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Stay informed about the latest scientific discoveries in rare disease care through our curated collection of Rare Diseases Research Articles. Explore a wealth of information on treatment approaches, emerging healthcare strategies, and scientific breakthroughs. Whether you're a patient, caregiver, or healthcare professional, these articles provide valuable insights to inform your decisions.
Sponsored By- Gene Expressions for Signal Transduction under Acidic Conditions
Although it is now well known that some diseased areas, such as cancer nests, inflammation loci, and infarction areas, are acidified, little is known about cellular signal transduction, gene expressio... Read More
- Adenosine Triphosphate (ATP) Is a Candidate Signaling Molecule in the Mitochondria-to-Nucleus Retrograde Response Pathway
Intracellular communication from the mitochondria to the nucleus is achieved via the retrograde response. In budding yeast, the retrograde response, also known as the RTG pathway, is regulated positiv... Read More
- The Role of Mitogen-Activated Protein Kinase-Activated Protein Kinases (MAPKAPKs) in Inflammation
Mitogen-activated protein kinase (MAPK) pathways are implicated in several cellular processes including proliferation, differentiation, apoptosis, cell survival, cell motility, metabolism, stress resp... Read More
- A Novel Function for the Conserved Glutamate Residue in the Walker B Motif of Replication Factor C
In all domains of life, sliding clamps tether DNA polymerases to DNA to increase the processivity of synthesis. Clamp loaders load clamps onto DNA in a multi-step process that requires ATP binding and... Read More
- Signaling Pathways in Exosomes Biogenesis, Secretion and Fate
Exosomes are small extracellular vesicles (30100 nm) derived from the endosomal system, which have raised considerable interest in the last decade. Several studies have shown that they mediate cell-t... Read More
- Non-Neuronal Functions of the M2 Muscarinic Acetylcholine Receptor
Acetylcholine is an important neurotransmitter whose effects are mediated by two classes of receptors. The nicotinic acetylcholine receptors are ion channels, whereas the muscarinic receptors belong t... Read More
- Trapping DNA Replication Origins from the Human Genome
Synthesis of chromosomal DNA is initiated from multiple origins of replication in higher eukaryotes; however, little is known about these origins structures. We isolated the origin-derived nascent DN... Read More
- High SINE RNA Expression Correlates with Post-Transcriptional Downregulation of BRCA1
Short Interspersed Nuclear Elements (SINEs) are non-autonomous retrotransposons that comprise a large fraction of the human genome. SINEs are demethylated in human disease, but whether SINEs become tr... Read More
- MicroRNAs and Molecular Mechanisms of Neurodegeneration
During the last few years microRNAs (miRNAs) have emerged as key mediators of post-transcriptional and epigenetic regulation of gene expression. MiRNAs targets, identified through gene expression prof... Read More
- Molecular Expression of the Scribble Complex Genes, Dlg, Scrib and Lgl, in Silkworm, Bombyx mori
The Scribble protein complex genes, consisting of lethal giant larvae (Lgl), discs large (Dlg) and scribble (Scrib) genes, are components of an evolutionarily conserved genetic pathway that links the ... Read More
- Altered Ca2+ Homeostasis and Endoplasmic Reticulum Stress in Myotonic Dystrophy Type 1 Muscle Cells
The pathogenesis of Myotonic Dystrophy type 1 (DM1) is linked to unstable CTG repeats in the DMPK gene which induce the mis-splicing to fetal/neonatal isoforms of many transcripts, including those inv... Read More
- RNAi-Mediated Gene Silencing in a Gonad Organ Culture to Study Sex Determination Mechanisms in Sea Turtle
The autosomal Sry-related gene, Sox9, encodes a transcription factor, which performs an important role in testis differentiation in mammals. In several reptiles, Sox9 is differentially expressed in go... Read More
- Signaling Pathways from the Endoplasmic Reticulum and Their Roles in Disease
The endoplasmic reticulum (ER) is an organelle in which newly synthesized secretory and transmembrane proteins are assembled and folded into their correct tertiary structures. However, many of these E... Read More
- Roles of EphA2 in Development and Disease
The Eph family of receptor tyrosine kinases (RTKs) has been implicated in the regulation of many aspects of mammalian development. Recent analyses have revealed that the EphA2 receptor is a key modula... Read More
- Notch1 Activation Up-Regulates Pancreatic and Duodenal Homeobox-1
Transcription factor pancreatic and duodenal homeobox-1 (PDX-1) plays an essential role in pancreatic development, -cell differentiation, maintenance of normal -cell function and tumorigenesis. PDX-... Read More
- Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism
More than fifteen genetic diseases, including Huntingtons disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The ... Read More
- Replication Checkpoint: Tuning and Coordination of Replication Forks in S Phase
Checkpoints monitor critical cell cycle events such as chromosome duplication and segregation. They are highly conserved mechanisms that prevent progression into the next phase of the cell cycle when ... Read More
- siRNA Treatment: A Sword-in-the-Stone for Acute Brain Injuries
Ever since the discovery of small interfering ribonucleic acid (siRNA) a little over a decade ago, it has been highly sought after for its potential as a therapeutic agent for many diseases. In this r... Read More
- Antisense Gene Silencing: Therapy for Neurodegenerative Disorders
Since the first reports that double-stranded RNAs can efficiently silence gene expression in C. elegans, the technology of RNA interference (RNAi) has been intensively exploited as an experimental too... Read More
- Polymorphisms in Fatty Acid Desaturase (FADS) Gene Cluster: Effects on Glycemic Controls Following an Omega-3 Polyunsaturated Fatty Acids (PUFA) Supplementation
Changes in desaturase activity are associated with insulin sensitivity and may be associated with type 2 diabetes mellitus (T2DM). Polymorphisms (SNPs) in the fatty acid desaturase (FADS) gene cluster... Read More