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219 results

  1. Noonan Syndrome with Multiple Lentigines - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1383
    ... David FS, Barford D, Neel BG. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J Biol Chem. 2006; 281 :6785–92. [ ...
  2. Childhood Cancer Genomics (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK374260
    ... prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood 124 (10): 1655-8, 2014. [ PubMed : 24982505 ] Durham BH, Lopez Rodrigo E, Picarsic J, et al.: Activating mutations in CSF1R and additional receptor tyrosine kinases in ...
  3. Langerhans Cell Histiocytosis Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65799
    ... prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. Blood 124 (10): 1655-8, 2014. [ PubMed : 24982505 ] Durham BH, Lopez Rodrigo E, Picarsic J, et al.: Activating mutations in CSF1R and additional receptor tyrosine kinases in ...
  4. RAG1 gene 
    https://medlineplus.gov/genetics/gene/rag1
    ... IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE ... Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn ...
  5. RAG2 gene 
    https://medlineplus.gov/genetics/gene/rag2
    ... IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE ... Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn ...
  6. STAT3 gene 
    https://medlineplus.gov/genetics/gene/stat3
    ... hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3. Blood. 2015 Jan 22;125(4): ... S, Stojkovic O, Metin A, Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause ...
  7. MAP2K1 gene 
    https://medlineplus.gov/genetics/gene/map2k1
    ... EW, Siegel RM, Marini JC, Bhattacharyya T. Somatic activating mutations in MAP2K1 cause melorheostosis. Nat Commun. 2018 Apr ...
  8. KIT gene 
    https://medlineplus.gov/genetics/gene/kit
    ... J, Schiffmann S, Hirota S, Vanderwinden JM. Germline-activating mutation in the kinase domain of KIT gene in ... PubMed Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth ...
  9. RASA1 gene 
    https://medlineplus.gov/genetics/gene/rasa1
    ... E, Gejman PV, Martin GA, McCormick F. Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours. Nat Genet. ...
  10. PDGFRB-associated chronic eosinophilic leukemia 
    https://medlineplus.gov/...-associated-chronic-eosinophilic-leukemia
    ... protein that plays a role in turning on (activating) signaling pathways that control many cell processes, including ... PDGFRB fusion gene variant (also known as a mutation) occurs in cells that develop into blood cells, ...
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