PMC Links for GEO Profiles (Select 74769116) - PMC

Angela Lek, Brenda Wong, Allison Keeler, Meghan Blackwood, Kaiyue Ma, Shushu Huang, Katelyn Sylvia, A. Rita Batista, Rebecca Artinian, Danielle Kokoski, Shestruma Parajuli, Juan Putra, C. Katte Carreon, Hart Lidov, Keryn Woodman, Sander Pajusalu, Janelle M. Spinazzola, Thomas Gallagher, Joan LaRovere, Diane Balderson, Lauren Black, Keith Sutton, Richard Horgan, Monkol Lek, Terence Flotte

N Engl J Med. Author manuscript; available in PMC 2024 Jul 30.

Published in final edited form as: N Engl J Med. 2023 Sep 28; 389(13): 1203–1210. doi: 10.1056/NEJMoa2307798

PMCID:: PMC11288170

Abstract Article PDF–1.0M

Select item 112875554.

Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism

Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu

J Med Genet. 2024 Aug; 61(8): 741–749. Published online 2024 Apr 15. doi: 10.1136/jmg-2024-109896

PMCID:: PMC11287555

Abstract Article PDF–4.2M

Select item 111363135.

Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue

T. Haenggi, J. -M. Fritschy

Cell Mol Life Sci. 2006 Jul; 63(14): 1614–1631. Published online 2006 May 15. doi: 10.1007/s00018-005-5461-0

PMCID:: PMC11136313

Abstract Article PDF–626K

Select item 110187796.

Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy

Francesco Galli, Laricia Bragg, Maira Rossi, Daisy Proietti, Laura Perani, Marco Bacigaluppi, Rossana Tonlorenzi, Tendai Sibanda, Miriam Caffarini, Avraneel Talapatra, Sabrina Santoleri, Mirella Meregalli, Beatriz Bano-Otalora, Anne Bigot, Irene Bozzoni, Chiara Bonini, Vincent Mouly, Yvan Torrente, Giulio Cossu

EMBO Mol Med. 2024 Apr; 16(4): 927–944. Published online 2024 Mar 4. doi: 10.1038/s44321-024-00031-3

Correction in:: EMBO Mol Med. 2024 Oct; 16(10): 2654.

PMCID:: PMC11018779

Abstract Article PDF–5.1M

Select item 109577117.

The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation

Dylan Da Cunha, Julie Miro, Charles Van Goethem, Cécile Notarnicola, Gérald Hugon, Gilles Carnac, Mireille Cossée, Michel Koenig, Sylvie Tuffery-Giraud

Cell Mol Life Sci. 2024 Dec; 81(1): 150. Published online 2024 Mar 21. doi: 10.1007/s00018-024-05188-1

PMCID:: PMC10957711

Abstract Article PDF–7.7M

Select item 109495658.

Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing

Jiandong Shen, Taoli Ding, Xueping Sun, Ji Yang, Yue Zhang, Jing Wang, Mengdi Ge, Heng Xu, Jiazi Xie, Fei Wang, Feiyang Diao

BMC Genomics. 2024; 25: 292. Published online 2024 Mar 19. doi: 10.1186/s12864-024-10224-2

PMCID:: PMC10949565

Abstract Article PDF–2.2M

Select item 109457079.

Comparative interactome analysis of α-arrestin families in human and Drosophila

Kyung-Tae Lee, Inez KA Pranoto, Soon-Young Kim, Hee-Joo Choi, Ngoc Bao To, Hansong Chae, Jeong-Yeon Lee, Jung-Eun Kim, Young V Kwon, Jin-Wu Nam

eLife. 2024; 12: RP88328. Published online 2024 Jan 25. doi: 10.7554/eLife.88328

PMCID:: PMC10945707

Abstract Article PDF–2.8M

Select item 1094314510.

Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions

Laura Pezzoni, Roberta Brusa, Teresa Difonzo, Francesca Magri, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Maria Cristina Saetti

Neurol Sci. 2024; 45(4): 1691–1698. Published online 2023 Nov 15. doi: 10.1007/s10072-023-07169-x

PMCID:: PMC10943145

Abstract Article PDF–531K

Select item 1094138511.

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan

Orphanet J Rare Dis. 2024; 19: 123. Published online 2024 Mar 14. doi: 10.1186/s13023-024-03128-7

PMCID:: PMC10941385

Abstract Article PDF–3.6M

Select item 1091686612.

Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma

Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn

Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255

PMCID:: PMC10916866

Abstract Article PDF–4.7M

Select item 1066857213.

Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients

Ery Kus Dwianingsih, Kristy Iskandar, Sunartini Hapsara, Chun Ping Liu, Rusdy Ghazali Malueka, Gunadi, Masafumi Matsuo, Poh San Lai

Version 3. F1000Res. 2022; 11: 148. Published online 2023 Nov 17. doi: 10.12688/f1000research.73476.3

PMCID:: PMC10668572

Abstract Article PDF–853K

Select item 1059207514.

DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies

Renee Johnson, Robyn Otway, Ephrem Chin, Claire Horvat, Monique Ohanian, Jon A.L. Wilcox, Zheng Su, Priscilla Prestes, Andrei Smolnikov, Magdalena Soka, Guanglan Guo, Emma Rath, Samya Chakravorty, Lukasz Chrzanowski, Christopher S. Hayward, Anne M. Keogh, Peter S. Macdonald, Eleni Giannoulatou, Alex C.Y. Chang, Emily C. Oates, Fadi Charchar, Jonathan G. Seidman, Christine E. Seidman, Madhuri Hegde, Diane Fatkin

Circ Genom Precis Med. Author manuscript; available in PMC 2024 Oct 1.

Published in final edited form as: Circ Genom Precis Med. 2023 Oct; 16(5): 421–430. Published online 2023 Sep 6. doi: 10.1161/CIRCGEN.123.004221

PMCID:: PMC10592075

Abstract Article PDF–848K

Select item 1048813415.

Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls

Natalie Pluta, Arpad von Moers, Astrid Pechmann, Werner Stenzel, Hans-Hilmar Goebel, David Atlan, Beat Wolf, Indrajit Nanda, Ann-Kathrin Zaum, Simone Rost

Int J Mol Sci. 2023 Sep; 24(17): 13567. Published online 2023 Sep 1. doi: 10.3390/ijms241713567

PMCID:: PMC10488134

Abstract Article PDF–3.5M

Select item 1044047516.

Some aspects of the life of SARS-CoV-2 ORF3a protein in mammalian cells

Song Jiao, Pablo Miranda, Yan Li, Dragan Maric, Miguel Holmgren

Heliyon. 2023 Aug; 9(8): e18754. Published online 2023 Aug 1. doi: 10.1016/j.heliyon.2023.e18754

PMCID:: PMC10440475

Abstract Article PDF–8.9M

Select item 1034596317.

A Multipronged Unbiased Strategy Guides the Development of an Anti-EGFR/EPHA2–Bispecific Antibody for Combination Cancer Therapy

Amr El Zawily, Frederick S. Vizeacoumar, Renuka Dahiya, Sara L. Banerjee, Kalpana K. Bhanumathy, Hussain Elhasasna, Glinton Hanover, Jessica C. Sharpe, Malkon G. Sanchez, Paul Greidanus, R. Greg Stacey, Kyung-Mee Moon, Ilya Alexandrov, Juha P. Himanen, Dimitar B. Nikolov, Humphrey Fonge, Aaron P. White, Leonard J. Foster, Bingcheng Wang, Behzad M. Toosi, Nicolas Bisson, Tajib A. Mirzabekov, Franco J. Vizeacoumar, Andrew Freywald

Clin Cancer Res. 2023 Jul 14; 29(14): 2686–2701. Published online 2023 Mar 28. doi: 10.1158/1078-0432.CCR-22-2535

PMCID:: PMC10345963

Abstract Article PDF–13M

Select item 1022974318.

TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN

Kaini Zhang, Chen Yang, Xin Zhou, Jin Liang, Jianjin Guo, Min Li, Yi Zhang, Shulin Shao, Peng Sun, Kai Li, Jingjing Huang, Fang Chen, Xiubin Liang, Dongming Su

Cell Mol Life Sci. 2023 Jun; 80(6): 168. Published online 2023 May 30. doi: 10.1007/s00018-023-04820-w

PMCID:: PMC10229743

Abstract Article PDF–2.9M

Select item 1015161519.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 1004143120.

Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis

Carlos Pascual-Morena, Iván Cavero-Redondo, Vicente Martínez-Vizcaíno, Irene Sequí-Domínguez, Jaime Fernández-Bravo-Rodrigo, Estela Jiménez-López

J Neuromuscul Dis. 2023; 10(2): 159–172. Prepublished online 2022 Dec 16. Published online 2023 Mar 7. doi: 10.3233/JND-221586

PMCID:: PMC10041431

Abstract Article PDF–495K

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