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Journal articles on the topic 'LDB3'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Abou Zeid, Fadi, Henri Charrier, Olivia Beseme, et al. "Lim Domain Binding 3 (Ldb3) Identified as a Potential Marker of Cardiac Extracellular Vesicles." International Journal of Molecular Sciences 23, no. 13 (2022): 7374. http://dx.doi.org/10.3390/ijms23137374.

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Extracellular vesicles (EVs) are considered as transporters of biomarkers for the diagnosis of cardiac diseases, playing an important role in cell-to-cell communication during physiological and pathological processes. However, specific markers for the isolation and analysis of cardiac EVs are missing, imposing limitation on understanding their function in heart tissue. For this, we performed multiple proteomic approaches to compare EVs isolated from neonate rat cardiomyocytes and cardiac fibroblasts by ultracentrifugation, as well as EVs isolated from minced cardiac tissue and plasma by EVtrap

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2

Wang, Hongyang, Juhyun Kim, Zhizhi Wang, Xiao-Xue Yan, Ann Dean, and Wenqing Xu. "Crystal structure of human LDB1 in complex with SSBP2." Proceedings of the National Academy of Sciences 117, no. 2 (2019): 1042–48. http://dx.doi.org/10.1073/pnas.1914181117.

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The Lim domain binding proteins (LDB1 and LDB2 in human and Chip in Drosophila) play critical roles in cell fate decisions through partnership with multiple Lim-homeobox and Lim-only proteins in diverse developmental systems including cardiogenesis, neurogenesis, and hematopoiesis. In mammalian erythroid cells, LDB1 dimerization supports long-range connections between enhancers and genes involved in erythropoiesis, including the β-globin genes. Single-stranded DNA binding proteins (SSBPs) interact specifically with the LDB/Chip conserved domain (LCCD) of LDB proteins and stabilize LDBs by prev

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3

Piga, Daniela, Simona Zanotti, Michela Ripolone, et al. "Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy." International Journal of Molecular Sciences 25, no. 12 (2024): 6547. http://dx.doi.org/10.3390/ijms25126547.

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Inclusion body myositis (IBM) is a slowly progressive disorder belonging to the idiopathic inflammatory myopathies, and it represents the most common adult-onset acquired myopathy. The main clinical features include proximal or distal muscular asymmetric weakness, with major involvement of long finger flexors and knee extensors. The main histological findings are the presence of fiber infiltrations, rimmed vacuoles, and amyloid inclusions. The etiopathogenesis is a challenge because both environmental and genetic factors are implicated in muscle degeneration and a distinction has been made pre

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Laneuville, M., J. Woulfe, P. Bourque, H. McMillan, D. Dyment, and J. Warman Chardon. "LDB3/ZASP-related myofibrillar myopathy associated with marked phenotypic variability." Neuromuscular Disorders 26 (October 2016): S192. http://dx.doi.org/10.1016/j.nmd.2016.06.383.

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Yamamoto, Takuma, Aya Miura, Kyoko Itoh, Yasuhiro Takeshima, and Hajime Nishio. "RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death." Forensic Science International 302 (September 2019): 109906. http://dx.doi.org/10.1016/j.forsciint.2019.109906.

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Dementyeva, E. V., Yu V. Vyatkin, E. I. Kretov, E. A. Elisaphenko, S. P. Medvedev, and S. M. Zakian. "Genetic analysis of patients with hypertrophic cardiomyopathy." Genes & Cells 15, no. 3 (2020): 68–73. http://dx.doi.org/10.23868/202011011.

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Hypertrophic cardiomyopathy is one of the most common cardiovascular pathologies. In most cases, the disease is caused by mutations in genes encoding for sarcomeric proteins. However, high genetic heterogeneity of hypertrophic cardiomyopathy makes it difficult to interpret results of patients' genetic studies. The aim of this study is to check if hypertrophic cardiomyopathy in 15 patients suffering from the disease is due to genetic causes. In the course of genetic analysis, a known pathogenic mutation p.Gln1233Ter in MYBPC3 causing hypertrophic cardiomyopathy was found only in one patient. In

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Nilda, Espínola-Zavaleta 1. 4. ME Soto 2. Eulo Lupi-Herrera 1. Paola Romano 1. Verónica Guarner-Lans 3. Claudia Huesca-Gómez 3. Ricardo Gamboa*3. "THE POLYMORPHISMS LDB3 (rs45618633), TAZ (rs104894941), LMNA (rs28928903), DTNA (rs7243528) AND TNNT2 G/T (rs2365652) AND ITS ASSOCIATION WITH NON-COMPACTED CARDIOMYOPATHY IN MEXICAN MESTIZO FAMILY." Indian Journal of Medical Research and Pharmaceutical Sciences 4, no. 12 (2017): 13–23. https://doi.org/10.5281/zenodo.1095889.

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<strong>Introduc</strong><strong>tion:</strong> Noncompacted cardiomyopathy (NCC) has been attributed to the mutation in multiple genes leading to interruption in the endomyocardial compaction process. <strong>Objective:</strong> The objective of this work was to identify gene variants that participated in the development of NCC in a Mexican mestizo family. <strong>Material and methods</strong>: A total of 36 (85.7%) individuals from a family of 42 members were studied. All patients underwent clinical history, transthoracic echocardiography and the polymorphisms: <em>LDB3, TAZ, LMNA,

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Larina, V. N., Yu Yu Varlamova, A. S. Skiba та I. K. Skiba. "Biventricular hypertrophic cardiomyopathy with ACTC1 and LDB3 mutations, results of primary prevention of sudden cardiac death: а case report". Russian Journal of Cardiology 30, № 5S (2025): 6224. https://doi.org/10.15829/1560-4071-2025-6224.

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Introduction. Hypertrophic cardiomyopathy (HCM) significantly increases the risk of sudden cardiac death (SCD), especially in young patients. Familial HCM requires an individual approach to risk stratification and determining indications for primary prevention of SCD.Brief description. This case describes a patient with a rare genetic anomaly (a combination of ACTC1 and LDB3 mutations). Thanks to timely diagnosis, indications for a cardioverter-defibrillator implantation were determined, which made it possible to stop an episode of ventricular fibrillation (VF). The case describes the changes

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9

Soares dos Santos Junior, Augusto C., Luciana B. Rodrigues, Raony G. Corrêa Do Carmo Lisboa Cardenas, et al. "Single Nucleotide Variants in A Family of Monozygotic Twins Discordant for the Phenotype Congenital Megaureter: A Genomic Analysis." Open Urology & Nephrology Journal 10, no. 1 (2017): 11–19. http://dx.doi.org/10.2174/1874303x01710010011.

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Introduction: Congenital megaureter constitutes the second most frequent cause of hydronephrosis in children. There is still much debate on what extent environmental or genetic factors are involved in the pathogenesis of congenital megaureter. Objectives: This study aimed at investigating a pair of monozygotic twins discordant for the expression of bilateral congenital megaureter using the whole exome sequencing technique. Methods: Peripheral blood DNA was extracted and then sequenced using the whole exome technique from a pair of twins discordant for the presence of bilateral congenital reflu

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10

Faralli, Jennifer A., Mark S. Filla, Yong-Feng Yang, et al. "Digital spatial profiling of segmental outflow regions in trabecular meshwork reveals a role for ADAM15." PLOS ONE 19, no. 2 (2024): e0298802. http://dx.doi.org/10.1371/journal.pone.0298802.

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In this study we used a spatial transcriptomics approach to identify genes specifically associated with either high or low outflow regions in the trabecular meshwork (TM) that could potentially affect aqueous humor outflow in vivo. High and low outflow regions were identified and isolated from organ cultured human anterior segments perfused with fluorescently-labeled 200 nm FluoSpheres. The NanoString GeoMx Digital Spatial Profiler (DSP) platform was then used to identified genes in the paraffin embedded tissue sections from within those regions. These transcriptome analyses revealed that 16 g

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11

Liu, Jiashuang, Lingyang Xu, Xiangbin Ding, and Yi Ma. "Genome-Wide Association Analysis of Reproductive Traits in Chinese Holstein Cattle." Genes 15, no. 1 (2023): 12. http://dx.doi.org/10.3390/genes15010012.

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This study was to explore potential SNP loci for reproductive traits in Chinese Holstein cattle and identify candidate genes. Genome-wide Association Study based on mixed linear model was performed on 643 Holstein cattle using GeneSeek Bovine 50 K SNP chip. Our results detected forty significant SNP loci after Bonferroni correction. We identified five genes (VWC2L, STAT1, PPP3CA, LDB3, and CTNNA3) as being associated with pregnancy ratio of young cows, five genes (PAEP, ACOXL, EPAS1, GLRB, and MARVELD1) as being associated with pregnancy ratio of adult cows, and nine genes (PDE1B, SLCO1A2, ARH

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12

Villard, Eric, Gilbert Habib, Erwan Donal, et al. "081 Analysis of TAZ (tafazzin) and LDB3 (LIM domain-binding3/Cypher/ZASP) genes in Left ventricular non compaction." Archives of Cardiovascular Diseases Supplements 2, no. 1 (2010): 27. http://dx.doi.org/10.1016/s1878-6480(10)70083-5.

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13

Mestroni, Luisa, Marco Merlo, Elisa Carniel, et al. "MUTATION SCREENING OF SARCOMERE GENES MYH7, MYBPC3, LDB3, AND TNNT2 IN A LARGE COHORT OF DILATED CARDIOMYOPATHY FAMILIES." Journal of the American College of Cardiology 55, no. 10 (2010): A31.E293. http://dx.doi.org/10.1016/s0735-1097(10)60294-x.

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14

Hachiya, Akira, Noriko Motoki, Yohei Akazawa, et al. "Left ventricular non-compaction revealed by aortic regurgitation due to Kawasaki disease in a boy with LDB3 mutation." Pediatrics International 58, no. 8 (2016): 797–800. http://dx.doi.org/10.1111/ped.12983.

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15

Lutokhina, Yu A., O. V. Blagova, A. G. Shestak, et al. "Combination of Arrhythmogenic Right Ventricular Dysplasia with Left Ventricular Non-Compaction as a Special Form of Cardiomyopathy: Clinic, Diagnostics, Genetic, Natural Course." Annals of the Russian academy of medical sciences 75, no. 6 (2020): 594–604. http://dx.doi.org/10.15690/vramn1245.

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Background. A few cases of combination of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) with left ventricular noncompaction (LVNC) have been described. Aims to study the genetics, diagnostical features and clinical course of the combination of ARVC with LVNC. Methods. 58 patients with ARVC diagnosis (26 men; mean age 39.1 14.2 years; mean follow-up period 21.5 [6; 60] months) and 125 patients with LVNC (74 men; mean age 46.4 15.1 years; mean follow-up period 14 [3; 40] months). All patients underwent electrocardiogram (ECG), echocardiography, 24-h ECG monitoring. Heart MRI w

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16

Zhang, Yi, Lingmin Zhang, Yunfang Jia, Jing Fang, Shuancheng Zhang, and Xianming Hou. "Screening of potential regulatory genes in carotid atherosclerosis vascular immune microenvironment." PLOS ONE 19, no. 12 (2024): e0307904. https://doi.org/10.1371/journal.pone.0307904.

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Background Immune microenvironment is one of the essential characteristics of carotid atherosclerosis (CAS), which cannot be reversed by drug therapy alone. Thus, there is a pressing need to develop novel immunoregulatory strategies to delay this pathological process that drives cardiovascular-related diseases. This study aimed to detect changes in the immune microenvironment of vascular tissues at various stages of carotid atherosclerosis, as well as cluster and stratify vascular tissue samples based on the infiltration levels of immune cell subtypes to distinguish immune phenotypes and ident

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17

Oommen, Abel Thomas, Dipti Baskar, Kiran Polavarapu, et al. "Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India." Journal of Clinical Neuromuscular Disease 26, no. 4 (2025): 167–75. https://doi.org/10.1097/cnd.0000000000000468.

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Abstract Objectives: Myofibrillar myopathy (MFM) is a group of hereditary neuromuscular disorders with heterogenous manifestations in skeletal and cardiac muscles. Little is known about phenotype-genotype spectrum of MFM in Indian population. This study aims to characterize the clinico-genetic spectrum of 12 MFM ptients from India. Methods: A detailed description of the clinical, radiological and mutation spectrum of genetically confirmed MFM patients were done. Results: The M:F ratio was 3:1. Median age of onset, presentation and illness duration were 20 (range: birth − 57 years), 31.5 (range

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18

Angelini, Corrado, Chiara Ceolin, Alicia Aurora Rodriguez, and Vincenzo Nigro. "Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study." Muscles 2, no. 2 (2023): 177–86. http://dx.doi.org/10.3390/muscles2020013.

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We describe two cases of myofibrillar myopathies, due to different gene mutations. The first was a girl with cardiomyopathy and sensory axonal neuropathy that underwent cardiac transplantation at 15 years and suffers from rotatory scoliosis due to BAG3 mutation. The second is a male patient, with evident limb-girdle weakness since age 3. Two muscle biopsies were performed at ages 3 and 15, with muscle MRI, and LDB3 gene sequence analysis also carried out. Muscle biopsies revealed the presence of dystrophic changes in the first biopsy and myopathic abnormalities in the second, and the MRI image

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19

Wang, Dong-fei, Jia-lan Lyu, Juan Fang, et al. "Impact of LDB3 gene polymorphisms on clinical presentation and implantable cardioverter defibrillator (ICD) implantation in Chinese patients with idiopathic dilated cardiomyopathy." Journal of Zhejiang University-SCIENCE B 20, no. 9 (2019): 766–75. http://dx.doi.org/10.1631/jzus.b1900017.

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20

Yamashita, Yoshihiro, Tohru Matsuura, Tatsuaki Kurosaki, et al. "LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity." Neurobiology of Disease 69 (September 2014): 200–205. http://dx.doi.org/10.1016/j.nbd.2014.05.026.

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21

Fang, Chushan, Siyi Xie, Yujie Gao, Yunfu Sun, and Xingqun Liang. "The Expression Pattern of Cypher in the Multiple Organs of Mice." Nano LIFE 11, no. 03 (2021): 2140007. http://dx.doi.org/10.1142/s1793984421400079.

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Cypher, which is named ZASP/LDB3, one of the members of PDZ-LIM family, was well known to express in cardiac and skeletal muscles which played a functional role in muscles. It has shown that global deletion of Cypher in mice leads to lethality due to dysfunction of the skeletal muscles. Recently, the MGD database has been shown that conditional deletion of Cypher or gene mutations leads to human disease, the etiology and mechanism of which remained unknown. Therefore, it might be very important that we systemically investigated the expression of Cypher in organs or tissues from developmental s

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22

Gotway, Garrett, Nathanya Baez Hernandez, and Crescenda Uhles. "P180: Biallelic loss-of function variants in LDB3 deleting the long form of the protein lead to neonatal left ventricular noncompaction cardiomyopathy." Genetics in Medicine Open 1, no. 1 (2023): 100209. http://dx.doi.org/10.1016/j.gimo.2023.100209.

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23

Sapozhnikova, Yulia P., Anastasiya G. Koroleva, Tuyana V. Sidorova, et al. "Transcriptional Rearrangements Associated with Thermal Stress and Preadaptation in Baikal Whitefish (Coregonus baicalensis)." Animals 14, no. 21 (2024): 3077. http://dx.doi.org/10.3390/ani14213077.

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In this work, we describe the transcriptional profiles of preadapted and non-adapted one-month-old juvenile Baikal whitefish after heat shock exposure. Preadapted fish were exposed to a repeated thermal rise of 6 °C above the control temperature every three days throughout their embryonic development. One month after hatching, preadapted and non-adapted larvae were either kept at control temperatures (12 °C) or exposed to an acute thermal stress (TS) of 12 °C above the control temperature. In response to this acute stress, an increase in HSP gene expression (HSP-30, HSP-40, HSP-47, HSP-70, and

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Storbeck, Chris J., Simona Wagner, Paul O'Reilly, et al. "The Ldb1 and Ldb2 Transcriptional Cofactors Interact with the Ste20-like Kinase SLK and Regulate Cell Migration." Molecular Biology of the Cell 20, no. 19 (2009): 4174–82. http://dx.doi.org/10.1091/mbc.e08-07-0707.

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Cell migration involves a multitude of signals that converge on cytoskeletal reorganization, essential for development, immune responses, and tissue repair. Here, we show that the microtubule-associated Ste20 kinase SLK, required for cell migration, interacts with the LIM domain binding transcriptional cofactor proteins Ldb1/CLIM2 and Ldb2/CLIM1/NLI. We demonstrate that Ldb1 and 2 bind directly to the SLK carboxy-terminal AT1-46 homology domain in vitro and in vivo. We find that Ldb1 and -2 colocalize with SLK in migrating cells and that both knockdown and overexpression of either factor resul

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Sierra, Verónica, Laura González-Blanco, Yolanda Diñeiro, et al. "New Insights on the Impact of Cattle Handling on Post-Mortem Myofibrillar Muscle Proteome and Meat Tenderization." Foods 10, no. 12 (2021): 3115. http://dx.doi.org/10.3390/foods10123115.

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This study investigated the effect of different cattle management strategies at farm (Intensive vs. Extensive) and during transport and lairage (mixing vs. non-mixing with unfamiliar animals) on the myofibrillar subproteome of Longissimus thoracis et lumborum (LTL) muscle of “Asturiana de los Valles” yearling bulls. It further aimed to study the relationships with beef quality traits including pH, color, and tenderness evaluated by Warner–Bratzler shear force (WBSF). Thus, comparative proteomics of the myofibrillar fraction along meat maturation (from 2 h to 14 days post-mortem) and different

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Gao, Jun, John Collyer, Maochun Wang, Fengping Sun, and Fuyi Xu. "Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq." International Journal of Molecular Sciences 21, no. 9 (2020): 3040. http://dx.doi.org/10.3390/ijms21093040.

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Hypertrophic cardiomyopathy (HCM) is an inherited disorder of the myocardium, and pathogenic mutations in the sarcomere genes myosin heavy chain 7 (MYH7) and myosin-binding protein C (MYBPC3) explain 60%–70% of observed clinical cases. The heterogeneity of phenotypes observed in HCM patients, however, suggests that novel causative genes or genetic modifiers likely exist. Here, we systemically evaluated RNA-seq data from 28 HCM patients and 9 healthy controls with pathogenic variant identification, differential expression analysis, and gene co-expression and protein–protein interaction network

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Gueta, Keren, Ahuvit David, Tsadok Cohen, et al. "The stage-dependent roles of Ldb1 and functional redundancy with Ldb2 in mammalian retinogenesis." Development 143, no. 22 (2016): 4182–92. http://dx.doi.org/10.1242/dev.129734.

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28

Sousa, Alexandra, Paulo Canedo, Manuel Campelo, et al. "Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?" Cardiology Research and Practice 2019 (April 24, 2019): 1–9. http://dx.doi.org/10.1155/2019/2743650.

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Background. Sudden cardiac death (SCD) risk stratification in dilated cardiomyopathy (DCM) has been based on left ventricular ejection fraction (LVEF), even though SCD may occur with LVEF > 35%. Family history of unexplained SCD, especially in the young, raises concern about potential inheritable risk factors. It remains largely unknown how genetic tests can be integrated into clinical practice, particularly in the selection of implantable cardioverter defibrillator (ICD) candidates. We aimed to assess the diagnostic yield of genetic testing in DCM patients with a class I recommendation for

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Pathak, P., Y. Blech-Hermoni, K. Subedi, J. Mpamugo, C. Obeng-Nyarko, and A. Mankodi. "P.84Impaired cargo-selective autophagy due to altered signaling causes the Z-disc myofibrillar disintegration in myofibrillar myopathy due to LDB3-A165V mutation in a knock-in mouse model." Neuromuscular Disorders 29 (October 2019): S65. http://dx.doi.org/10.1016/j.nmd.2019.06.113.

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Cai, Hanfang, Chaoqun Zhu, Zhilong Chen, et al. "Angiotensin II Influences Pre-mRNA Splicing Regulation by Enhancing RBM20 Transcription Through Activation of the MAPK/ELK1 Signaling Pathway." International Journal of Molecular Sciences 20, no. 20 (2019): 5059. http://dx.doi.org/10.3390/ijms20205059.

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RNA binding motif 20 (RBM20) is a key regulator of pre-mRNA splicing of titin and other genes that are associated with cardiac diseases. Hormones, like insulin, triiodothyronine (T3), and angiotensin II (Ang II), can regulate gene-splicing through RBM20, but the detailed mechanism remains unclear. This study was aimed at investigating the signaling mechanism by which hormones regulate pre-mRNA splicing through RBM20. We first examined the role of RBM20 in Z-, I-, and M-band titin splicing at different ages in wild type (WT) and RBM20 knockout (KO) rats using RT-PCR; we found that RBM20 is the

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Li, Feng, Chengdong Wang, Zhongxian Xu, et al. "Transcriptome Profiling across Five Tissues of Giant Panda." BioMed Research International 2020 (August 10, 2020): 1–13. http://dx.doi.org/10.1155/2020/3852586.

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Gene differential expression studies can serve to explore and understand the laws and characteristics of animal life activities, and the difference in gene expression between different animal tissues has been well demonstrated and studied. However, for the world-famous rare and protected species giant panda (Ailuropoda melanoleuca), only the transcriptome of the blood and spleen has been reported separately. Here, in order to explore the transcriptome differences between the different tissues of the giant panda, transcriptome profiles of the heart, liver, spleen, lung, and kidney from five cap

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Renko, Miha, Marc Fiedler, Trevor J. Rutherford, Jonas V. Schaefer, Andreas Plückthun, and Mariann Bienz. "Rotational symmetry of the structured Chip/LDB-SSDP core module of the Wnt enhanceosome." Proceedings of the National Academy of Sciences 116, no. 42 (2019): 20977–83. http://dx.doi.org/10.1073/pnas.1912705116.

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The Chip/LIM-domain binding protein (LDB)–single-stranded DNA-binding protein (SSDP) (ChiLS) complex controls numerous cell-fate decisions in animal cells, by mediating transcription of developmental control genes via remote enhancers. ChiLS is recruited to these enhancers by lineage-specific LIM-domain proteins that bind to its Chip/LDB subunit. ChiLS recently emerged as the core module of the Wnt enhanceosome, a multiprotein complex that primes developmental control genes for timely Wnt responses. ChiLS binds to NPFxD motifs within Pygopus (Pygo) and the Osa/ARID1A subunit of the BAF chromat

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Iosup, Alexandru, Tim Hegeman, Wing Lung Ngai, et al. "LDBC graphalytics." Proceedings of the VLDB Endowment 9, no. 13 (2016): 1317–28. http://dx.doi.org/10.14778/3007263.3007270.

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Yang, Liuyang, Mengqin Liu, Yunzhen Zhu, et al. "Candidate Regulatory Genes for Hindlimb Development in the Embryos of the Chinese Alligator (Alligator sinensis)." Animals 13, no. 19 (2023): 3126. http://dx.doi.org/10.3390/ani13193126.

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Crocodilians, which are a kind of animal secondary adaptation to an aquatic environment, their hindlimb can provide the power needed to engage in various life activities, even in low-oxygen water environments. The development of limbs is an important aspect of animal growth and development, as it is closely linked to body movement, support, heat production, and other critical functions. For the Chinese alligator, the hindlimb is one of the main sources of power, and its development and differentiation will directly influence the survival ability in the wild. Furthermore, a better understanding

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Kim, Dong-gyu, Eunhyang Park, and Dongsun Choi. "Optimal Positioning of Load-Distributing Band CPR Device by Body Mass Index." Journal of Clinical Medicine 13, no. 17 (2024): 5119. http://dx.doi.org/10.3390/jcm13175119.

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Background: Research investigating the optimal compression position for load-distributing bands (LDBs) in treating cardiac arrest is limited This study aimed to determine the optimal LDB position based on body mass index (BMI). Methods: A simulation study was conducted using chest and abdominal computed tomography imaging data collected with patients in the arms-down position. Participants were categorized into three BMI groups: low (<18.5 kg/m2), normal (18.5–25 kg/m2), and high (≥25 kg/m2). The assumed compression area was 20 cm below the axilla. The optimal compression position was ident

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Blagova, O. V., E. V. Zaklyazminskaya, E. A. Kogan, et al. "Syndrome of Primary Myocardial Hypertrophy: Clinical and Morphological, Genetic Diagnostics and Comparison of Sarcomerial Variants of Cardiomyopathy and its Phenocopy." Rational Pharmacotherapy in Cardiology 15, no. 4 (2019): 484–94. http://dx.doi.org/10.20996/1819-6446-2019-15-4-484-494.

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Aim. To study the nosological spectrum in the syndrome of primary left ventricle hypertrophy (PLVH) using morphological and genetic diagnostics and to compare the clinical course of true hypertrophic cardiomyopathy (HCM) and its phenocopy.Material and methods. Fifty five adult patients (29 men, 48.2±17.0 years) with PLVH (12 mm and more) were included. The exclusion criteria were athletic heart, hypertensive heart disease, severe valvular disease and other causes of secondary left ventricle (LV) hypertrophy. We performed 11 endomyocardial biopsy, 8 intraoperative biopsy, 1 study of explanted h

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Blagova, O. V., E. V. Pavlenko, N. V. Varionchik, et al. "Noncompact Myocardium with Dilated Phenotype: Manifestations, Treatment and Outcomes in Comparison with Other Forms of Dilated Cardiomyopathy Syndrome." Rational Pharmacotherapy in Cardiology 18, no. 1 (2022): 27–35. http://dx.doi.org/10.20996/1819-6446-2022-02-01.

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Aim. To study the place of NCM in the structure of DCM, its clinical features and influence on prognosis in comparison with other forms of DCM syndrome.Methods. The NCM registry includes 125 patients, mean age 46.4±15.1 years, 74 men and 51 women, median follow-up 14 [4.0; 41.0] months. The DCM registry included 365 patients, mean age 46.4±15.1 years, 253 men and 112 women, median follow-up 14 [5; 43.75] months. The examination included electrocardiography (ECG), ECG Holter monitoring, echocardiography, blood anti-heart antibody level evaluation, and additionally cardiac computed tomography, m

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Cai, Ying, Lalitha Nagarajan, and Stephen J. Brandt. "Single-Stranded DNA-Binding Proteins (SSBPs) Promote the Oligomerization of LIM-Domain Binding Protein Ldb1." Blood 112, no. 11 (2008): 2437. http://dx.doi.org/10.1182/blood.v112.11.2437.2437.

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Abstract The multifunctional LIM domain-binding protein Ldb1 is important in multiple developmental programs, including hematopoiesis. An evolutionarily conserved family of proteins with single-stranded DNA-binding activity, the SSBPs, has been shown to act as Ldb1 partners and augment its biological actions. We recently established that Ssbp2 and Ssbp3 were components of an E-box-GATA DNA-binding complex in murine erythroid progenitors containing the LIM-only protein Lmo2 and transcription factors Tal1, E2A, and Gata1 and showed these SSBPs stimulated E box-GATA DNA-binding activity and inhib

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Hiratani, I. "Selective degradation of excess Ldb1 by Rnf12/RLIM confers proper Ldb1 expression levels and Xlim-1/Ldb1 stoichiometry in Xenopus organizer functions." Development 130, no. 17 (2003): 4161–75. http://dx.doi.org/10.1242/dev.00621.

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Cai, Ying, Lalitha Nagarajan, and Stephen J. Brandt. "Single-Stranded DNA Binding Proteins (SSBPs) Interact with LDB1 Homodimers to Facilitate DNA Looping." Blood 114, no. 22 (2009): 1469. http://dx.doi.org/10.1182/blood.v114.22.1469.1469.

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Abstract Abstract 1469 Poster Board I-492 The LIM domain binding protein LDB1 is an essential cofactor of LIM-homeodomain (LIM-HD) and LIM-only (LMO) proteins in hematopoiesis and other developmental programs. We have shown that LDB1 and its LIM-HD and LMO interaction partners are protected from ubiquitylation by a small family of SSBPs. Recently, we demonstrated that these SSBPs bind to LDB1 homodimers to promote formation of a ternary complex containing two molecules of LDB1 and SSBP. This was dependent on an intact LDB1 dimerization domain (DD) and produced a shift, directly or indirectly,

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Howard, Paul W., Shall F. Jue, David G. Ransom, and Richard A. Maurer. "Regulation of LIM-domain-binding 1 protein expression by ubiquitination of Lys134." Biochemical Journal 429, no. 1 (2010): 127–36. http://dx.doi.org/10.1042/bj20091461.

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LDB1 (LIM-domain-binding 1) is a cofactor that participates in formation of transcriptional regulatory complexes involving transcription factors containing LIM domains as well as other factors. The amount of LDB1 protein in cells has previously been shown to be modulated by RNF12 (RING finger protein 12). RNF12 is an E3 ubiquitin ligase that can target LDB1 for poly-ubiquitination and degradation via the proteasome. We find that in HEK (human embryonic kidney)-293 cells expression of RNF12 leads to mono-ubiquitination of LDB1 and increased levels of LDB1 protein. Mutagenesis studies identified

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Szárnyas, Gábor, Jack Waudby, Benjamin A. Steer, et al. "The LDBC Social Network Benchmark." Proceedings of the VLDB Endowment 16, no. 4 (2022): 877–90. http://dx.doi.org/10.14778/3574245.3574270.

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The Social Network Benchmark's Business Intelligence workload (SNB BI) is a comprehensive graph OLAP benchmark targeting analytical data systems capable of supporting graph workloads. This paper marks the finalization of almost a decade of research in academia and industry via the Linked Data Benchmark Council (LDBC). SNB BI advances the state-of-the art in synthetic and scalable analytical database benchmarks in many aspects. Its base is a sophisticated data generator, implemented on a scalable distributed infrastructure, that produces a social graph with small-world phenomena, whose value pr

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Costa, Marcelo Henrique de Menezes, Lucas Lisboa Resende, Ana Luiza Machado Ribeiro Pimentel, et al. "Biomarcadores utilizados para o diagnóstico e tratamento da miocardiopatia hipertrófica: uma revisão sistemática da literatura." Brazilian Journal of Health Review 7, no. 1 (2024): 7472–83. http://dx.doi.org/10.34119/bjhrv7n1-609.

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INTRODUÇÃO: A cardiomiopatia hipertrófica (HCM) é a patologia primária genética mais comum, cuja prevalência aproximada é de 1 para cada 500 na população em geral. Essa doença apresenta-se desde forma assintomática até situações de insuficiência cardíaca avançada ou de morte súbita, muitas vezes, sem nenhuma sintomatologia prévia, tornando o seu diagnóstico precoce difícil, porém imprescindível. Em virtude disso, o uso de biomarcadores têm sido ferramentas para identificar com mais precisão indivíduos de alto risco, auxiliar no tratamento, diagnosticar com mais rapidez e na determinação de pro

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Lattimore, Chayil C., Caretia J. Washington, Dejana Braithwaite, Shama D. Karanth, and Kristianna M. Fredenburg. "Abstract 6110: Computational exploration of genomic differences in Black patients treated with chemoradiation for head and neck squamous cell carcinoma (HNSCC)." Cancer Research 84, no. 6_Supplement (2024): 6110. http://dx.doi.org/10.1158/1538-7445.am2024-6110.

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Abstract Background: Black patients treated with chemoradiation for head and neck squamous cell carcinoma (HNSCC) experience significantly worse survival outcomes than White patients treated with the same modality. Our group aims to explore potential sociodemographic and biological factors undermining this differing response to therapy. Here, we present our computational findings of genomic differences in Black compared with White HNSCC patients receiving chemoradiation. Methods: We obtained gene expression, phenotype, and clinical datasets for the Cancer Genome Atlas (TCGA) HNSCC cohort from

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Li, LiQi, Jan Y. Lee, Jennifer Gross, Sang-Hyun Song, Ann Dean, and Paul E. Love. "A requirement for Lim domain binding protein 1 in erythropoiesis." Journal of Experimental Medicine 207, no. 12 (2010): 2543–50. http://dx.doi.org/10.1084/jem.20100504.

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During erythrocyte development, the nuclear cofactor Lim domain binding protein 1 (Ldb1) functions as a core subunit of multiprotein DNA binding complexes that include the transcription factors Scl and Gata-1 and the Lim-only adapter Lmo2. Scl, Gata-1, and Lmo2 are each required for erythropoiesis, suggesting that Ldb1-nucleated transcription complexes regulate key steps during erythropoiesis. We documented a requirement for Ldb1 in erythropoiesis in mice. Analysis of ldb1−/− embryos revealed a critical requirement for Ldb1 during primitive erythropoiesis, and conditional inactivation of ldb1

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Li, LiQi, Jan Lee, Tsadok Cohen, et al. "LIM Domain Binding Protein 1 (Ldb1) is Required for the Maintenance of Hematopoietic Stem Cells (81.4)." Journal of Immunology 178, no. 1_Supplement (2007): S107. http://dx.doi.org/10.4049/jimmunol.178.supp.81.4.

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Abstract Ldb1 is a ubiquitous nuclear protein that functions by interacting with and/or recruiting specific partners (including LMO2, SCL and GATA-1) to form multi-molecular DNA-binding transcription complexes. In the hematopoietic lineage, expression of Ldb1 is highest in lineage−Sca1+c-kit+ (LSK) multipotent progenitors. Ldb1 gradually decreases as cells mature within lymphoid or granulocyte/macrophage lineages, but remains high in erythroid lineage cells. We investigated the role of Ldb1 in hematopoiesis by conditional deletion of Ldb1 using a cre transgene driven by the Tie2 promotor; or b

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Aboreden, Nicholas, Jessica Lam, Viraat Goel, et al. "LDB1 Establishes Multi-Enhancer Networks to Regulate Erythroid Gene Expression." Blood 144, Supplement 1 (2024): 537. https://doi.org/10.1182/blood-2024-210137.

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How specific enhancer-promoter pairing is established is still mostly unclear. While cohesin has been widely implicated in assisting CRE connectivity, it only influences a limited fraction of such contacts. Besides components of the CTCF/cohesin machinery, only a few nuclear factors have been studied via acute degradation to interrogate a direct/proximal role in physically connecting cis-regulatory elements (CRE). Here, we investigated the transcription co-factor LDB1 as a mediator of CRE connectivity. LDB1 is a widely expressed nuclear factor that is recruited to specific genomic sites by lin

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Guereschi, E. M. "A Nova LDB." Comunicações 3, no. 1 (1996): 18–22. http://dx.doi.org/10.15600/2238-121x/comunicacoes.v3n1p18-22.

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de Seguins Pazzis, Clément. "LDB division algebras." Journal of Algebra 423 (February 2015): 259–88. http://dx.doi.org/10.1016/j.jalgebra.2014.09.038.

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Xu, Zhixiong, Xianzhang Meng, Ying Cai, Lalitha Nagarajan, and Stephen J. Brandt. "Regulation of Ldb1 Stability and Transcriptional Complex Assembly by Single-Stranded DNA-Binding Protein SSDP2." Blood 106, no. 11 (2005): 1739. http://dx.doi.org/10.1182/blood.v106.11.1739.1739.

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Abstract The LIM domain-binding protein Ldb1 is known to form higher order complexes with LIM-homeodomain and LIM-only (LMO) proteins to regulate diverse developmental programs, including hematopoiesis. The level of Ldb1 is critical for its cellular roles, and its turnover is regulated by the E3 ubiquitin ligase RLIM. Single-stranded DNA-binding protein (SSDP), an Ldb1-interacting partner, is an essential gene for embryonic development and has been shown to regulate axis formation in Xenopus and wing development in Drosophila through Ldb1; however, the mechanisms by which SSDPs regulate these

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