Relevant bibliographies by topics / D4Z4 ROLE

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Academic literature on the topic 'D4Z4 ROLE'

Author: Grafiati
Published: 9 March 2023
Last updated: 19 July 2025

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Journal articles on the topic "D4Z4 ROLE"

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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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2

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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3

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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4

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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7

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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10

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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Dissertations / Theses on the topic "D4Z4 ROLE"

1

Yip, Darren J. "Examining the repressive nature of D4Z4 repeats and their role in the pathogenesis of facioscapulohumeral muscular dystrophy." Thesis, University of Ottawa (Canada), 2002. http://hdl.handle.net/10393/6428.

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Molecular analysis of Facioscapulohumeral Muscular Dystrophy (FSHD) patients has demonstrated that the disorder is associated with deletions of multiple copies of a subtelomeric 3.3 kb unit termed D4Z4, which lie at 4q35. Sequence analysis of the D4Z4 repeat has failed to identify a functional transcript; thus, it has been postulated that FSHD results from position effects on a neighboring gene(s). The purpose of our investigation was to determine the function that these repeats may hold in the pathogenesis of FSHD by evaluating their regulatory effect on reporter gene expression. To address t
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2

NAPOLI, FLORIANA MARIA. "Il Registro Nazionale Italiano per la Distrofia Muscolare Facioscapolo-omerale: uno strumento per la diagnosi e la prognosi avanzate nelle malattie neuromuscolari." Doctoral thesis, Università degli studi di Modena e Reggio Emilia, 2021. http://hdl.handle.net/11380/1256058.

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La distrofia muscolare Facioscapolo-omerale (FSHD) è la terza miopatia muscolare più comune con una prevalenza di 1 su 20.000. Finora la FSHD è stata considerata una malattia autosomica dominante, con penetranza incompleta. Il fenotipo classico della FSHD è caratterizzato dall'esordio nella prima o seconda decade di vita, progressiva debolezza e atrofia dei muscoli facciali, del cingolo scapolare e pettorale, spesso con asimmetria. La malattia è associata (95%) ad un numero ridotto (≤10 Unità) di ripetizioni in tandem (D4Z4) nella regione subtelomerica del cromosoma 4q35. Tuttavia, studi genot
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3

Ng, Natasha Hui Jin. "The role of glucose-6-phosphatase catalytic domain in glucose homeostasis." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:1e5fc469-d474-45e8-9a6b-6b56d1cd3b77.

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Over the past decade, there has been unprecedented increase in the number of genetic loci associating with type 2 diabetes (T2D) risk and related glycemic traits, thanks to advances in sequencing technologies and access to large sample sizes. Identification of associated genetic variants across the frequency spectrum can provide valuable insight into disease pathophysiology. However, the translation into biological insights has been slow often due to uncertainties over the underlying effector transcripts. G6PC2/ABCB11 is one locus characterised by common non-coding variants that are strongly a
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Books on the topic "D4Z4 ROLE"

1

Diane, Elson, ed. Male bias in the development process. Manchester University Press, 1991.

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2

Revisiting Gender Training : The Making And Remaking Of Gender Knowledge: A Global Sourcebook. Kit Publishers Oxfam Publishing, 2007.

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Journal articles
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