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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/2003/volume_12
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/2003/volume_12/issue_14/m/print http://hub.abes.fr/oup/periodical/hmg/2003/volume_12/issue_14/m/web
Date Copyrighted	2003
issue	14
is Is Part Of of	Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly Association and linkage analyses of RGS4 polymorphisms in schizophrenia Cell cycle-dependent translation of p27 involves a responsive element in its 5′-UTR that overlaps with a uORF Association of 5′ estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders The CDY-related gene family: coordinated evolution in copy number, expression profile and protein sequence Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells Dimerization of SOX9 is required for chondrogenesis, but not for sex determination Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve 82-FIP, a novel FMRP (Fragile X Mental Retardation Protein) interacting protein, shows a cell cycle-dependent intracellular localization ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

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