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Results 1 - 10 of 14 for Abnormal cell morphology
  1. SLC4A1-associated distal renal tubular acidosis 
    ... abnormalities, although not everyone with this form has abnormal blood cells. The prevalence of SLC4A1-associated distal ... red blood cells are unstable; breakdown of these abnormal red blood cells may lead to hemolytic anemia. ...
    https://medlineplus.gov/...-associated-distal-renal-tubular-acidosis - Genetics
  2. Liebenberg syndrome 
    Liebenberg syndrome is a condition that involves abnormal development of the arms, resulting in characteristic arm malformations that can vary in severity. In people with this condition, bones and other tissues ...
    https://medlineplus.gov/genetics/condition/liebenberg-syndrome - Genetics
  3. 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
  4. 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
  5. 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
  6. Deafness-dystonia-optic neuronopathy syndrome 
    ... that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  7. Hereditary paraganglioma-pheochromocytoma 
    ... triggered in normal oxygen conditions, which lead to abnormal cell growth and tumor formation. SDHA SDHAF2 SDHB ... respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov;201(3): ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  8. 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
  9. 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
  10. 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
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