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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.
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.
Bone marrow is a semi-solid tissue found within the spongy (also known as cancellous) portions of bones. [2] In birds and mammals, bone marrow is the primary site of new blood cell production (or haematopoiesis). [3] It is composed of hematopoietic cells, marrow adipose tissue, and supportive stromal cells.
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]
A bone growth factor is a growth factor that stimulates the growth of bone tissue. [1] [2]Known bone growth factors include insulin-like growth factor-1 (IGF-1), insulin-like growth factor-2 (IGF-2), transforming growth factor beta (TGF-β), fibroblast growth factors (FGFs), platelet-derived growth factor (PDGF), parathyroid hormone-related peptide (PTHrP), bone morphogenetic proteins (BMPs ...
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.
Thrombopoietin is a glycoprotein hormone produced by the liver and kidney which regulates the production of platelets. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that bud off large numbers of platelets. [5] Megakaryocytopoiesis is the cellular development process that leads to platelet production.
Beta-barrel proteins are so far found only in outer membranes of gram-negative bacteria, cell walls of gram-positive bacteria, outer membranes of mitochondria and chloroplasts, or can be secreted as pore-forming toxins. All beta-barrel transmembrane proteins have simplest up-and-down topology, which may reflect their common evolutionary origin ...