Results 61 to 70 of about 55,907 (261)

Molecular And Epidemiological Characterization Of SMN Genes In Cuban Patients With Spinal Muscular Atrophy

Revista Cubana de Investigaciones Biomédicas, 2019
Spinal Muscular Atrophy (AME) is a neuromuscular disease of autosomal recessive inheritance with variable expressivity, characterized by degeneration and loss of the anterior horn neurons of the spinal cord and brainstem, resulting in progressive ...
Fabián Lombillo, Mariana Pita Rodríguez   +1 more
doaj  

Coordination of Cyanobacterial Nitrate Assimilation and Photosynthesis by a Novel PsbO‐Interacting Protein PirN

Advanced Science, EarlyView.
PirN was identified as a previously uncharacterized PsbO‐interacting protein specifically induced in nitrate‐grown cyanobacteria. Loss of PirN leads to coordinated downregulation of PsbO and the nitrate reductase NarB, causing decreased PSII activity and impaired growth under nitrate conditions. Complementation with either PsbO or NarB largely restores
Chengcheng Huang, Zhen Xiao, Haitao Ge, Gaojie Wang, Jinghui Dong, Yan Wang, Hang Yang, Xing Wang, Hui Gao, Zhongshu Wang, Huanling Yang, Yuanya Zhang, Xiahe Huang, Wu Xu, Weimin Ma, Wenqiang Yang, Yingchun Wang   +16 more
wiley   +1 more source

Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells

Frontiers in Pediatrics, 2017
BackgroundSpinal muscular atrophy (SMA) is the most common genetic neurological disease leading to infant death. It is caused by loss of survival motor neuron (SMN) 1 gene and subsequent reduction of SMN protein in motor neurons.
Sota Iwatani, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Shinya Tairaku, Akemi Shono, Daisuke Kurokawa, Keiji Yamana, Khin Kyae Mon Thwin, Makiko Yoshida, Masami Mizobuchi, Tsubasa Koda, Kazumichi Fujioka, Mariko Taniguchi-Ikeda, Hideto Yamada, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Noriyuki Nishimura   +17 more
doaj   +1 more source

Fluorescence Correlation Spectroscopy Reveals Survival Motor Neuron Oligomerization but No Active Transport in Motor Axons of a Zebrafish Model for Spinal Muscular Atrophy

Frontiers in Cell and Developmental Biology, 2021
Spinal Muscular Atrophy (SMA) is a progressive neurodegenerative disease affecting lower motor neurons that is caused by a deficiency in ubiquitously expressed Survival Motor Neuron (SMN) protein.
Angela Koh, Menachem Viktor Sarusie, Jürgen Ohmer, Utz Fischer, Christoph Winkler, Thorsten Wohland, Thorsten Wohland   +6 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Scattering and transport properties of tight-binding random networks

, 2013
We study numerically scattering and transport statistical properties of tight-binding random networks characterized by the number of nodes $N$ and the average connectivity $\alpha$.
Alcazar-Lopez, A., Martinez-Mendoza, A. J., Mendez-Bermudez, J. A.   +2 more
core   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

CBP-mediated SMN acetylation modulates Cajal body biogenesis and the cytoplasmic targeting of SMN

Cellular and Molecular Life Sciences, 2017
The survival of motor neuron (SMN) protein plays an essential role in the biogenesis of spliceosomal snRNPs and the molecular assembly of Cajal bodies (CBs). Deletion of or mutations in the SMN1 gene cause spinal muscular atrophy (SMA) with degeneration and loss of motor neurons.
Vanesa Lafarga, Olga Tapia, Sahil Sharma, Rocio Bengoechea, Georg Stoecklin, Miguel Lafarga, Maria T. Berciano   +6 more
openaire   +3 more sources

A detailed redescription of a skeletally immature ‘Redondasaurus’ suggests ontogenetic transformations in the taxon mirror phytosaurian morphological evolution

The Anatomical Record, EarlyView.
Abstract The study of morphological evolution is fundamentally tied to ontogeny, yet studies of these heterochronic processes in the fossil record are rare. Fossils belonging to an ontogenetic series are difficult to assign to an ontogenetic stage due to inconsistent proxies for skeletal ages, challenging to taxonomically assign due to morphological ...
Erika R. Goldsmith, Michelle R. Stocker
wiley   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source