1,721,075 research outputs found
24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease
No full text
Mapping of the major psoriasis-susceptibility locus (PSORS1) in a 70-Kb interval around the corneodesmosin gene (CDSN)
No full textNumerous putative susceptibility loci have been described for psoriasis. Among the loci confirmed in the literature,
PSORS1 (the major histocompatibility complex at 6p21.3) has the strongest effect. Recent studies have highlighted
a 200-kb candidate region. However, this region has not been well delimited, mainly because of the strong linkage
equilibrium among the associated alleles. To finely map PSORS1, we set up a study using 17 polymorphic markers
in a 525-kb interval around the human leucocyte antigen C locus (HLA-C). The results uncovered five loci with
alleles strongly associated with psoriasis (Sidak-corrected P [Pc] values from 1.8 # 1057 to .003), all structured in
a psoriasis-susceptibility haplotype (PSH). Subsequent analysis of extended haplotypes showed that the PSH was
not only present on the traditional psoriasis-susceptibility extended haplotypes (HLA-Cw6-B57, HLA-Cw6-B37,
and HLA-Cw6-B13) but also on a haplotype of Sardinian origin (HLA-Cw7-B58) found to be associated with
psoriasis (P p .0009) because of an ancestral recombination with one of the susceptibility haplotypes carrying the c
HLA-Cw6 allele. Comparisons of the regions identical by descent among associated and nonassociated haplotypes
highlighted a minimum region of 70 kb not recombinant with PSORS1, around the corneodesmosin (CDSN) gene
Fine mapping of psoriasis-susceptibility locus PSORS1 to a 70 KB interval telomeric to HLA-C
No full text
ALTERED STRESS GRANULE ASSEMBLY IN CULTURED FIBROBLASTS FROM ALS PATIENTS CARRYING A TARDBP MUTATION
No full text
Dilated lateral ventricles and micrognathia by ultrasound exsamination in fetus with mosaic trisomy 9
No full textDNA alteration induced by ultraviolet light in human metaphase chromosomes substituted with 5′-bromodeoxy uridine: monitoring by monoclonal antibodies to double-stranded and single stranded DNA
No full textFixed human metaphase chromosomes, whose DNA had been substituted with 5'-bromodeoxyuridine (BrdUrd) for two rounds of replication (TB/BB) or for one round in BrdUrd followed by another round in thymidine (TT/BT), were treated with ultraviolet light (UV), in the presence or in the absence of 33258 Hoechst, to produce sister chromatid differentiation (SCD). Giemsa staining was compared with staining with monoclonal antibodies to double-stranded or single-stranded DNA. We confirmed that UV acts by debrominating BrdUrd-stubstituted DNA but showed that debromination alone cannot explain all our findings. We postulated that UV-induced protein-protein cross-linking, occurring to a different extent in differently BrdUrd-substituted chromatids, may also be invoked in explaining our data. Lastly, the different behaviour of unifilarly substituted TB as opposed to BT chromatids in UV-treated chromosomes, allowed us to hypothesize that such chromatids may differ depending on whether or not newly synthesized DNA is formed on a BrdUrd-containing stran
- …
