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Journal articles on the topic 'D4Z4 ROLE'

Author: Grafiati

Published: 9 March 2023

Last updated: 19 July 2025

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1

Pikó, Henriett, Mária Judit Molnár, Ágnes Herczegfalvi, Péter Mayer, and Veronika Karcagi. "Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy." Orvosi Hetilap 152, no. 39 (2011): 1576–85. http://dx.doi.org/10.1556/oh.2011.29179.

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Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat region on 4q35. In addition, epigenetic modifying factors play a role in the complex pathomechanism of the disease. Aims: Introduction of a new diagnostic panel in Hungary for the extended molecular analysis of the disease which also provides new insights into the pathomechanism. Methods: In total, DNA samples of 185 clinically diagnosed FSHD patients and 71 asymptomatic relatives were analyzed by EcoRI and BlnI restriction digestion and Southern blot technique with probe p13-E11. Furth

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Tam, Rose, Kelly P. Smith, and Jeanne B. Lawrence. "The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres." Journal of Cell Biology 167, no. 2 (2004): 269–79. http://dx.doi.org/10.1083/jcb.200403128.

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This paper investigates the nuclear localization of human telomeres and, specifically, the 4q35 subtelomere mutated in facioscapulohumeral dystrophy (FSHD). FSHD is a common muscular dystrophy that has been linked to contraction of D4Z4 tandem repeats, widely postulated to affect distant gene expression. Most human telomeres, such as 17q and 17p, avoid the nuclear periphery to reside within the internal, euchromatic compartment. In contrast, 4q35 localizes at the peripheral heterochromatin with 4p more internal, generating a reproducible chromosome orientation that we relate to gene expression

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Weisenberger, Daniel J., Mihaela Velicescu, Jonathan C. Cheng, Felicidad A. Gonzales, Gangning Liang, and Peter A. Jones. "Role of the DNA Methyltransferase Variant DNMT3b3 in DNA Methylation." Molecular Cancer Research 2, no. 1 (2004): 62–72. http://dx.doi.org/10.1158/1541-7786.62.2.1.

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Abstract Several alternatively spliced variants of DNA methyltransferase (DNMT) 3b have been described. Here, we identified new murine Dnmt3b mRNA isoforms and found that mouse embryonic stem (ES) cells expressed only Dnmt3b transcripts that contained exons 10 and 11, whereas the Dnmt3b transcripts in somatic cells lacked these exons, suggesting that this region is important for embryonic development. DNMT3b2 and 3b3 were the major isoforms expressed in human cell lines and the mRNA levels of these isoforms closely correlated with their protein levels. Although DNMT3b3 may be catalytically ina

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DeSimone, Alec M., Anna Pakula, Angela Lek, and Charles P. Emerson. "Facioscapulohumeral Muscular Dystrophy." Comprehensive Physiology 7, no. 4 (2017): 1229–79. https://doi.org/10.1002/j.2040-4603.2017.tb00779.x.

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ABSTRACTFacioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex genetic and epigenetic etiology that has only recently been well described. The most prevalent form of the disease, FSHD1, is associated with the contraction of the D4Z4 microsatellite repeat array located on a permissive 4qA chromosome. D4Z4 contra

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Fabbri, G., C. Fiorillo, C. Borsato, et al. "D.P.1.04 Size and number of D4Z4 alleles play a role in FSHD phenotype." Neuromuscular Disorders 18, no. 9-10 (2008): 727. http://dx.doi.org/10.1016/j.nmd.2008.06.017.

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6

Caputo, Valerio, Domenica Megalizzi, Carlo Fabrizio, et al. "Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD." Cells 11, no. 17 (2022): 2687. http://dx.doi.org/10.3390/cells11172687.

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Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype–phenotype correlation of patients and families, raising the need for further research and data. Thus, the present review provides an update of the main molecular aspects underlying the complex architecture of FSHD, including the genetic factors (related to D4Z4 repeated units and FSHD-associated genes), epigenetic elements (D4Z4 methylation status, non-coding RNAs and high-or

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de la Kethulle de Ryhove, Laurence, Eugénie Ansseau, Charlotte Nachtegael, et al. "The Role of D4Z4-Encoded Proteins in the Osteogenic Differentiation of Mesenchymal Stromal Cells Isolated from Bone Marrow." Stem Cells and Development 24, no. 22 (2015): 2674–86. http://dx.doi.org/10.1089/scd.2014.0575.

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8

Winokur, S. T., B. Ulla, J. C. Vargas, J. J. Wasmuth, and M. R. Altherr. "The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region." Human Molecular Genetics 6, no. 3 (1997): 502. http://dx.doi.org/10.1093/hmg/6.3.502.

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9

Winokur, S. "The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region [published erratum appears in Hum Mol Genet 1997 Mar;6(3):502]." Human Molecular Genetics 5, no. 10 (1996): 1567–75. http://dx.doi.org/10.1093/hmg/5.10.1567.

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Calvo, C. F., A. Bernard, S. Huet, E. Leroy, L. Boumsell, and A. Senik. "Regulation of immunoglobulin synthesis by human T cell subsets as defined by anti-D44 monoclonal antibody within the CD4+ and CD8+ subpopulations." Journal of Immunology 136, no. 4 (1986): 1144–49. http://dx.doi.org/10.4049/jimmunol.136.4.1144.

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Abstract In our previous paper, we demonstrated that anti-D44 MAb can, in the presence of complement, eliminate all the allocytotoxicity generated during a mixed lymphocyte reaction without affecting the alloproliferative response. As approximately 70% of CD4+ cells and 30% of CD8+ will be stained with anti-D44 MAb, we researched the functional role of the D44+ and D44- cells in each of these T cell subsets in the PWM-induced antibody response. We found that most of the helper activity for immunoglobulin (Ig) synthesis was mediated by CD4+ D44+ lymphocytes and that virtually all the suppressiv

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SONG-NABA, Florent, and Baouindsida Hermann BONKOUNGOU. "Le rôle des compétences interculturelles dans le management responsable de l’absentéisme du personnel recruté localement dans une entreprise minière au Burkina Faso." Management international 28, no. 5 (2024): 0. http://dx.doi.org/10.59876/a-q8ss-d4z7.

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The study analyses the role that intercultural competence plays in enabling a sustainable management ofabsenteeism among locally recruited staff working for a mining company in Burkina Faso. The findingsshow that managers’ mobilisation of intercultural competence helps to transcend the binary logic ofopposing economic vs. ethical responsibility, thereby instrumentalising CSR as aprofit-maximisation strategy without obviating the socio-economic needs of populations living in the vicinity of these miningsites. The end result is a management style where sanctions and/or the threat of being fired

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Georgantzís, Nikolaos, and Jean-Christian Tisserand. "The Role of Individual Risk Attitudes on Old Wine Valuations." Journal of Wine Economics 14, no. 4 (2019): 417–26. http://dx.doi.org/10.1017/jwe.2019.43.

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AbstractIn this article, we report the results of an experiment designed to address the effect of risk attitudes on valuations of aged wines. We find that higher risk taking in the economic domain is associated with a significantly higher willingness to pay for an old wine. Given the increasing interest of consumers and investors in old wines, our results are applicable to the pricing of old wines and to the use of auctions as an efficient willingness to pay elicitation mechanism. (JEL Classifications: C91, D44, L66)

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Ausubel, Lawrence M. "An Efficient Ascending-Bid Auction for Multiple Objects: Reply." American Economic Review 108, no. 2 (2018): 561–63. http://dx.doi.org/10.1257/aer.20171408.

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In a comment, Okamoto (2018 ) identifies and corrects a misspecification of the rationing rule in Ausubel (2004 ). This reply elaborates on the observation that the optimality of truthful bidding in dynamic auctions may be sensitive to the fine details of the rationing rule. It then discusses the wider role of sequential bid processing in restoring truthful bidding. (JEL D44)

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Saadatian-derakhshandeh, Farahnaz, Omid Safarzadeh, and Amir Saiid Shirani. "Estimation of Control Rod Worth in a VVER-1000 Reactor using DRAGON4 and DONJON4." Nukleonika 59, no. 2 (2014): 67–72. http://dx.doi.org/10.2478/nuka-2014-0006.

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Abstract One of the main issues in safety and control systems design of power and research reactors is to prevent accidents or reduce the imposed hazard. Control rod worth plays an important role in safety and control of reactors. In this paper, we developed a justifiable approach called D4D4 to estimate the control rod worth of a VVER-1000 reactor that enables to perform the best estimate analysis and reduce the conservatism that utilize DRAGON4 and DONJON4. The results are compared with WIMS-D4/CITATION to show the effectiveness and superiority of the developed package in predicting reactivi

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Liu, Qingmin, Konrad Mierendorff, Xianwen Shi, and Weijie Zhong. "Auctions with Limited Commitment." American Economic Review 109, no. 3 (2019): 876–910. http://dx.doi.org/10.1257/aer.20170882.

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We study the role of limited commitment in a standard auction environment. In each period, the seller can commit to an auction with a reserve price but not to future reserve prices. We characterize the set of equilibrium profits attainable for the seller as the period length vanishes. An immediate sale by efficient auction is optimal when there are at least three buyers. For many natural distributions two buyers is enough. Otherwise, we give conditions under which the maximal profit is attained through continuously declining reserve prices. (JEL D44, D82)

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Elsinger, Helmut, Philipp Schmidt-Dengler, and Christine Zulehner. "Competition in Treasury Auctions." American Economic Journal: Microeconomics 11, no. 1 (2019): 157–84. http://dx.doi.org/10.1257/mic.20170039.

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We investigate the role of competition on the outcome of Austrian Treasury auctions. Austria’s EU accession led to an increase in the number of banks participating in treasury auctions. We use structural estimates of bidders’ private values to examine the effect of increased competition on auction performance. We find robust evidence that bidders’ surplus dropped sharply after EU accession, but less than reduced form estimates would suggest. The difference can be explained by reduced form estimates not taking into account the increase in valuations upon EU accession. (JEL D44, E63, G21, H63)

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Goeree, Jacob K., Margaret A. McConnell, Tiffany Mitchell, Tracey Tromp, and Leeat Yariv. "The 1/d Law of Giving." American Economic Journal: Microeconomics 2, no. 1 (2010): 183–203. http://dx.doi.org/10.1257/mic.2.1.183.

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We combine survey data on friendship networks and individual characteristics with experimental observations from dictator games. Dictator offers are primarily explained by social distance, giving follows a simple inverse distance law. While student demographics play a minor role in explaining offer amounts, individual heterogeneity is important for network formation. In particular, we detect significant homophilous behavior; students connect to others similar to themselves. Moreover, the network data reveal a strong preference for cliques, students connect to those already close. The study is

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Lacetera, Nicola, Bradley J. Larsen, Devin G. Pope, and Justin R. Sydnor. "Bid Takers or Market Makers? The Effect of Auctioneers on Auction Outcome." American Economic Journal: Microeconomics 8, no. 4 (2016): 195–229. http://dx.doi.org/10.1257/mic.20150020.

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Auction design has been studied extensively; however, within a given design, does the process of how an auction is conducted matter as well? We address this question by looking for heterogeneity in the performance of auctioneers in English auctions. We analyze over 850,000 wholesale used car auctions and find significant differences across auctioneers in outcomes for otherwise similar cars. The performance heterogeneities are stable across time and correlate with subjective evaluations by the auction house. We discuss the mechanisms driving differential performance and find evidence suggesting

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Bergemann, Dirk, and Johannes Hörner. "Should First-Price Auctions Be Transparent?" American Economic Journal: Microeconomics 10, no. 3 (2018): 177–218. http://dx.doi.org/10.1257/mic.20160278.

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We investigate the role of market transparency in repeated first-price auctions. We consider a setting with independent private and persistent values. We analyze three distinct disclosure regimes regarding the bid and award history. In the minimal disclosure regime, each bidder only learns privately whether he won or lost the auction. In equilibrium, the allocation is efficient, and the minimal disclosure regime does not give rise to pooling equilibria. In contrast, in disclosure settings where either all or only the winner’s bids are public, an inefficient pooling equilibrium with low revenue

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Fedorov, V. A., I. A. Volkhin, S. S. Khrushchev, T. K. Antal, and I. B. Kovalenko. "Role of Charged Amino Acid Residues of Plastocyanin in Interaction with Cytochrome B6f Complex and Photosystem I of Higher Plants: A Study Using the Brownian Dynamics Method." Mathematical Biology and Bioinformatics 18, no. 2 (2023): 434–45. http://dx.doi.org/10.17537/2023.18.434.

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Plastocyanin is an electron carrier protein in the electron transport chain of chloroplasts, carrying out the transfer of an electron from cytochrome f of the cytochrome b6f complex to photosystem I. Using the method of Brownian dynamics, the process of formation of the encounter complex of plastocyanin and photosystem I of higher plants was studied. The electrostatic properties of proteins were studied, and the most important amino acid residues for their interaction were identified. It was shown that plastocyanin contacts the positively charged alpha-helix protruding into the lumen of the F

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Dinerstein, Michael, Liran Einav, Jonathan Levin, and Neel Sundaresan. "Consumer Price Search and Platform Design in Internet Commerce." American Economic Review 108, no. 7 (2018): 1820–59. http://dx.doi.org/10.1257/aer.20171218.

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The platform design, the process that helps potential buyers on the internet navigate toward products they may purchase, plays a critical role in reducing search frictions and determining market outcomes. We study a key trade-off associated with two important roles of efficient platform design: guiding consumers to their most desired product while also strengthening seller incentives to lower prices. We use simple theory to illustrate this, and then combine detailed browsing data from eBay and an equilibrium model of consumer search and price competition to quantitatively assess this trade-off

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Plott, Charles R., and Kirill Pogorelskiy. "Call Market Experiments: Efficiency and Price Discovery through Multiple Calls and Emergent Newton Adjustments." American Economic Journal: Microeconomics 9, no. 4 (2017): 1–41. http://dx.doi.org/10.1257/mic.20150201.

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We study multiple-unit, laboratory experimental call markets in which orders are cleared by a single price at a scheduled “call.” The markets are independent trading “days” with two calls each day preceded by a continuous and public order flow. Markets approach the competitive equilibrium over time. The price formation dynamics operate through the flow of bids and asks configured as the “jaws” of the order book with contract execution featuring elements of an underlying mathematical principle, the Newton-Raphson method for solving systems of equations. Both excess demand and its slope play a s

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Ostrovsky, Michael. "Choice-Screen Auctions." American Economic Review 113, no. 9 (2023): 2486–505. http://dx.doi.org/10.1257/aer.20220699.

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Choice screen auctions have been recently deployed in 31 European countries, allowing consumers to choose their preferred search engine on Google’s Android platform instead of being automatically defaulted to Google’s own search engine. I show that a seemingly minor detail in the design of these auctions—whether they are conducted on a “per appearance” or a “per install” basis—plays a major role in the mix and characteristics of auction winners and, consequently, in their expected market share. Furthermore, per install auctions distort search engines’ incentives. Empirical evidence from Androi

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Krasnokutskaya, Elena, Christian Terwiesch, and Lucia Tiererova. "Trading across Borders in Online Auctions." American Economic Journal: Microeconomics 10, no. 4 (2018): 27–66. http://dx.doi.org/10.1257/mic.20160309.

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We invoke the insights from the auction literature to study trade in services using data from an online market for programming support. We find that the observed clustering of trade between countries can be rationalized through a model featuring endogenous sorting of sellers who are heterogeneous in both quality and costs across projects offered by buyers who differ in outside option and willingness to pay for quality. To accommodate the possibility of such an outcome we extend a single-auction entry model to a setting where sellers choose among multiple projects. This feature plays an importa

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Lozynskyi, Yurii, and Taras Torubka. "Smart Information Board Based on PSOC 6 MCU." Advances in Cyber-Physical Systems 7, no. 1 (2022): 29–37. http://dx.doi.org/10.23939/acps2022.01.029.

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Nowadays, the development of electronics and related technologies is very fast. An extremely significant role in the life of moder society is took by information output devices, the development and modernization of which is an urgent task. Using the idea regarding wireless control of remote devices, an information board with remote control was developed. This article provides a reader with the development of universal information board which customers will be able to assemble for the dimensions that they need. The created device displays text news from websites, displays time and important mes

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Yang, Ya-Chin, Jui-Yi Hsieh, and Chung-Chin Kuo. "The external pore loop interacts with S6 and S3-S4 linker in domain 4 to assume an essential role in gating control and anticonvulsant action in the Na+ channel." Journal of General Physiology 134, no. 2 (2009): 95–113. http://dx.doi.org/10.1085/jgp.200810158.

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Carbamazepine, phenytoin, and lamotrigine are widely prescribed anticonvulsants in neurological clinics. These drugs bind to the same receptor site, probably with the diphenyl motif in their structure, to inhibit the Na+ channel. However, the location of the drug receptor remains controversial. In this study, we demonstrate close proximity and potential interaction between an external aromatic residue (W1716 in the external pore loop) and an internal aromatic residue (F1764 in the pore-lining part of the sixth transmembrane segment, S6) of domain 4 (D4), both being closely related to anticonvu

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Thi, Tu Ngoc Phan, Ardi Ardi, and Warnita Warnita. "The Effect of Jussiaea Octovalvis Weed Densities on the Growth and Yield of Several Introduced Vietnam Rice (Oryza Sativa) Varieties." International Journal of Agricultural Sciences 4, no. 1 (2021): 43. http://dx.doi.org/10.25077/ijasc.4.1.43-52.2020.

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Rice is staple grain production that plays an important role in food security and the socio-economic value of agriculture in South East Asia countries. Among the factors that have negative effects on rice, weed is the major one. Its production constraint is directly seeded rice; besides, weed also affects rice growth and yield by competition about light, water, nutrient, space. Jussiaea octovalvis is a kind of weed in the field during rice growth to mature, which affects the growth and yield of rice but not significantly different based on this research. Treatments were arranged factorially in

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Kwon, Eun-Bin, Hye-Jin Yang, Young-Soo Kim, Wei Li, and Jang-Gi Choi. "8-O-(E-p-methoxycinnamoyl)harpagide Inhibits Influenza A Virus Infection by Suppressing Intracellular Calcium." Molecules 26, no. 4 (2021): 1029. http://dx.doi.org/10.3390/molecules26041029.

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Calcium (Ca2+) dependent signaling circuit plays a critical role in influenza A virus (IAV) infection. The 8-O-(E-p-methoxycinnamoyl)harpagide (MCH) exhibits pharmacological activities that exert neuroprotective, hepatoprotective, anti-inflammatory and other biological effects. However, not have reports of antiviral effects. To investigate the antiviral activity of MCH on IAV-infected human lung cells mediated by calcium regulation. We examined the inhibitory effect of MCH on IAV infections and measured the level of viral proteins upon MCH treatment using Western blotting. We also performed mo

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Brito Dos Santos, Susana, Athanasios Mantalaris, and Nicki Panoskaltsis. "Establishment of a Spontaneous Stromal Microenvironment from Cord Blood Supports Human Dynamic Erythropoietic Temporal Maturation in Long-Term Serum- and Cytokine-Free 3D Cultures and Reveals a Distinct CD44hi Population." Blood 134, Supplement_1 (2019): 2219. http://dx.doi.org/10.1182/blood-2019-131085.

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Dynamic cultures which can represent physiologic erythropoiesis in vitro require a three-dimensional (3D) architecture with a supportive microenvironment and addition of erythropoietin (EPO). We have previously reported on a 3D bone marrow (BM) biomimicry using polyurethane scaffolds to expand cord blood mononuclear cells (CBMNCs) in a serum- and cytokine-free environment, without addition of dexamethasone, for 28 days (D). CBMNCs were seeded (4x106 cells/scaffold), supplemented with 10ng/mL stem cell factor (SCF; D0-D28) and 100mU/mL EPO (D7-D28), with medium exchange every 3D and exposed to

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Bouwman, Linde F., Bianca den Hamer, Elwin P. Verveer, et al. "Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice." Skeletal Muscle 10, no. 1 (2020). http://dx.doi.org/10.1186/s13395-020-00247-0.

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Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4 in skeletal muscle cells. Apart from SMCHD1, DNMT3B was recently identified as a disease gene and disease modifier in FSHD. However, the exact role of DNMT3B at the D4Z4 repeat array remains unknown. Methods To determine the role of Dnmt3b on DUX4 repression, hemizygous mice with a FSHD-sized D4Z4 repeat array (D4Z4-2.5 mice) were cross-bred with mice carrying an in-frame exon skipping mutation in Dnmt3b (Dnmt3bMommeD14 mice). Additiona

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Bouwman, Linde F., Hamer Bianca den, Elwin P. Verveer, et al. "Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice." October 1, 2020. https://doi.org/10.1186/s13395-020-00247-0.

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<strong>Background: </strong>Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4 in skeletal muscle cells. Apart from SMCHD1, DNMT3B was recently identified as a disease gene and disease modifier in FSHD. However, the exact role of DNMT3B at the D4Z4 repeat array remains unknown. <strong>Methods: </strong>To determine the role of Dnmt3b on DUX4 repression, hemizygous mice with a FSHD-sized D4Z4 repeat array (D4Z4-2.5 mice) were cross-bred with mice carrying an in-frame exon skipping mutation in Dn

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Lemmers, Richard J. L. F., Patrick J. Vliet, David San Leon Granado, et al. "High resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect." Human Molecular Genetics, September 24, 2021. http://dx.doi.org/10.1093/hmg/ddab250.

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Abstract Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy clinically characterized by weakness in the facial, shoulder girdle and upper arm muscles. FSHD is caused by chromatin relaxation of the D4Z4 macrosatellite repeat, mostly by a repeat contraction, facilitating ectopic expression of DUX4 in skeletal muscle. Genetic diagnosis for FSHD is generally based on the sizing and haplotyping of the D4Z4 repeat on chromosome 4 by Southern blotting, molecular combing or single-molecule optical mapping, which is usually straight forward but can be complicated by atypical rearran

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Tapia del Fierro, Andres, Bianca den Hamer, Natalia Benetti, et al. "SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease." Nature Communications 14, no. 1 (2023). http://dx.doi.org/10.1038/s41467-023-40992-6.

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AbstractThe interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental targets. Moreover, it also results in enhanced silencing at the facioscapulohumeral muscular dystrophy associated macrosatellite-array, D4Z4, resulting in enhanced repression of DUX4 encoded by this repeat. Heightened SMCHD1 silencing perturbs developmental Hox gene activation, causing a homeotic transformation in mice. Paradoxically, the mutant SMCHD

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Engal, Eden, Aveksha Sharma, Uria Aviel, et al. "DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis." Science Advances 10, no. 22 (2024). http://dx.doi.org/10.1126/sciadv.adn7732.

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Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is a noncanonical SMC protein and an epigenetic regulator. Mutations in SMCHD1 cause facioscapulohumeral muscular dystrophy (FSHD), by overexpressing DUX4 in muscle cells. Here, we demonstrate that SMCHD1 is a key regulator of alternative splicing in various cell types. We show how SMCHD1 loss causes splicing alterations of DNMT3B, which can lead to hypomethylation and DUX4 overexpression. Analyzing RNA sequencing data from muscle biopsies of patients with FSHD and Smchd1 knocked out cells, we found mis-splicing

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Wong, Matthew Man-Kin, Sarah Hachmer, Ed Gardner, et al. "SMCHD1 activates the expression of genes required for the expansion of human myoblasts." Nucleic Acids Research, July 12, 2024. http://dx.doi.org/10.1093/nar/gkae600.

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Abstract SMCHD1 is an epigenetic regulatory protein known to modulate the targeted repression of large chromatin domains. Diminished SMCHD1 function in muscle fibers causes Facioscapulohumeral Muscular Dystrophy (FSHD2) through derepression of the D4Z4 chromatin domain, an event which permits the aberrant expression of the disease-causing gene DUX4. Given that SMCHD1 plays a broader role in establishing the cellular epigenome, we examined whether loss of SMCHD1 function might affect muscle homeostasis through additional mechanisms. Here we show that acute depletion of SMCHD1 results in a DUX4-

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van den Heuvel, Anita, Saskia Lassche, Karlien Mul, et al. "Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers." Scientific Reports 12, no. 1 (2022). http://dx.doi.org/10.1038/s41598-022-04817-8.

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AbstractWith several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly important. Considering the spatiotemporal nature of FSHD disease activity, clinical trials would benefit from non-invasive imaging-based biomarkers that can predict FSHD-associated transcriptome changes. This study investigated two FSHD-associated transcriptome signatures (DUX4 and PAX7 signatures) in FSHD skeletal muscle biopsies, and tested their correlation with a variety of disease-associated factors, including Ricci clinical se

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Mocciaro, Emanuele, Roberto Giambruno, Stefano Micheloni, et al. "WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy." Nucleic Acids Research, April 6, 2023. http://dx.doi.org/10.1093/nar/gkad230.

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Abstract Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent neuromuscular disorders. The disease is linked to copy number reduction and/or epigenetic alterations of the D4Z4 macrosatellite on chromosome 4q35 and associated with aberrant gain of expression of the transcription factor DUX4, which triggers a pro-apoptotic transcriptional program leading to muscle wasting. As today, no cure or therapeutic option is available to FSHD patients. Given its centrality in FSHD, blocking DUX4 expression with small molecule drugs is an attractive option. We previously showed that t

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Lizhi, L., X. Zhang, C. Zhang, et al. "P-276 Telomeres cooperate in zygotic genome activation by affecting DUX4/Dux transcription." Human Reproduction 38, Supplement_1 (2023). http://dx.doi.org/10.1093/humrep/dead093.634.

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Abstract Study question Whether the activation of DUX4, a key inducer in the process of zygotic genome activation (ZGA), is associated with telomere length. Summary answer Telomeres regulate the expression of DUX4/Dux through chromatin remodeling and are thereby involved in ZGA. What is known already In human early embryos, the expression of DUX4 is activated as a key inducer in the initial stage of ZGA, and it, in turn, activates hundreds of genes in the cleavage-stage embryo. Human DUX4 is localized to the subtelomeric region 4q35.2 with a D4Z4 repeat of approximately 10 to 100 units that en

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Gu, Peng, Rongjuan Wei, Ruofan Liu, et al. "Aging‐induced Alternation in the Gut Microbiota Impairs Host Antibacterial Defense." Advanced Science, January 10, 2025. https://doi.org/10.1002/advs.202411008.

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AbstractOlder individuals experience increased susceptibility and mortality to bacterial infections, but the underlying etiology remains unclear. Herein, it is shown that aging‐associated reduction of commensal Parabacteroides goldsteinii (P. goldsteinii) in both aged mice and humans critically contributes to worse outcomes of bacterial infection. The colonization of live P. goldsteinii conferred protection against aging‐associated bacterial infections. Metabolomic profiling reveals a protective compound, apigenin, generated by P. goldsteinii, antagonizes bacterial clearance defects in aged mi

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Nalam, Pranav, Paul D. Cook, and Brian A. Smith. "Structural and Biochemical Characterization of Aminoglycoside Nucleotidyltransferase(6)‐Ib From Campylobacter fetus subsp. fetus." Proteins: Structure, Function, and Bioinformatics, September 9, 2024. http://dx.doi.org/10.1002/prot.26745.

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ABSTRACTAminoglycoside antibiotics have played a critical role in the treatment of both Gram‐negative and Gram‐positive bacterial infections. However, antibiotic resistance has severely compromised the efficacy of aminoglycosides. A leading cause of aminoglycoside resistance is mediated by bacterial enzymes that inactivate these drugs via chemical modification. Aminoglycoside nucleotidyltransferase‐6 (ANT(6)) enzymes inactivate streptomycin by transferring an adenyl group from ATP to position 6 on the antibiotic. Despite the clinical significance of this activity, ANT(6) enzymes remain relativ

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Martí‐Solans, Josep, Aina Børve, Line Vevle, Andreas Hejnol, and Timothy Lynagh. "Invertebrate Bile Acid‐Sensitive Ion Channels and Their Emergence in Bilateria." FASEB Journal 39, no. 8 (2025). https://doi.org/10.1096/fj.202403216r.

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ABSTRACTThe broad Degenerin/epithelial sodium channel (DEG/ENaC) family includes a subfamily of bile acid‐sensing ion channels (BASICs). While their biophysical properties are extensively studied in mammals, the presence and function of BASICs in invertebrates remain largely unexplored. Here, we present the first functional evidence of invertebrate BASICs, revealing conserved features and evolutionary adaptations across bilaterian species. Using electrophysiological and pharmacological approaches, we show that invertebrate BASICs exhibit species‐specific bile acid sensitivity profiles and diff

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Bai, X., and Q. I. N. G. Wang. "Molecular mechanism for the interaction of MOG1 with the intracellular Loop II of cardiac sodium channel Nav1.5 and its role in Brugada syndrome." Europace 26, Supplement_1 (2024). http://dx.doi.org/10.1093/europace/euae102.632.

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Abstract Background SCN5A encodes the cardiac sodium channel a-subunit Nav1.5 with an essential role in generation and conduction of cardiac action potential. Mutations in SCN5A cause Brugada syndrome (BrS) and long QT syndrome (LQTS). The function of Nav1.5, including its cell membrane trafficking and clustering in caveolae, is regulated by MOG1. We recently showed that gene therapy with AAV9-MOG1 reversed disease phenotypes of BrS, dilated cardiomyopathy, cardiac conduction disease and sick sinus syndrome associated with SCN5A mutations. MOG1 is a small chaperon that interacts with multiple

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Wei, Ruiping, Xiaoxiao Zhang, Xiaoying Wang, et al. "PDCD4 restricts PRRSV replication in an eIF4A-dependent manner and is antagonized by the viral nonstructural protein 9." Journal of Virology, April 2024. http://dx.doi.org/10.1128/jvi.00060-24.

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ABSTRACT As obligate parasites, viruses have evolved multiple strategies to evade the host immune defense. Manipulation of the host proteasome system to degrade specific detrimental factors is a common viral countermeasure. To identify host proteins targeted for proteasomal degradation by porcine reproductive and respiratory syndrome virus (PRRSV), we conducted a quantitative proteomics screen of PRRSV-infected Marc-145 cells under the treatment with proteasome inhibitor MG132. The data revealed that the expression levels of programmed cell death 4 (PDCD4) were strongly downregulated by PRRSV

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Rong, Youjun, Xinle Wang, Qin Na, et al. "Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes." BMC Genomics 25, no. 1 (2024). http://dx.doi.org/10.1186/s12864-024-10543-4.

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Abstract Background The cashmere goat industry is one of the main pillars of animal husbandry in Inner Mongolia Autonomous Region, and plays an irreplaceable role in local economic development. With the change in feeding methods and environment, the cashmere produced by Inner Mongolia cashmere goats shows a tendency of coarser, and the cashmere yield can not meet the consumption demand of people. However, the genetic basis behind these changes is not fully understood. We measured cashmere traits, including cashmere yield (CY), cashmere diameter (CD), cashmere thickness (CT), and fleece length

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