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58 results
  1. HDAC8 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hdac8
    ... The identified variant leads to a version of histone deacetylase 8 that is missing a segment. The abnormally short protein probably alters gene regulation during development, which causes the various health problems described in this family. The condition in this family has been described ...
  2. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... egfr</url></topic><topic ><title >EGLN1: egl-9 family hypoxia inducible factor 1</title><url >https://medlineplus.gov/genetics/gene/egln1</url></topic><topic ><title >EHMT1: euchromatic histone lysine methyltransferase 1</title><url >https://medlineplus.gov/ ...
  3. Noonan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1124
    ... interaction between the DH and REM domains. Normal gene product . ... factor (GEF) for the RAC family small G proteins (RAC-GEF). SOS1 has two ...
  4. BAP1 Tumor Predisposition Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK390611
    ... OR, Testa JR. Germline BAP1 mutation in a family with high incidence of multiple primary ... B. The BAP1/ASXL2 histone H2A deubiquitinase complex regulates cell proliferation and is ...
  5. Childhood Brain Stem Glioma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65812
    ... have been reported for DIPG, including the following: Histone H3 genes: Approximately 80% of DIPG tumors have a mutation ... commonly mutated in DIPG tumors, particularly those with histone H3 gene mutations.[ 6 - 9 , 15 ] Aneuploidy is commonly observed ...
  6. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... group of genes called the ATP-binding cassette family; genes in this family provide instructions for making proteins ... a member of the aldehyde dehydrogenase (ALDH) gene family. Genes in this family provide instructions for producing enzymes ...
  7. Childhood Astrocytomas Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65944
    ... with recurring mutations at specific amino acids in histone genes, and together these account for approximately one-half ... high-grade glioma patients whose tumors lack both histone mutations and IDH1 ... rates of gene amplifications than other pediatric high-grade glioma subtypes. ...
  8. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK169222
    ... Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 463 (7279): 360-3, 2010. [ PMC free ... was identified in exon 16 of the MET gene in two large North American HPRC families. Affected members of the two families shared the ...
  9. Hereditary Dystonia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1155
    ... FL, Kurian MA, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. ... J. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, ... in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat ...
  10. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant: MedlinePlus Genetics 
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant
    ... Black G. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker ... the prognosis of a genetic condition? How can gene variants affect health and ... seems to run in my family? What are the different ways a genetic condition ...
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