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Results 1 - 10 of 648 for I cell disease
  1. HBB gene 
    ... Condition Sickle cell anemia (also called homozygous sickle cell disease or HbSS disease) is the most common form of sickle cell disease. This form is caused by a particular variant ...
    https://medlineplus.gov/genetics/gene/hbb - Genetics
  2. GNPTAB gene 
    ... M, Brem MS, Canfield WM. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are ...
    https://medlineplus.gov/genetics/gene/gnptab - Genetics
  3. RET gene 
    ... Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. Cell. 2016 Oct 6;167(2):355-368.e10. ... Dysfunction of the RET receptor in human cancer. Cell Mol Life Sci. 2004 ... factor for Hirschsprung's disease: a meta-analysis. Pediatr Surg Int. 2015 Aug; ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  4. CDKN2A gene 
    ... He S, Sharpless NE. Senescence in Health and Disease. Cell. 2017 Jun 1;169(6):1000-1011. doi: ... a meta-analysis of GWAS and age-associated diseases. Aging Cell. 2012 Oct;11(5):727-31. doi: 10. ...
    https://medlineplus.gov/genetics/gene/cdkn2a - Genetics
  5. PRKN gene 
    ... Dawson VL, Dawson TM. Parkin-associated Parkinson's disease. Cell Tissue Res. 2004 Oct;318(1):175-84. ...
    https://medlineplus.gov/genetics/gene/prkn - Genetics
  6. CLN5 gene 
    ... to be particularly vulnerable. Widespread loss of nerve cells in CLN5 disease leads to severe signs and symptoms and early ... for these substances to accumulate and cause nerve cell death, the signs and symptoms of CLN5 disease in these individuals occur later in life. More ...
    https://medlineplus.gov/genetics/gene/cln5 - Genetics
  7. ATP7A gene 
    ... Citation on PubMed Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci. 2008 Jan;65(1):89- ... copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr. 2002 Oct;34(5):363- ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
  8. PPT1 gene 
    ... cell materials. Early and widespread loss of nerve cells in CLN1 disease leads to severe signs and symptoms and death ... substances to accumulate in lysosomes and cause nerve cell death, the signs and symptoms of CLN1 disease in these individuals occur later in life. More ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  9. SH2D1A gene 
    ... to the symptomatology of the X linked lymphoproliferative disease. Cell Cycle. 2009 Oct 1;8(19):3086-90. ... JJ, Lenardo MJ. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest. 2009 ...
    https://medlineplus.gov/genetics/gene/sh2d1a - Genetics
  10. CLN8 gene 
    ... involved in this buildup. Widespread loss of nerve cells in CLN8 disease leads to the neurological signs and symptoms and, in the case of the more-severe form, early death. More About This Health Condition ... doi: 10.1002/humu.21012. Citation on PubMed
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
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