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659 results
  1. Von Hippel-Lindau Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1463
    ... 2002] identified homozygosity for a VHL pathogenic missense variant. Differential Diagnosis Isolated hemangioblastoma, retinal angioma, or clear cell renal cell carcinoma. The clinical sensitivity of molecular ...
  2. BAP1 Tumor Predisposition Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK390611
    ... Kumar et al 2015 , Rai et al 2016 ]. Clear cell renal cell carcinoma (ccRCC). Heterozygous BAP1 germline pathogenic variants are specifically associated with an increased risk for ...
  3. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65842
    ... Information About Clear Cell Sarcoma of the Kidney Clear cell sarcoma of the kidney is not a Wilms tumor variant, but it is an important primary renal tumor ...
  4. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK169222
    ... undergo regular surveillance . Papillary RCCs, particularly type 1 variants, possess specific imaging characteristics that differ from clear cell RCCs. Type 1 papillary renal tumors are generally ...
  5. Hereditary Paraganglioma-Pheochromocytoma Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1548
    ... the GIST tumors [ Boikos et al 2016 ]. Renal clear cell carcinoma is part of the tumor spectrum of hereditary PCC/PGL syndromes, particularly in individuals with pathogenic variants in SDHB and SDHD [ Ricketts et al 2010 ]. ...
  6. IL7R gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/il7r
    ... cell surface but is instead found inside the cell. It is not clear if this alpha chain variant affects the TSLP receptor. Because the IL7R gene ...
  7. Langerhans Cell Histiocytosis Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65799
    ... term LCH cells is used because there are clear morphologic, phenotypic, and gene expression differences between normal Langerhans cells of the epidermis (LCs) and the pathologic variant of the LCH lesions (LCH cells), despite the ...
  8. Beta-propeller protein-associated neurodegeneration: MedlinePlus Genetics 
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration
    ... involved in a process called autophagy, which helps clear unneeded materials from cells, including excess amounts of an iron storage protein called ferritin . Most of the WDR45 gene variants identified in people with BPAN result in the ...
  9. UBE3A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ube3a
    ... the function of ubiquitin protein ligase E3A in cells, these rare variants increase the function of the protein. It is not clear how excess ubiquitin protein ligase E3A activity affects ...
  10. PIGA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/piga
    ... mitochondria, which are the energy-producing centers of cells, although the mechanism is not clear. Researchers are still determining how PIGA gene variants lead to the features of PIGA deficiency. Simpson- ...
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