Results 91 to 100 of about 1,568 (176)

Glycogen storage disease type IV : A rare cause for neuromuscular disorders or often missed?

, 2018
Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two patients with hypotonia and delayed development
Dooijes, Dennis, Gepke Visser, Christoph G. Korenke, Schene, Imre F., Dennis Dooijes, Fuchs, Sabine A., Ludo van der Pol, Imre F. Schene, Sabine A. Fuchs, Huidekoper, Hidde H., van der Pol, Ludo, Johannes M. P. J. Breur, Biskup, Saskia, Breur, Johannes M.P.J., Korenke, Christoph G., Hidde H. Huidekoper, Saskia Biskup, Visser, Gepke   +17 more
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Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

Frontiers in Molecular Neuroscience, 2016
Amyotrophic lateral sclerosis (ALS) is a progressive fatal multisystemic neurodegenerative disorder caused by preferential degeneration of upper and lower motor neurons.
Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Marita Munz, Matthis Synofzik, Matthis Synofzik, Ludger Schöls, Ludger Schöls, Thomas Gasser, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Johannes Prudlo, Saskia Biskup, Saskia Biskup   +15 more
doaj   +1 more source

Treatment of pregnant spiny mice at mid gestation with a synthetic glucocorticoid has sex-dependent effects on placental glycogen stores

, 2013
Introduction: Elevated maternal glucocorticoids during human pregnancy suppress fetal growth, more so if the fetus is male. The synthetic glucocorticoid dexamethasone (DEX) is known to affect placental glucose transport, but whether this also affects ...
Moritz, K. M., Dickinson, H., Walker, D. W., O'Connell, B. A.   +3 more
core   +1 more source

Moderate nitrogen with medium planting density enhances sweet potato storage root growth via hormone signaling and carbon metabolism: A multi-omics perspective

Industrial Crops and Products
Optimizing nitrogen (N) and planting density is essential for sustainable sweet potato production, but the molecular mechanisms underlying their combined effects remain unclear.
Jinyang Zhao, Muhammad Shahid, Yujie Li, Luqman Khan, Chengcheng Si   +4 more
doaj   +1 more source

Biological Network Analysis of Genes and Non-coding RNAs in Polycystic Ovary Syndrome

Cyprus Journal of Medical Sciences
BACKGROUND/AIMS: Polycystic ovary syndrome (PCOS) is a neuroendocrine and metabolic disorder. This study aimed to explore interactions among differentially expressed genes (DEGs) and Food and Drug Administration (FDA)-approved drugs relevant to PCOS ...
Bita Ostad Hasanzadeh, Parham Ostad Hasanzadeh, Pınar Tulay   +2 more
doaj   +1 more source

Murrumbidgee River at Johnson's Corner, near Gundagai, New South Wales [picture] /

, 1887
Part of the collection: Gundagai photograph collection, 1887-1927.; Title devised from acquisitions documentation.; Also available in electronic version via the Internet at: http://nla.gov.au/nla.pic-an8526479-1 ...
Gabriel, Charles Louis, 1857-1927.
core  

PX-478 induces apoptosis in acute myeloid leukemia under hypoxia by inhibiting the PI3K/AKT/mTOR pathway through downregulation of GBE1

Biochemical Pharmacology
Acute myeloid leukemia (AML) is a highly heterogeneous hematologic malignancy characterized by limited therapeutic options and a pronounced tendency for relapse. PX-478, a novel inhibitor of hypoxia-inducible factor 1-alpha (HIF-1α), has demonstrated antitumor activity across various cancer models, but its specific role in AML remains unexplored.
Wenjing Liu, Chunhui Dou, Ce Zhang, Ping Chen, Shu Zhang, Renxiang Wang, Qing Han, Hongyu Zhao, Daqi Li   +8 more
openaire   +2 more sources

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

, 2016
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness.
Gitiaux, C., Barnerias, C., Oldfors, Anders,, Carlier, R. Y., Romero, N. B., Oldfors Hedberg, Carola,, Benezit, A., Quijano-Roy, S., Malfatti, E.   +8 more
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Prenatal diagnosis of glycogen storage disease type IV

, 2006
Background Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the glycogen branching enzyme (GBE). Prenatal diagnosis has occasionally been performed by the measurement
Grigoriadou, Maria, Besharat, Isaam, Petersen, Michael B., Karadimas, Charalampos, Konstantinidou, Anastasia, Konstantina, Akman, H. Orhan, Kokotas, Haris, Patsouris, Efstratios, Thaker, Harshwardhan M., Anninos, Hector, Gyftodimou, Yolanda, Kaplan, Jeffrey B., Hatzikonstantinou, Fotopoulos, Spyridon, DiMauro, Salvatore   +15 more
core  

Whole-genome sequencing of copy number variation analysis in Ethiopian cattle reveals adaptations to diverse environments

BMC Genomics
Background Genomic structural variations (GSVs), notably copy number variations (CNVs), significantly shape genetic diversity and facilitate adaptation in cattle populations.
Wondossen Ayalew, Wu Xiaoyun, Getinet Mekuriaw Tarekegn, Tesfaye Sisay Tessema, Min Chu, Chunnian Liang, Rakan Naboulsi, Renaud Van Damme, Erik Bongcam-Rudloff, Yan Ping   +9 more
doaj   +1 more source