Abstract：
:The use of the adapted models to decipher patho-physiological mechanisms of human diseases is always a great challenge. This is of particular importance for early-onset myopathies, in which pathological mutations often impact not only on muscle structure and function but also on developmental processes. Mice are currently the main animal model used to study neuromuscular disorders including the early-onset myopathies. However strategies based on simple animal models and on transdisciplinary approaches exploring mechanical muscle cell properties emerge as attractive, non-exclusive alternatives. These new ways provide valuable opportunities to improve our knowledge on how mechanical, biochemical, and genetic/epigenetic cues modulate the formation, organization and function of muscle tissues. Here we provide an overview of how single cell and micro-tissue engineering in parallel to non-mammalian, Drosophila and zebrafish models could contribute to filling gaps in our understanding of pathogenic mechanisms underlying early-onset myopathies. We also discuss their potential impact on designing new diagnostic and therapeutic strategies.
journal_name
Semin Cell Dev Bioljournal_title
Seminars in cell & developmental biologyauthors
Jagla K,Kalman B,Boudou T,Hénon S,Batonnet-Pichon Sdoi
10.1016/j.semcdb.2016.09.012subject
Has Abstractpub_date
2017-04-01 00:00:00pages
171-180eissn
1084-9521issn
1096-3634pii
S1084-9521(16)30303-2journal_volume
64pub_type
杂志文章,评审abstract：:With the arrival of atomic force microscopy (AFM) about thirty years ago, this new imaging tool opened up a new area for the exploration of biological samples, ranging from the tissue and cellular level down to the supramolecular scale. Commercial instruments of this new imaging technique began to appear in the five y...
journal_title：Seminars in cell & developmental biology
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abstract：:α-synuclein and Tau are proteins prone to pathological misfolding and aggregation that are normally found in the presynaptic and axonal compartments of neurons. Misfolding initiates a homo-oligomerization and aggregation cascade culminating in cerebral accumulation of aggregated α-synuclein and Tau in insoluble protei...
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abstract：:Motor neurons differentiate from progenitor cells and cluster as motor nuclei, settling next to the floor plate in the brain stem and spinal cord. Although precise positioning of motor neurons is critical for their functional input and output, the molecular mechanisms that guide motor neurons to their proper positions...
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abstract：:Gene duplication events produce both perfect and imperfect copies of genes. Perfect copies are said to be functionally redundant when knockout of one gene produces no 'scoreable', phenotypic effects. Preserving identical, duplicate copies of genes is problematic as all copies are prone to accumulate neutral mutations ...
journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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abstract：:The developmental processes that give rise to the animal body plan are exceedingly complex. Model systems such as Drosophila melanogaster have yielded profound insight into roles of conserved genes and genetic pathways in development. Drosophila development begins with the formation of sperm and eggs, and proceeds thr...
journal_title：Seminars in cell & developmental biology
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pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
doi：10.1016/j.semcdb.2015.05.008
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
doi：10.1016/j.semcdb.2009.12.014
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
doi：10.1016/j.semcdb.2011.11.003
更新日期：2012-04-01 00:00:00
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
doi：10.1016/j.semcdb.2011.05.005
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
doi：10.1016/j.semcdb.2011.03.003
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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abstract：:As the primary catalyst of homologous recombination (HR) in vertebrates, RAD51 has been extensively studied in the context of repair of double-stranded DNA breaks (DSBs). With recent advances in the understanding of RAD51 function extending beyond DSBs, the importance of RAD51 throughout DNA metabolism has become incr...
journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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abstract：:Acquisition of the pluripotent state coincides with epigenetic reprogramming of the X-chromosome. Female embryonic stem cells are characterized by the presence of two active X-chromosomes, cell differentiation by inactivation of one of the two Xs, and induced pluripotent stem cells by reactivation of the inactivated X...
journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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更新日期：2004-04-01 00:00:00
abstract：:Cell signaling is essential for cells to adequately respond to their environment. One of the most evolutionarily conserved signaling pathways is that of the epidermal growth factor receptor (EGFR). Transmembrane receptors with intracellular tyrosine kinase activity are activated by the binding of their corresponding l...
journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
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更新日期：2019-03-01 00:00:00
abstract：:The formation of ovules is a key step in the plant life cycle which alternates between a diploid and haploid generation, the sporophyte and the gametophyte. The transitions between the two generations in the female occur in the ovule, the site of meiosis, female gametogenesis and double fertilization. The intimate ass...
journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
doi：10.1006/scdb.1997.0214
更新日期：1998-04-01 00:00:00
abstract：:Pollen tubes extend rapidly in an oscillatory manner by the extreme form of polarized growth, tip growth, and provide an exciting system for studying the spatiotemporal control of polarized cell growth. The Rho-family ROP GTPase is a key signaling molecule in this growth control and is periodically activated at the ap...
journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
doi：10.1016/j.semcdb.2011.06.004
更新日期：2011-10-01 00:00:00
abstract：:For over a decade, studies of messenger RNA regulation have revealed an unprecedented level of connectivity between the RNA pool and global gene expression. These connections are underpinned by a vast array of RNA elements that coordinate RNA-protein and RNA-RNA interactions, each directing mRNA fate from transcriptio...
journal_title：Seminars in cell & developmental biology
pub_type： 杂志文章,评审
doi：10.1016/j.semcdb.2020.05.010
更新日期：2020-06-07 00:00:00
