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Results 1 - 10 of 668 for protein syndrome
  1. X-linked thrombocytopenia 
    ... Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. Int ... LD, Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and ...
    https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia - Genetics
  2. Lowe syndrome 
    ... De Camilli P. A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. ... Lowe M. Structure and function of the Lowe syndrome protein OCRL1. Traffic. 2005 Sep;6(9):711-9. ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  3. Werner syndrome 
    ... Bohr VA. Pathways and functions of the Werner syndrome protein. Mech Ageing Dev. 2005 Jan;126(1):79- ... JP, von Kobbe C. Role for the Werner syndrome protein in the promotion of tumor cell growth. Mech ...
    https://medlineplus.gov/genetics/condition/werner-syndrome - Genetics
  4. Vici syndrome 
    ... H, Dionisi-Vici C, Carsetti R. The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy ... Feng D, Hu J, Zhang H. The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  5. Renpenning syndrome 
    ... the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. J Biol Chem. 2010 Jun 18;285(25):19391-401. doi: 10.1074/jbc.M109.084525. Epub 2010 Apr 21. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  6. Costello syndrome 
    ... Lin AE. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. Genet Med. ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
  7. Cohen syndrome 
    ... gene (also called the COH1 gene) cause Cohen syndrome. The protein produced from this gene is a part of ... T, Horn D, Haucke V, Hennies HC. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
  8. Adams-Oliver syndrome 
    ... to the signs and symptoms of Adams-Oliver syndrome.The proteins produced from the ARHGAP31 and DOCK6 genes are ... malformations, and other features characteristic of Adams-Oliver syndrome.The proteins produced from the NOTCH1, DLL4, and RBPJ genes ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  9. Aarskog-Scott syndrome 
    ... T, Buccione R, Genot E. The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling ...
    https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome - Genetics
  10. Bloom syndrome 
    ... analyses of disease-causing missense mutations in Bloom syndrome protein. Nucleic Acids Res. 2007;35(18):6297-310. doi: 10.1093/nar/gkm536. Epub 2007 Sep 18. Citation on PubMed or Free article on ... features of Bloom syndrome and function of the causative gene, BLM helicase. ...
    https://medlineplus.gov/genetics/condition/bloom-syndrome - Genetics
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