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Results 1 - 10 of 13 for actin deficiency
  1. Muscle Disorders (National Library of Medicine)  
    Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle ...
    https://medlineplus.gov/muscledisorders.html - Health Topics
  2. DOCK8 immunodeficiency syndrome 
    ... MH, Geha RS, Renner ED, Orange JS. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2013 Mar;131(3): ...
    https://medlineplus.gov/.../dock8-immunodeficiency-syndrome - Genetics
  3. WAS gene 
    ... the body from infection, this signaling allows the actin cytoskeleton to establish the ... immune system function (immune deficiency) and a reduced ability to form blood clots ...
    https://medlineplus.gov/genetics/gene/was - Genetics
  4. Wiskott-Aldrich syndrome 
    ... from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that ... In white blood cells, this signaling allows the actin cytoskeleton to establish interactions between cells and the ...
    https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome - Genetics
  5. X-linked thrombocytopenia 
    ... from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that ... the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and ...
    https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia - Genetics
  6. Lowe syndrome 
    ... is also involved in the regulation of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  7. TYROBP gene 
    ... demyelinating CNS disorders with abnormalities in pathways of actin bundling and immune response. J Mol Med (Berl). ... Haltia M, Konttinen YT, Peltonen L. DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. ...
    https://medlineplus.gov/genetics/gene/tyrobp - Genetics
  8. SMARCB1 gene 
    ... of SMARCB1 PubMed SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; ...
    https://medlineplus.gov/genetics/gene/smarcb1 - Genetics
  9. SMARCA4 gene 
    ... of SMARCA4 PubMed SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 4; ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  10. Centronuclear myopathy 
    ... produced from the DNM2 gene also regulates the actin cytoskeleton, which makes up the muscle fiber's ... Beggs AH. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
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