Results 81 to 90 of about 10,068 (192)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Diabetic polyneuropathy, sensory neurons, nuclear structure and spliceosome alterations: a role for CWC22

Disease Models & Mechanisms, 2017
Unique deficits in the function of adult sensory neurons as part of their early neurodegeneration might account for progressive polyneuropathy during chronic diabetes mellitus.
Masaki Kobayashi, Ambika Chandrasekhar, Chu Cheng, Jose A. Martinez, Hilarie Ng, Cristiane de la Hoz, Douglas W. Zochodne   +6 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage [PDF]

, 2017
Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of infant mortality. Homozygous loss of the gene survival of motor neuron 1 (SMN1) causes the selective degeneration of lower motor neurons and ...
Allaire, N., Bennett, C. F., Carulli, J. P., Chiao, E., Cullen, P., Fleet, C., Gupta, S. V., Hurt, J. A., Jangi, M., Krainer, A. R., Mekhoubad, S., Rigo, F., Staropoli, J. F.   +12 more
core   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Resistance‐exercise‐induced stress intervenes in TGF‐β signaling by cooperatively downregulating nuclear αB‐crystallin and SMAD4 in human skeletal muscle fibers

The FEBS Journal, EarlyView.
Alpha‐crystallin B chain (CRYAB) has been reported to stabilize mothers against decapentaplegic homolog 4 (SMAD4) in transforming growth factor‐β (TGF‐β) signaling, enabling target gene transcription. We show nuclear CRYAB–SMAD4 interaction for the first time in human skeletal muscle fibers and its regulation by exercise.
Kirill Schaaf, Cassandra Duda, Tihomir Kostov, Patrick Diel, Käthe Bersiner, Wilhelm Bloch, Sebastian Gehlert, Daniel Jacko   +7 more
wiley   +1 more source

Identification of pathways of degeneration and protection in motor neuron diseases [PDF]

, 2017
Motor neuron diseases preferentially affect specific neuronal populations with distinct clinical features even if disease-causing genes are expressed in many cell types. In spinal muscular atrophy (SMA), somatic motor neurons are selectively vulnerable
Nichterwitz, Susanne
core   +1 more source

Mechanical stiffness orchestrates distinct regulation of MRTFs and YAP/TAZ transcriptional cofactors in hepatocytes

The FEBS Journal, EarlyView.
MRTFs and YAP/TAZ proteins, or mechanosensitive transcriptional cofactors (MRTcoF), regulate common genes associated with cellular contractility and immune cell infiltration. Their differential regulation in response to stiffness is linked to changes in hepatocyte's aspect ratio. MRTFB does not undergo nuclear translocation under these conditions. This
Brenda Selene Torres‐Ortiz, Daniel Pérez‐Calixto, Jorge Carretero‐Ortega, Aida Gabriela Guzman‐López, Diana Cristina Pinto‐Dueñas, Mariana Hernández‐Juárez, Alejandra Jiménez‐Escobar, Adriana Rodríguez‐Hernández, Beatriz Díaz‐Bello, Nathalia Serna‐Márquez, Miguel Ángel Peña‐Rico, Laura Gómez‐Romero, Francisco Gabriel Vázquez‐Cuevas, Genaro Vázquez‐Victorio   +13 more
wiley   +1 more source

Oligomerization regulates the interaction of Gemin5 with members of the SMN complex and the translation machinery

Cell Death Discovery
RNA-binding proteins are multifunctional molecules impacting on multiple steps of gene regulation. Gemin5 was initially identified as a member of the survival of motor neurons (SMN) complex.
Rosario Francisco-Velilla, Salvador Abellan, Azman Embarc-Buh, Encarnacion Martinez-Salas   +3 more
doaj   +1 more source

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy [PDF]

, 2017
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein.
A Brockington, A Kaplan, A Neve, AH Bhat, AM Blokhuis, Anna A. L. Motyl, B Schrank, B Wirth, C Cifuentes-Diaz, C Fallini, C Fallini, C Fallini, Catherina G. Becker, CC Xu, CL Lorson, D Frey, D Zala, Derek Thomson, DG Nicholls, E Mercuri, E Somers, E Somers, EA Schon, EJ Groen, EJ Groen, Ewout J. N. Groen, FR Jornayvaz, G Acsadi, G Hamilton, G Le Masson, Gregory A. Cox, H Flanagan-Steet, Hannah K. Shorrock, HM Hsieh-Li, J Giacomotto, J Hegedus, J. Robin Highley, JE Taylor, JJ Harris, JM Dale, JM Flanagan, JN Sleigh, K Hasegawa, K See, KC Kanning, KJ Spiller, KK Ling, KK Ling, L Comley, L Kong, Laura C. Graham, LM Murray, LM Murray, M Dimitriadi, M Riessland, M Ripolone, M Westerfield, ML McWhorter, N Miller, N Noel, Nicholas M. Morton, P Verstreken, Paul R. Heath, Penelope J. Boyd, Q Cai, Q Liu, R Martinez-Hernandez, R Tejero, RA Powis, RA Powis, Rachael A. Powis, Roderick N. Carter, S Hosseinibarkooie, S Jang, S Kariya, S Lefebvre, S Massenet, S Saxena, S Saxena, SL Eaton, Sophie R. Thomson, SR Thomson, T Hao le, T Uetsuki, T Voigt, Thomas Becker, Thomas H. Gillingwater, Thomas M. Wishart, TM Wishart, TW Tefera, U Fischer, UR Monani, UR Monani, V Chavan, V Link, V Luzzi, W Rossoll, Wen-Yo Tu, X Chen, Y Morisaki   +99 more
core   +5 more sources