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Results 1 - 10 of 363 for acta
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  1. ACTA1 gene 
    ... of this condition. More About This Health Condition ACTA ACTS_HUMAN alpha skeletal muscle actin ASMA Tests ... rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta Neuropathol. 2004 Sep;108(3):250-6. doi: ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  2. Nonbullous congenital ichthyosiform erythroderma 
    ... CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis. Acta Derm Venereol. 2017 Jan 4;97(1):102- ... The role of lipoxygenases in epidermis. Biochim Biophys Acta. 2014 Mar;1841(3):390-400. doi: 10. ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  3. X chromosome 
    ... linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016 Jun 1;4(1):56. ... MF. X-chromosome inactivation and human genetic disease. Acta Paediatr Suppl. 2002;91(439):107-12. doi: ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  4. Actin-accumulation myopathy 
    ... H. Fatal congenital myopathy with actin filament deposits. Acta Neuropathol. 1996 Jul;92(1):104-8. doi: ... muscle alpha-actin diseases (actinopathies): pathology and mechanisms. Acta Neuropathol. 2013 Jan;125(1):19-32. doi: ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  5. CLN4 disease 
    ... has PPT1 pathology and exhibit aberrant protein palmitoylation. Acta Neuropathol. 2016 Apr;131(4):621-37. doi: ... of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10. ...
    https://medlineplus.gov/genetics/condition/cln4-disease - Genetics
  6. NPC1 gene 
    ... Lipid and cholesterol trafficking in NPC. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):28-37. ... The NPC1 protein: structure implies function. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):8-13. ...
    https://medlineplus.gov/genetics/gene/npc1 - Genetics
  7. PPT1 gene 
    ... neuronal ceroid lipofuscinosis (infantile CLN1 disease). Biochim Biophys Acta. 2013 Nov;1832(11):1906-9. doi: 10. ... A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2009 Apr;1793(4):697-709. doi: 10. ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  8. Paramyotonia congenita 
    ... in periodic paralysis: a survey of 66 patients. Acta Myol. 2012 Oct;31(2):126-33. Citation ... on PubMed Central Finsterer J. Primary periodic paralyses. Acta Neurol Scand. 2008 Mar;117(3):145-58. ...
    https://medlineplus.gov/genetics/condition/paramyotonia-congenita - Genetics
  9. GM2A gene 
    ... of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. ... as a general glycolipid transport protein. Biochim Biophys Acta. 1998 Jul 31;1393(1):1-18. doi: ...
    https://medlineplus.gov/genetics/gene/gm2a - Genetics
  10. ABCD1 gene 
    ... structure, function and role in disease. Biochim Biophys Acta. 2012 Sep;1822(9):1387-96. doi: 10. ... eukaryotic ABC proteins in lipid transport. Biochim Biophys Acta. 2005 Mar 21;1733(1):29-52. doi: ...
    https://medlineplus.gov/genetics/gene/abcd1 - Genetics
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