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Hace 4 días · El biólogo Alfonso Martínez Arias defiende en un provocador libro que los genes no definen la singularidad de una persona, con ejemplos como el de Karen Keegan, que tiene dos genomas
Hace 2 días · EDS occurs due to variations of more than 19 genes that are present at birth. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown.
Hace 5 días · Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Dominant” means that a single copy of the mutated gene (from one parent) is enough to cause the disorder.
Hace 5 días · Classically, Kartagener Syndrome is caused by mutations in the gene encoding axonemal dynein intermediate chain (DNAI1), which maps to 9p21-p13. Other linkage studies have mapped the phenotype to 19q and 5p in Arabic families.
Hace 2 días · Haemophagocytic lymphohistiocytosis (HLH) is a syndrome that occurs in patients with severe systemic hyperinflammation. GATA binding protein 2 (GATA2) is a transcription factor and key component in haematopoiesis and stem cell biology. Three patients with HLH, one with Mycobacterium avium infection, one with Epstein–Barr virus (EBV) infection, and one with Mycobacterium kansasii infection ...
Hace 3 días · Cilia play a key role in the regulation of signaling pathways required for embryonic development, including the proper formation of the neural tube, the precursor to the brain and spinal cord. Forward genetic screens were used to generate mouse lines that display neural tube defects (NTD) and secondary phenotypes useful in interrogating function.
Hace 5 días · The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it can be an anterior-retrosternal defect, named Morgagni hernia. Marfan syndrome (MFS) is a rare autosomal dominant inherited condition that affects connective tissue, caused by mutations in fibrillin-1 gene on chromosome 15.
