Boerjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling ...of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Previously, the gene associated with BFLS was localized to 17 Mb in Xq26-q27. We have reduced this interval to roughly 9 Mb containing more than 62 genes. Among these, a novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS. Transient transfection studies with PHF6 tagged with green fluorescent protein (GFP) showed diffuse nuclear staining with prominent nucleolar accumulation. Such localization, and the presence of two PHD-like zinc fingers, is suggestive of a role for PHF6 in transcription.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Gamma ray constraints on the Galactic supernova rate Hartmann, D.; The, L.-S.; Clayton, D. D. ...
Astronomy & astrophysics. Supplement Series (Print),
01/1993, Letnik:
97, Številka:
1
Journal Article, Conference Proceeding
Recenzirano
Most Galactic optical supernovae are hidden due to severe extinction in the disk, but could be detectable through their gamma-ray afterglow. Ti-44 is among the potentially detectable isotopes in ...supernova ejecta. HEAO 3 and SMM sky surveys have not detected gamma-ray lines from the decay of Ti-44, thus constraining SN rates and nucleosynthesis. We perform Monte Carlo simulations of the gamma-ray signatures of SN occurring during the last millenium to interpret the gamma-ray paucity.
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