To investigate the functions of specific structural domains of the Notch protein in vivo, a series of deletion mutants have been ectopically expressed under the hsp70 heat shock promoter. Two classes of dominant phenotypes are observed, one suggestive of Notch loss-of-function mutations and the ...
Here we show that proteomic measurements in autosomal dominant AD cerebrospinal fluid (CSF) linked to brain protein coexpression can be used to characterize the evolution of AD pathology over a timescale spanning six decades. SMOC1 and SPON1 proteins associated with Aβ plaques were elevated in ...
using SSR markers and markers specific to the Vrn and Ppd genes. It was established that the Ppd-s line contains a dominant Ppd-D1a allele located on chromosome 2D. This allele is characterized by a large deletion in the gene promoter region. For two other lines (Ppd-m ...
Because germline TP53 mutations are the primary cause of Li–Fraumeni syndrome (LFS), which is a highly cancer-prone autosomal dominant disorder28, we theorized that mutant p53 fitness relates to the time to first tumour formation in patients with LFS. We plotted Kaplan–Meier curves showing the...
Dominant and recessive mutations at the SSN20 locus were previously isolated as extragenic suppressors of mutations in three genes (SNF2, SNF5, and SNF6) that are required in trans to derepress invertase expression. All ssn20 alleles cau... L Neigeborn,JL Celenza,M Carlson - 《Molecular &...
Mol Gen Genet 244: pp. 426-434Tearle R, Tomlinson A, Saint R (1994) The dominant Drop eye mutations of Drosophila melanogaster define two loci implicated in normal eye development. Mol Gen Genet 244: 426-434
Enhanced expression of transforming growth factor-β1 in inflammatory cells, α-smooth muscle actin in stellate cells, and collagen accumulation in experim... Although toxocaral granulomatous hepatitis (TGH) characterized with a dominant-Th2 type immune response is a self-limiting disease, little is...
More recently, individual genes of major effect have been identified by resequencing or array-based methods, but variants at these and other loci are present in no more than 1% to 2% of children with ASD [14]. Some of these genes with major effects have been associated with ASD, ...
To clarify whether Akt or PKCλ/ζ plays the dominant role in activating SREBP-1c, we reconstituted the livers of L-p85DKO mice with constitutively active forms of Akt (Myr-Akt) or PKCλ (CA-PKCλ) using adenovirus-mediated gene transfer, which specifically targets the liver (Taniguchi et...
Genotypes carrying an equal number of iKIR + HLA pairs and aKIR genes represented 20% of the study group. The remaining individuals had either a dominant inhibitory KIR genotype (iKIR + HLA > aKIR) or a dominant activating KIR genotype (iKIR + HLA < aKIR). Genotypes encoding these ...