Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance ...

Cystic fibrosis (CF) is a rare autosomal recessive disorder that affects numerous systems of the body. It is a complicated disease that differs from person to person. An autosomal recessive disorder ...

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This disadvantage is greatest for carriers of a recessive gene for intellectual ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This disadvantage is greatest for carriers of a recessive gene for intellectual ...

Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...

PKD is mainly caused by mutations in the PKD1 and PKD2 genes, affecting polycystin proteins. Disrupted signaling pathways, like cAMP and vasopressin, are major drivers of cyst growth. Tolvaptan is ...

Unknown etiology is commonly encountered in the kidney pre-transplant routine program. A screening program was performed to detect patients and study recipients that meet the following features: ...