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Results 1 - 9 of 9 for Abnormal cell morphology
  1. BSCL2 gene 
    ... in promoting lipid droplet biogenesis and regulating droplet morphology. Mol Biol Cell. 2015 Feb 15;26(4):726-39. doi: ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  2. EDAR gene 
    ... Starting before birth, ectodermal dysplasias result in the abnormal development of the skin, hair, nails, teeth, and ... this condition lead to the production of an abnormal version of the ectodysplasin A receptor. Other mutations ...
    https://medlineplus.gov/genetics/gene/edar - Genetics
  3. TIMM8A gene 
    ... that the lack of this complex leads to abnormal transport of proteins across the intermembrane space, although it is unclear how abnormal protein transport affects the function of the mitochondria ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  4. SMAD4 gene 
    ... interact with other proteins and may result in abnormal TGF-β signaling in many cell types, which ... evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. Am J ... or Free article on PubMed Central
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  5. WAS gene 
    ... cause Wiskott-Aldrich syndrome, a condition characterized by abnormal immune system function (immune deficiency) and a reduced ... and N-WASP regulate actin organization and Golgi morphology. Sci Rep. 2016 May ... The actin cytoskeleton and immune cell function. Dis Markers. 2010;29(3-4):157- ...
    https://medlineplus.gov/genetics/gene/was - Genetics
  6. LBR gene 
    ... Greenberg dysplasia. This severe condition is characterized by abnormal bone formation and is fatal before birth. Research ... are hypolobulated). In addition, the chromatin in affected cells appears coarser than usual when viewed under ... produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet. 2002 ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  7. LETM1 gene 
    ... other nearby genes can cause seizures or other abnormal electrical activity in the brain. More About This ... Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and ... interacts with the AAA-ATPase BCS1L. J Cell Sci. 2008 Aug 1;121(Pt 15):2588- ...
    https://medlineplus.gov/genetics/gene/letm1 - Genetics
  8. BEST1 gene 
    ... of the retinal pigment epithelium. Over time, the abnormal accumulation of this substance can damage the photoreceptors ... flow of chloride ions into or out of cells of the retinal pigment epithelium. It is ... MH. Morphology and functional characteristics in adult vitelliform macular dystrophy. ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  9. SDHD gene 
    ... respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov;201(3):480-6. doi: 10.1002/path.1461. Citation on PubMed Gill AJ. ... HIF-alpha prolyl hydroxylase. Cancer Cell. 2005 Jan;7(1):77-85. doi: 10. ...
    https://medlineplus.gov/genetics/gene/sdhd - Genetics