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2022 2
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Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
Piga D, Zanotti S, Ripolone M, Napoli L, Ciscato P, Gibertini S, Maggi L, Fortunato F, Rigamonti A, Ronchi D, Comi GP, Corti S, Sciacco M. Piga D, et al. Int J Mol Sci. 2024 Jun 14;25(12):6547. doi: 10.3390/ijms25126547. Int J Mol Sci. 2024. PMID: 38928252 Free PMC article.
Next-generation sequencing analysis disclosed a heterozygous mutation c.76C>T (p.Pro26Ser) in the PDZ motif of the LDB3/ZASP gene, a mutation already described in a family with a late-onset myopathy and highly heterogenous degree of skeletal muscle weakness. In t …
Next-generation sequencing analysis disclosed a heterozygous mutation c.76C>T (p.Pro26Ser) in the PDZ motif of the LDB3/ZASP …
Identification of the Hub Gene LDB3 in Stanford Type A Aortic Dissection Based on Comprehensive Bioinformatics Analysis.
Liu X, Liu X, Wan B, Ge Y, Hu H, Yu H, Zhao M, Li H, Zhu J. Liu X, et al. J Cell Mol Med. 2025 Mar;29(6):e70471. doi: 10.1111/jcmm.70471. J Cell Mol Med. 2025. PMID: 40099963 Free PMC article.
Stanford type A aortic dissection (TAAD) is a life-threatening disease. This study explored the role of LIM domain binding 3 (LDB3) in TAAD progression. Four datasets from the Gene Expression Omnibus were analyzed to identify TAAD-related hub ge …
Stanford type A aortic dissection (TAAD) is a life-threatening disease. This study explored the role of LIM domain binding …
A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.
Svaguša T, Sedlić F, Županić S, Manola Š, Bakoš M, Mirošević V, Livun A. Svaguša T, et al. Clin Genet. 2024 Nov;106(5):659-660. doi: 10.1111/cge.14585. Epub 2024 Jul 11. Clin Genet. 2024. PMID: 38992921
Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). ...Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in w …
Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). ...Genetic analysis using the …
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR, Pan Y, Sniderman King L, Jagannathan L, Ramachander V, Lucas A, Markind J, Colzani R, Hegde M. Nallamilli BRR, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2092-2104. doi: 10.1002/acn3.51896. Epub 2023 Sep 8. Ann Clin Transl Neurol. 2023. PMID: 37688281 Free PMC article.
Genes of other overlapping MD subtypes identified included PABPN1 (10.5%, 133), VCP (2.2%, 28), MYOT (1.2% 15), LDB3 (1.0%, 13), COL6A1 (1.5%, 19), FLNC (1.1%, 14), and DNAJB6 (0.8%, 10). Different sizes of copy number variants including single exon, multi-exon, and whole …
Genes of other overlapping MD subtypes identified included PABPN1 (10.5%, 133), VCP (2.2%, 28), MYOT (1.2% 15), LDB3 (1.0%, 13), COL6 …
Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population.
Krishnaswamy SM, Arunachal G, Singh KG, Thomson VS, George P, Rao S, Danda S. Krishnaswamy SM, et al. J Appl Genet. 2024 Dec;65(4):809-822. doi: 10.1007/s13353-024-00855-2. Epub 2024 Mar 29. J Appl Genet. 2024. PMID: 38551768
Of the 10 HCM patients, candidate variants were identified in nine of them involving sarcomere genes (62%, MYBPC3, MYH6, MYH7, MYL3, TTN), Z-disc (10%, ACTN2, LDB3, NEXN,), desmosome (10%, DSG2, DSP, PKP2) cytoskeletal (4%, DTNA) and ion channel (10% RYR2). ...
Of the 10 HCM patients, candidate variants were identified in nine of them involving sarcomere genes (62%, MYBPC3, MYH6, MYH7, MYL3, TTN), Z …
A sensitive red/far-red photoswitch for controllable gene therapy in mouse models of metabolic diseases.
Qiao L, Niu L, Wang M, Wang Z, Kong D, Yu G, Ye H. Qiao L, et al. Nat Commun. 2024 Nov 27;15(1):10310. doi: 10.1038/s41467-024-54781-2. Nat Commun. 2024. PMID: 39604418 Free PMC article.
Here, we report a red/far-red light-inducible photoswitch (REDLIP) system based on the chimeric photosensory protein FnBphP (Fn-REDLIP) or PnBphP (Pn-REDLIP) and their interaction partner LDB3, which enables efficient dynamic regulation of gene expression with a timescale …
Here, we report a red/far-red light-inducible photoswitch (REDLIP) system based on the chimeric photosensory protein FnBphP (Fn-REDLIP) or P …
Integrated multi-omics analysis identifies features that predict human pluripotent stem cell-derived progenitor differentiation to cardiomyocytes.
Simmons AD, Baumann C, Zhang X, Kamp TJ, De La Fuente R, Palecek SP. Simmons AD, et al. J Mol Cell Cardiol. 2024 Nov;196:52-70. doi: 10.1016/j.yjmcc.2024.08.007. Epub 2024 Sep 1. J Mol Cell Cardiol. 2024. PMID: 39222876
Resulting analysis identifies predictive markers of CPCs that give rise to high purity CM batches, including TTN, TRIM55, DGKI, MEF2C, MAB21L2, MYL7, LDB3, SLC7A11, and CALD1. Predictive models developed from these genes provide high accuracy in determining terminal CM pur …
Resulting analysis identifies predictive markers of CPCs that give rise to high purity CM batches, including TTN, TRIM55, DGKI, MEF2C, MAB21 …
Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth.
Merc MD, Kotnik U, Peterlin B, Lovrecic L. Merc MD, et al. Prenat Diagn. 2024 Aug;44(9):1062-1072. doi: 10.1002/pd.6616. Epub 2024 May 30. Prenat Diagn. 2024. PMID: 38813989
RESULTS: The analysis revealed six rare variants with predicted effects on protein function in six genes (CASQ2, DSC2, KCNE1, LDB3, MYH6, and SCN5A) previously reported in cases of stillbirth or severe early onset pediatric cardiac related phenotypes. ...
RESULTS: The analysis revealed six rare variants with predicted effects on protein function in six genes (CASQ2, DSC2, KCNE1, LDB3, M …
Screening of potential regulatory genes in carotid atherosclerosis vascular immune microenvironment.
Zhang Y, Zhang L, Jia Y, Fang J, Zhang S, Hou X. Zhang Y, et al. PLoS One. 2024 Dec 9;19(12):e0307904. doi: 10.1371/journal.pone.0307904. eCollection 2024. PLoS One. 2024. PMID: 39652562 Free PMC article.
Finally, the hub genes PTPRC, ACTN2, ACTC1, LDB3, MYOZ2, and TPM2 had satisfactory efficacy in the diagnosis and prediction of high and low immune cell infiltration in CAS and distinguishing between early and advanced CAS samples. ...Biological processes linked to muscle c …
Finally, the hub genes PTPRC, ACTN2, ACTC1, LDB3, MYOZ2, and TPM2 had satisfactory efficacy in the diagnosis and prediction of high a …
Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.
Oommen AT, Baskar D, Polavarapu K, Vengalil S, Nashi S, Preethish-Kumar V, Sanka SB, Keerthipriya M, Thomas PT, Arunachal G, Nalini A. Oommen AT, et al. J Clin Neuromuscul Dis. 2025 Jun 2;26(4):167-175. doi: 10.1097/CND.0000000000000468. J Clin Neuromuscul Dis. 2025. PMID: 40512964
Next generation sequencing (NGS) showed the most common gene involved is DES (n = 7, 58.3%) followed by other genes such as HSPB8 (n = 1), FLNC (n = 1), CRYAB (n = 1), LDB3 (n = 1) and TTN (n = 1). CONCLUSIONS: This is the first study on clinic-genetic features of MFM from …
Next generation sequencing (NGS) showed the most common gene involved is DES (n = 7, 58.3%) followed by other genes such as HSPB8 (n = 1), F …
15 results