Familial aplasia or hypoplasia of the patella

Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

The femur is the body's longest and strongest bone spanning the thigh region. Its head articulates with the acetabulum of the hip bone to form the hip joint. A minor indentation on the medial side of the femoral head, called the fovea capitis, serves as the site of attachment for the ligament of the head of the femur. This weak ligament spans the femur and acetabulum and supports the hip joint. The narrowed region below the head is the neck of the femur. The inclination angle between the neck...

The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...

The knee joint is the most complicated joint in the body. It consists of three articulations– two tibiofemoral and one patellofemoral. As is characteristic of synovial joints, the knee joint has a thin articular capsule that partially surrounds this joint cavity. Additionally, several ligaments, muscles, and cartilaginous structures support the movement of the knee.
A total of seven ligaments support the knee joint. The patellar ligament, which is also attached to the quadriceps femoris group...

IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...