillo

BMC Genomics. 2024; 25: 359. Published online 2024 Apr 11. doi: 10.1186/s12864-024-10289-z