Whole exome sequence analysis of Peters anomaly.
Milwaukee, United States. In Hum Genet, 2014
Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel.
Cytochrome c biogenesis in mitochondria--Systems III and V.
Oxford, United Kingdom. In Febs J, 2011
Three types of biogenesis system are found or predicted in mitochondria: System I (the cytochrome c maturation system); System III (termed holocytochrome c synthase (HCCS) or heme lyase); and System V.
Microphthalmia with Linear Skin Defects Syndrome
Seattle, United States. In Unknown Journal, 2009
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and detection of either a chromosomal abnormality that results in monosomy for Xp22 or mutation of HCCS, the only gene known to be associated with MLS syndrome.
Recent patents relating to tumor suppressor genes.
Chicago, United States. In Recent Pat Dna Gene Seq, 2006
Some of the patents and patent applications discuss newly discovered tumor suppressor genes, including WW Domain-Containing Oxidoreductase (WWOX), Cancer Associated Ring-1 (CAR-1), Human Cervical Cancer Suppressor 1 (HCCS-1), Src-suppressed C kinase substrate (SSeCKS), ADP-Ribosylation factor-like putative Tumor Suppressor gene 1 (ARTS1), and Deleted in Osteosarcoma (DOS).