SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "(L773:1061 4036) srt2:(2000-2004)"

Sökning: (L773:1061 4036) > (2000-2004)

  • Resultat 1-10 av 35
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  • Cámara, Miguel, et al. (författare)
  • Quorum sensing in Vibrio cholerae.
  • 2002
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718.
  • Annan publikation (refereegranskat)
  •  
3.
  • Carpten, JD, et al. (författare)
  • HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
  • 2002
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 32:4, s. 676-680
  • Tidskriftsartikel (refereegranskat)abstract
    • We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. None of these mutations were detected in normal controls, and all were predicted to cause deficient or impaired protein function. HRPT2 is a ubiquitously expressed, evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors.
  •  
4.
  •  
5.
  •  
6.
  • Ding, Hao, et al. (författare)
  • A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling.
  • 2004
  • Ingår i: Nat Genet. - 1061-4036. ; 36:10, s. 1111-6
  • Tidskriftsartikel (refereegranskat)abstract
    • PDGF-C is a member of the platelet-derived growth factor (PDGF) family, which signals through PDGF receptor (PDGFR) alphaalpha and alphabeta dimers. Here we show that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate. This phenotype was less severe than that of Pdgfra(-/-) embryos. Pdgfc(-/-) Pdgfa(-/-) embryos developed a cleft face, subepidermal blistering, deficiency of renal cortex mesenchyme, spina bifida and skeletal and vascular defects. Complete loss of function of both ligands, therefore, phenocopied the loss of PDGFR-alpha function, suggesting that both PDGF-A and PDGF-C signal through PDGFR-alpha to regulate the development of craniofacial structures, the neural tube and mesodermal organs. Our results also show that PDGF-C signaling is a new pathway in palatogenesis, different from, and independent of, those previously implicated.
  •  
7.
  • Ellegren, H (författare)
  • Heterogeneous mutation processes in human microsatellite DNA sequences
  • 2000
  • Ingår i: NATURE GENETICS. - : NATURE AMERICA INC. - 1061-4036. ; 24:4, s. 400-402
  • Tidskriftsartikel (refereegranskat)abstract
    • Although microsatellite polymorphisms are one of the most commonly used tools in genetic analyses(1-3), it remains to be understood how microsatellite DNA has evolved as a ubiquitous and highly abundant class of repetitive sequences in eukaryotic genomes(
  •  
8.
  •  
9.
  •  
10.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 35

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy