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  • 1
    Electronic Resource
    Electronic Resource
    Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation (2000)
    Springer
    Human genetics 〈Berlin〉 106 (2000), S. 277-287 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. An inv(11)(q13.5;q25) inversion was previously identified in a 9-month-old male patient with complex cyanotic heart defects, altered lung lobation, symmetric liver, and abnormally lobulated spleen (polysplenia). This chromosomal rearrangement was inherited from the phenotypically normal father. We termed these regions DHTX-A (disrupted in heterotaxy) –A at 11q13.5 and DHTX-B at 11q25. Here, we report the isolation and characterization of the inversion breakpoints and the gene that is disrupted by the DHTX-A breakpoint. The putative DHTX is identical to the UVRAG gene, which was originally identified as a gene that complements the UV sensitivity of xeroderma pigmentosum complementation group C. The 4-kb mRNA was found to be encoded by a large gene, at least 300 kb long, composed of 15 exons. The function of the gene product remains largely unknown. However, the near central portion of the UVRAG protein is predicted to contain a coiled-coil domain, which has been implicated in mediating protein-protein interactions. Southern analyses and fluorescence in situ hybridization (FISH) revealed that the DHTX-A breakpoint in the patient and his father lies within the intron between exons 6 and 7 of UVRAG. Northern blot analysis indicated strong expression in human fetal and adult tissues and in mouse embryonic day-7 and adult tissues, respectively. Whole mount in situ hybridization also showed that the Uvrag gene is expressed in the presomite-stage embryo. Several hypotheses are discussed to explain the relationship between the chromosomal inversion and the accompanying phenotypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390000245
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  • 2
    Electronic Resource
    Electronic Resource
    Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity (1982)
    Springer
    Human genetics 〈Berlin〉 60 (1982), S. 373-375 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two unrelated patients with clinical features of 11p13 deletion syndrome, 3 years old and 3 months old, are reported. The clinical features of the patients included mental retardation, aniridia, nystagmus, blepharophimosis, and genitourinary abnormalities. Both patients were apparently free from Wilms' tumor and gonadoblastoma. Prometaphase banding analyses revealed a 46,XY,del(11)(p 1300p 1500) karyotype in one patient and 46,XX,dir ins(11;2)(p13;q12q23) in the other. Catalase activities in the erythrocytes in the two patients were respectively 65% and 56% of those of normal controls, close to the expected values in hemizygosity of the catalase gene. These findings confirmed a close linkage of the gene for catalase and those for the aniridia-Wilms' tumor or gonadoblastoma complex.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00569223
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  • 3
    Electronic Resource
    Electronic Resource
    The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families (1983)
    Springer
    Human genetics 〈Berlin〉 64 (1983), S. 343-355 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Following a previous collaborative study (Fraccaro et al. 1980), 20 new cases of 11q;22q translocation are described. Twelve families were ascertained through an unbalanced carrier of the translocation and eight cases were ascertained as balanced carriers. A segregation analysis was performed on the 110 families so far published. It was concluded that the 11q;22q translocation is a relatively frequent event, and that all the cases thus far reported might have the same breakpoints at 11q23.3 and 22q11.2. The translocation seems to be independent of environmental factors and it seems to have a low rate of mutation as indicated by the scarcity of de novo cases. The new data confirmed that only one type of unbalanced karyotype (47,XX or XY+der(22)t(11;22)(q23.3;q11.2)) is found among the offspring of the translocation carriers. The minimal overall recurrence risk for an unbalanced translocation was estimated to 2%. There was no difference between the recurrence risks for male and female balanced carriers, while the trend was confirmed of an excess of female balanced carriers among the phenotypically normal offspring of the t(11;22) female carriers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292366
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  • 4
    Electronic Resource
    Electronic Resource
    Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13) (1983)
    Springer
    Human genetics 〈Berlin〉 64 (1983), S. 90-93 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two cases of the Langer-Giedion syndrome (LGS) are reported. Chromosome analysis by high-resolution banding with 850 bands revealed the same abnormal karyotype, 46,XY or XX,del(8)(q23.3q24.13), which was the smallest deletion among those of LGS patients with 8q deletion. The deleted segments found in three patients with LGS analyzed by high-resolution banding have a part of 8q23.3 and 8q24.11 in common.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00289486
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  • 5
    Electronic Resource
    Electronic Resource
    A spatio-temporal model of ganglion cell receptive field in the cat retina (1986)
    Springer
    Biological cybernetics 54 (1986), S. 91-98 
    Details
    ISSN: 1432-0770
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Computer Science , Physics
    Notes: Abstract A spatio-temporal model of ganglion cell receptive fields is proposed on the basis of receptive field characteristics of cat retinal ganglion cells reported in our previous paper. The model consists of the linear and nonlinear mechanisms in the ganglion cell receptive field. The linear mechanism is assumed to be composed of antagonistic center and surround mechanisms. Then, by integrating these mechanisms we construct a spatio-temporal impulse response function of ganglion cell receptive field. Here we assume that spatio-temporal impulse response function may be factored into spatial and temporal terms. By Fouriertransforming the spatio-temporal impulse response function, we can obtain the spatio-temporal transfer function. Contrast sensitivity characteristics of X-and Y-cells in the cat retina may be explained by the transfer function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00320479
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  • 6
    Electronic Resource
    Electronic Resource
    The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 1-5 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract De novo chromosome structural abnormalities cannot always be diagnosed by the use of standard cytogenetic techniques. We applied a previously developed chromosome-band-specific painting method to the diagnosis of such rearrangements. The diagnostic procedures consisted of microdissection of an aberrant chromosomal region of a given patient, polymerase chain reaction (PCR) amplification of the dissected chromosomal DNA, and subsequent competitive fluorescence in situ hybridization (FISH) using the PCR products as a probe pool on metaphase chromosomes from the patient and/or a karyotypically normal person. With this strategy, we studied 6 de novo rearrangements (6p+, 6q+, 9p+, 17p+, +mar, and +mar) in 6 patients. These rearrangements had been seen by conventional banding but their origin could not be identified. In all 6 patients, we successfully ascertained the origin. Using an aberrant region-specific probe pool, FISH signals appeared on both the aberrant region and a region of another specific chromosome pair. A reverse probe pool that was generated through the microdissection of normal chromosomes at a candidate region for the origin of the aberration hybridized with both the aberrant and the candidate regions. We thus diagnosed one patient with 17p+ as having trisomy for 14q32-qter, one with 9p+ as having trisomy for 12pter-p12, one with 6q+ as having a tandem duplication (trisomy) of a 6q23-q25 segment, one with 6p+ as having a tandem duplication (trisomy) of a 6p23-q21.3 segment, one with a supernumerary metacentric marker chromosome as having tetrasomy for 18pter-cen, and the last with an additional small marker chromosome as having trisomy for 18p11.1 (or p11.2)-q11.2. The present targeted chromosome-band-painting method provides the simple and rapid preparation of a probe pool for region-specific FISH, and is useful for the diagnosis of chromosome abnormalities of unknown origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00216136
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  • 7
    Electronic Resource
    Electronic Resource
    Characterization of a P-type Copper-Stimulated ATPase from Mouse Liver (1999)
    Springer
    The journal of membrane biology 170 (1999), S. 13-16 
    Details
    ISSN: 1432-1424
    Keywords: Key words: Copper — P-type ATPase — ATPase activity — Acylphosphate formation — Iron — Liver
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract. Mouse liver microsomes treated with octylthioglucoside (OTG-microsomes) were examined for copper-stimulated ATPase activity. The activity was about 1 μmol Pi/mg protein/hr under optimal conditions [300 mm KCl, 3 mm MgSO4, 10 mm GSH, 0.5 μm CuSO4, 3 mm ATP and 50 mm acetate buffer at pH5.0]. A reducing agent such as GSH or dithiothreitol was required for the activity, and removal of Cu+ from the reaction mixture by bathocuporinedisulfonate resulted in a complete loss of copper-stimulated ATPase activity. Vanadate inhibited the copper-stimulated ATPase activity. The OTG-microsomes were phosphorylated in a hydroxylamine-sensitive and copper-stimulated way. Iron used instead of copper also stimulated both ATPase and phosphorylation. These results suggest that microsomes from mouse liver contain copper/iron-stimulated P-type ATPase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002329900533
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  • 8
    Electronic Resource
    Electronic Resource
    Layer-by-Layer Growth of 4He Adsorbed on One-dimensional 18Å-Pores (2000)
    Springer
    Journal of low temperature physics 121 (2000), S. 537-542 
    Details
    ISSN: 1573-7357
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract We have measured vapor pressures (P) of 4 He adsorbed on one-dimensional pores of 18 Å diameter with a sensitivity of 2×10 −3 mbar as a function of coverage down to 1.2 K. The isothermal compressibility (κT) calculated from P isotherm has two minima, which are associated with the completion of the first and the second layer. The adsorption energy was obtained quantitatively from an Arrhenius type temperature dependence of P. As the coverage is increased, the adsorption energy at T=0 per atom (Δ 0 /kB) decreases from 180 K to 35 K, followed by a clear step associated with a second layer promotion. After second layer completion, Δ 0 /kB is constant. The magnitude is the same value as the latent heat of the bulk 4 He liquid (7 K). These results give us a clear picture that 4 He film grows in a layer-by-layer fashion up to the second layer on one-dimensional pore walls.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1017594923321
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  • 9
    Electronic Resource
    Electronic Resource
    Measurement of open charm production in two-photon processes with detection of electron-inclusive events (1994)
    Springer
    The European physical journal 63 (1994), S. 213-218 
    Details
    ISSN: 1434-6052
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract Experimental studies of open charm production in two-photon processes have been performed. In the measurement, charmed hadrons were identified by electrons from their semi-leptonic decays. The result was compared with calculations based on the direct process and photon-gluon fusion process by resolved photons. We found that the effect of the gluon component in a photon is substantial in the observed events.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01411012
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  • 10
    Electronic Resource
    Electronic Resource
    Observation of Superfluid 4He Adsorbed in One-Dimensional Mesopores (1998)
    Springer
    Journal of low temperature physics 110 (1998), S. 573-578 
    Details
    ISSN: 1573-7357
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract To study one-dimensional (1D) quantum liquid of 4 He, we measured the heat capacity and performed a torsional oscillator experiment for 4 He adsorbed on a new mesoporous substrate whose adsorption area consists of walls of straight one-dimensional 18Å diameter tunnels. The presence of adsorbed quantum liquid was examined by the isotope effect on the heat capacity for 3 He and 4 He adatoms. Above a coverage n o , the heat capacity isotherms are completely different because of the Fermi and the Bose fluids, respectively. In the torsional oscillator experiment we observed superfluid 4 He above n o . The fraction of the superfluid decoupled from the motion of the substrate is 0.13, which is the same order as 0.18 for packed Pt fine powder and 0.24 for 80 Å-porous glasses. The result indicates that the superfluid state exists in the one-dimensional 4 He adatoms formed in the 18 Å diameter pores.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1022571203040
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