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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.
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- Size Polymorphism in Alleles of the Myoglobin Gene from Biomphalaria Mollusks
Introns are common among all eukaryotes, while only a limited number of introns are found in prokaryotes. Globin, globin-like proteins are widely distributed in nature, being found even in prokaryotes... Read More
- Identification of Carbohydrate Metabolism Genes in the Metagenome of a Marine Biofilm Community Shown to Be Dominated by Gammaproteobacteria and Bacteroidetes
Polysaccharides are an important source of organic carbon in the marine environment, degradation of the insoluble, globally abundant cellulose is a major component of the marine carbon cycle. Although... Read More
- Establishment and Molecular Cytogenetic Characterization of a Cell Culture Model of Head and Neck Squamous Cell Carcinoma (HNSCC)
Cytogenetic analysis of head and neck squamous cell carcinoma (HNSCC) established several biomarkers that have been correlated to clinical parameters during the past years. Adequate cell culture model... Read More
- Programming Pluripotent Precursor Cells Derived from Xenopus Embryos to Generate Specific Tissues and Organs
Xenopus embryos provide a rich source of pluripotent cells that can be differentiated into functional organs. Since the molecular principles of vertebrate organogenesis appear to be conserved between ... Read More
- Mechanisms of Ectopic Gene Conversion
Gene conversion (conversion), the unidirectional transfer of DNA sequence information, occurs as a byproduct of recombinational repair of broken or damaged DNA molecules. Whereas excision repair proce... Read More
- Evidence Implicating CCNB1IP1, a RING Domain-Containing Protein Required for Meiotic Crossing Over in Mice, as an E3 SUMO Ligase
The RING domain-containing protein CCNB1IP1 (Cyclin B1 Interacting Protein 1) is a putative ubiquitin E3 ligase that is essential for chiasmata formation, and hence fertility, in mice. Previous studie... Read More
- Genomic and Population-Level Effects of Gene Conversion in Caenorhabditis Paralogs
Interlocus gene conversion, the nonreciprocal exchange of genetic material between genes, is facilitated by high levels of sequence identity between DNA sequences and has the dual effect of homogenizi... Read More
- A Global Expression Switch Marks Pachytene Initiation during Mouse Male Meiosis
Male spermatogenesis is an essential and complex process necessary to gain totipotency and allow a whole new organism to develop upon fertilization. While single-gene based studies have provided insig... Read More
- The Mouse Cohesin-Associated Protein PDS5B Is Expressed in Testicular Cells and Is Associated with the Meiotic Chromosome Axes
During the first meiotic prophase, the cohesin complex is localized to the chromosome axis and contributes to chromosome organization, pairing, synapsis, and recombination. The PDS5 protein, an access... Read More
- Cohesin in Oocytes Tough Enough for Mammalian Meiosis
Sister chromatid cohesion is essential for cell division. During meiosis, it is also required for proper synapsis of pairs of sister chromatids and for chiasma formation and maintenance. Since mammali... Read More
- Synaptonemal Complex Length Variation in Wild-Type Male Mice
Meiosis yields haploid gametes following two successive divisions of a germ cell in the absence of intervening DNA replication. Balanced segregation of homologous chromosomes in Meiosis I is aided by ... Read More
- Initiation of Meiotic Recombination in Mammals
Meiotic recombination is initiated by the induction of programmed DNA double strand breaks (DSBs). DSB repair promotes homologous interactions and pairing and leads to the formation of crossovers (COs... Read More
- Gene Conversion in Human Genetic Disease
Gene conversion is a specific type of homologous recombination that involves the unidirectional transfer of genetic material from a donor sequence to a highly homologous acceptor. We have recently... Read More
- Gene Duplication and Ectopic Gene Conversion in Drosophila
The evolutionary impact of gene duplication events has been a theme of Drosophila genetics dating back to the Morgan School. While considerable attention has been placed on the genetic novelties that ... Read More
- A Reverse Transcriptase-Dependent Mechanism Is Essential for Murine Preimplantation Development
LINE-1 (Long Interspersed Nuclear elements) and HERVs (Human Endogenous Retroviruses) are two families of retrotransposons which together account for about 28% of the human genome. Genes harbored with... Read More
- Protein Folding Absent Selection
Biological proteins are known to fold into specific 3D conformations. However, the fundamental question has remained: Do they fold because they are biological, and evolution has selected sequences whi... Read More
- Comparison of the Fecal Microbiota in Feral and Domestic Goats
Animals have co-evolved with mutualistic microbial communities, known as the microbiota, which are essential for organ development and function. We hypothesize that modern animal husbandry practices e... Read More
- Discriminating Gene Expression Signature of Radiation-Induced Thyroid Tumors after Either External Exposure or Internal Contamination
Both external radiation exposure and internal radionuclide contamination are well known risk factors in the development of thyroid epithelial tumors. The identification of specific molecular markers d... Read More
- Comparative Genomics of Aeschynomene Symbionts: Insights into the Ecological Lifestyle of Nod-Independent Photosynthetic Bradyrhizobia
Tropical aquatic species of the legume genus Aeschynomene are stem- and root-nodulated by bradyrhizobia strains that exhibit atypical features such as photosynthetic capacities or the use of a nod gen... Read More
- Implication of an Aldehyde Dehydrogenase Gene and a Phosphinothricin N-Acetyltransferase Gene in the Diversity of Pseudomonas cichorii Virulence
Pseudomonas cichorii harbors the hrp genes. hrp-mutants lose their virulence on eggplant but not on lettuce. A phosphinothricin N-acetyltransferase gene (pat) is located between hrpL and an aldehyde d... Read More