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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Cystic fibrosis transmembrane conductance regulator. Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [5][6] Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis). [7]
Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was the American physician and researcher who first identified and named cystic fibrosis.During her almost thirty year tenure at Babies Hospital of Columbia-Presbyterian Medical Center (now Morgan Stanley Children's Hospital), Andersen not only identified CF and its inheritance through a recessive gene, she was also at the forefront of ...
Cystic fibrosis (CF) is an autosomal recessive and monogenetic disorder. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. [3] The CFTR protein (Figure 1) serves to move chloride ions to the surface of cells to ensure proper hydration. When this protein becomes dysfunctional, the chloride ions are ...
Distal intestinal obstruction syndrome (DIOS) involves obstruction of the distal part of the small intestines by thickened intestinal content and occurs in about 20% of mainly adult individuals with cystic fibrosis. [1] DIOS was previously known as meconium ileus equivalent, a name which highlights its similarity to the intestinal obstruction ...
Doctoral advisor. James Cross. Francis Collins's voice. Francis Collins speaks on the development of the COVID-19 vaccine. Recorded September 9, 2020. Francis Sellers Collins ForMemRS (born April 14, 1950) is an American physician-scientist who discovered the genes associated with a number of diseases and led the Human Genome Project.
Pulmonary fibrosis. Pulmonary fibrosis is a condition in which the lungs become scarred over time. [1] Symptoms include shortness of breath, a dry cough, feeling tired, weight loss, and nail clubbing. [1] Complications may include pulmonary hypertension, respiratory failure, pneumothorax, and lung cancer. [2]
Osteitis fibrosa cystica (/ ˌ ɒ s t i ˈ aɪ t ɪ s f aɪ ˈ b r oʊ s ə ˈ s ɪ s t ɪ k ə / OSS-tee-EYE-tis fy-BROH-sə SIS-tik-ə) is a skeletal disorder resulting in a loss of bone mass, a weakening of the bones as their calcified supporting structures are replaced with fibrous tissue (peritrabecular fibrosis), and the formation of cyst-like brown tumors in and around the bone.