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Microcephalin (MCPH1) is a gene that is expressed during fetal brain development. Certain mutations in MCPH1 , when homozygous , cause primary microcephaly —a severely diminished brain . [ 5 ] [ 6 ] [ 7 ] Hence, it has been assumed that variants have a role in brain development.
Abnormal spindle-like microcephaly-associated protein, also known as abnormal spindle protein homolog or Asp homolog, is a protein that in humans is encoded by the ASPM gene. [5] ASPM is located on chromosome 1, band q31 (1q31). [6] The ASPM gene contains 28 exons and codes for a 3477 amino-acid-long protein. [6]
Bone morphogenetic proteins (BMPs) are a group of growth factors also known as cytokines and as metabologens. [1] Professor Marshall Urist and Professor Hari Reddi discovered their ability to induce the formation of bone and cartilage, BMPs are now considered to constitute a group of pivotal morphogenetic signals, orchestrating tissue architecture throughout the body.
The protein encoded by this gene is a member of the TGF-β superfamily. Like other members of the bone morphogenetic protein family of proteins, it plays a key role in the transformation of mesenchymal cells into bone and cartilage. It is inhibited by noggin and a similar protein, chordin, which are
Collagen is the most abundant protein in the ECM, and is the most abundant protein in the human body. [17] [18] It accounts for 90% of bone matrix protein content. [19] Collagens are present in the ECM as fibrillar proteins and give structural support to resident cells.
Most bone metastases result in osteolytic lesions, however prostate cancer causes osteoblastic lesions characterised by excess bone formation and high bone density. [44] Prostate cancer releases cytokines such as insulin-like growth factor (IGF), endothelin-1 , bone morphogenetic proteins (BMPs), sclerostin and Wnt proteins that act on local ...
Osteonectin is an acidic extracellular matrix glycoprotein that plays a vital role in bone mineralization, cell-matrix interactions, and collagen binding. Osteonectin also increases the production and activity of matrix metalloproteinases, a function important to invading cancer cells within bone.
Two proteins, bone morphogenetic protein 4(BMP-4) and fibroblast growth factor 2(FGF2) have been seen to influence the amount of differentiation into chondrocytes. [4] Both proteins are known to play a role in embryonic stem cell differentiation into mesodermal cells, through signaling with BMP-4 and as FGF2 acting as a stimulator. From the ...