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  • Key words Hyperlipoproteinemia  (2)
  • Familial hypercholesterolemia  (1)
  • Karst terrane  (1)
  • Mapping
  • Springer  (4)
  • American Chemical Society
  • Geological Society of America (GSA)
  • Periodicals Archive Online (PAO)
  • 2000-2004  (1)
  • 1995-1999  (3)
  • 1950-1954
  • 1925-1929
  • 2000  (1)
  • 1999  (3)
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  • Springer  (4)
  • American Chemical Society
  • Geological Society of America (GSA)
  • Periodicals Archive Online (PAO)
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  • 2000-2004  (1)
  • 1995-1999  (3)
  • 1950-1954
  • 1925-1929
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  • 2000  (1)
  • 1999  (3)
  • 1
    Digitale Medien
    Digitale Medien
    Springer
    Environmental geology 37 (1999), S. 19-25 
    ISSN: 1432-0495
    Schlagwort(e): Key words Natural potential technique ; Topographic effect ; Karst terrane ; Groundwater recharge
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Geologie und Paläontologie
    Notizen: Abstract  The natural (electrical) potential (NP) method – also known as self-potential, spontaneous potential and streaming potential (SP) – has been used to locate areas of groundwater flow in karst terrane. NP is the naturally occurring voltage at the ground surface resulting from ambient electrical currents within the earth. The measurement of NP can be used to characterize groundwater flow in karst terrane because electrical potential gradients are generated by the horizontal flow of water along fractures or conduits and the vertical infiltration of water into fractures or shafts. NP data from a site on the Mitchell Plain of southern Indiana, USA, revealed that NP data can be decomposed into three components: topographic effect, residual NP and noise. At this site, NP was inversely proportional to elevation, but the correlation varied with time. The topographic correction factor varied from –2.5 to –1.2 mV/m (NP change per unit elevation increase), with an average linear correlation coefficient (R) of 0.95. Because the site slopes toward an adjacent creek that is the local groundwater discharge zone, one possible explanation for this effect is a streaming-potential mechanism generated by groundwater movement toward the creek. The residual NP data revealed three negative anomalies at the survey area. Two of them coincide with sinkholes. A part of the third anomaly is coincident with a small valley, and concentrated infiltration does occur at this elevation in other valleys at the site, as evidenced by the existence of sinkholes. However, the dispersed, low-magnitude nature of the third anomaly does not prove the existence of concentrated groundwater recharge activity.
    Materialart: Digitale Medien
    Standort Signatur Erwartet Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Springer
    Molecular genetics and genomics 261 (1999), S. 184-195 
    ISSN: 1617-4623
    Schlagwort(e): Key words Map-based DNA fingerprinting ; DNA fingerprint linkage block (DFLB) ; Mapping ; Genome scan ; Rice
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie
    Notizen: Abstract Map-based DNA fingerprinting with AFLP markers provides a fast method for scanning the rice genome. Three hundred AFLP markers identified with ten primer combinations were mapped in two rice populations. The genetic maps were aligned and almost full coverage of the rice genome was obtained. The transferability of AFLP markers between indica × japonica and indica × indica crosses was tested. The chromosomes were divided into DNA Fingerprint Linkage Blocks (DFLBs) defined by specific AFLP markers. Using these blocks, the degree of similarity or divergence within specific chromosome regions was calculated for nine varieties. Applications of map-based fingerprinting for biodiversity studies and maker-assisted selection are discussed.
    Materialart: Digitale Medien
    Standort Signatur Erwartet Verfügbarkeit
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  • 3
    ISSN: 1435-232X
    Schlagwort(e): Key words Hyperlipoproteinemia ; Lipoproteins ; LDL receptor ; Familial hypercholesterolemia ; Genetic diagnosis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Heterozygous familial hypercholesterolemia (FH) is a serious disorder causing twice normal low-density lipoprotein (LDL) cholesterol levels early in childhood and very early coronary disease in both men and women. Treatment with multiple medications together with diet can normalize cholesterol levels in many persons with FH and prevent or delay the development of coronary atherosclerosis. Previously published blood cholesterol criteria greatly under-diagnosed new cases of FH among members of known families with FH and over-diagnosed FH among participants of general population screening. Thus, there is a need for accurate and genetically validated criteria for the early diagnosis of heterozygous FH. In the course of investigations of coronary artery disease in Utah, we identified a family whose proband showed elevated plasma levels of LDL cholesterol. To carry out molecular genetic diagnosis of the disease, we screened DNA samples for mutations in all 18 exons and the exon-intron boundaries of the LDL receptor gene (LDLR). Novel point mutations were identified in the proband: a C-to-T transversion at nucleotide position 631, causing substitution of tyrosine for histidine at codon 190 in exon 4 of the LDLR gene. The mutant allele-specific amplification method was used to examine 12 members of the family recruited for the diagnosis. This method helped to unequivocally diagnose 7 individuals as heterozygous for this particular LDLR mutation, while excluding the remaining 5 individuals from carrier status with FH.
    Materialart: Digitale Medien
    Standort Signatur Erwartet Verfügbarkeit
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  • 4
    ISSN: 1435-232X
    Schlagwort(e): Key words Hyperlipoproteinemia ; Lipoproteins ; LDL receptor ; Familial combined hyperlipidemia
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Factors predisposing to the phenotypic features of familial combined hyperlipidemia have not been clearly defined. In the course of investigating familial coronary artery disease in Utah, we identified a three-generation family in which multiple members were affected with type IIa hyperlipoproteinemia (HLP IIa), type IIb hyperlipoproteinemia (HLP IIb), or type IV hyperlipoproteinemia (HLP IV). Because several family members had relatively severe low-density lipoprotein (LDL) cholesterol elevation, in order to dissect the possible contribution to the plasma lipoprotein abnormalities in this pedigree, we identified a novel point mutation in the low-density lipoprotein receptor (LDLR) gene, a G-to-A transition at nucleotide position 337 in exon 4. This change substituted lysine for glutamic acid at codon 92 (D92K) of the LDL receptor. By means of mutant allele-specific amplification we determined that the mutation co-segregated with elevated cholesterol and LDL cholesterol in the plasma of family members with HLP IIa and HLP IIb, but not with the elevated plasma triglycerides seen in HLP IIb and HLP IV patients. Thus, in families with apparent familial combined hyperlipidemia, a defective LDLR allele and other genetic or environmental factors that elevate plasma triglycerides may account for the multiple lipid phenotypes observed in this kindred.
    Materialart: Digitale Medien
    Standort Signatur Erwartet Verfügbarkeit
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