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1. |
X‐Linked testicular feminization in the mouse as a non‐inducible regulatory mutation of the Jacob‐Monod type |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 121-127
Susumu Ohno,
Mary F. Lyon,
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摘要:
Testosterone and 5 α‐dihydrotestosterone normally induce alcohol dehydrogenase (ADH) production in the mouse kidney. The following results suggest that the X‐linked testicular feminization (T fm) mutation in the mouse is anon‐induciblemutation of a repressive regulatory gene locus. Eleven affected XTfmY mice and 3 XTfmX+heterozygous females, as well as their normal sibs, were challenged with 10 mg of either testosterone or 5α‐dihydrotestosterone and killed 5 days later. Kidney ADH of normal sibs were in the fully induced state, while no detectable kidney ADH activity was found in XTemY. In accordance with the X‐inactivation hypothesis, individual kidneys of heterozygous females showed extremely variable degrees of inducibility of
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01627.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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2. |
Some fine structural and functional features of lymphocytes in “acquired” agammaglobulinernia A genetically determined disease |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 128-138
Steven D. Douglas,
Roberta M. Kamin,
H. Hugh Fudenberg,
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摘要:
Present evidence for the genetic basis of “acquired” agarnmaglobulinernia has been reviewed. The previously demonstrated serologic abnormalities and the quantitative abnormalities ofin vitrolymphocyte response to phytornitogens in parents of these patients are reported. In addition, a qualitative difference in the resultant cell types followingin vitrostimulation of lymphocytes with pokeweed mitogen (PWM) between agammaglobulinemic patients, their parents, and normal individuals has been shown. These studies suggest that “acquired” agammaglobulinernia is an autosomal recessive disease, perhaps related to either a defective lymphocyte subpopulation or failure of cytodifferen
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01628.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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3. |
Serum lipoproteins in plasma lecithin:cholesterol acyltransferase deficiency, studied by electron microscopy |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 139-150
H. Torsvik,
Marit Hornberg Solaas,
E. Gjone,
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摘要:
Serum lipoproteins from a patient with LCAT deficiency have been studied by electron microscopy and compared with lipoproteins from a normal individual and a patient with hyperlipo‐proteinemia of type IV. Particles of density<1.006 g/ml from the LCAT deficiency patient were within a range of 230–3000 Å in diameter, whereas the diameters of the corresponding particles from the other two subjects fell within a range from 230 to 900 Å. A mean diameter of approximately 200 Å was found for the low density lipoproteins (l.019–1.063 g/ml) from the three subjects investigated.In LCAT deficiency the high density lipoprotein (1.063–1.195 g/ml) particles demonstrated a tendency to rouleau‐formation, giving the molecules a coinlike appearance with a mean diameter of 162 Å, and a mean thickness of 46 Å. In electron micrographs of HDL particles from the other two subjects studied, rouleau‐formation was not observed, and the mean diameters were of 82 and 85 Å, respectively.By gel filtration on Sephadex G‐200 of the HDL fraction from the patient with LCAT deficiency two populations of particles were found, one with a mean particle diameter of 163 Å and one with particle
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01629.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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4. |
Precipitating factors against chicken proteins in patients with Down's syndrome |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 151-158
M. Adinolfi,
B. Gilligan,
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摘要:
Precipitating factors against chicken serum proteins detected by double diffusion in agar gel were observed in 40 % of D.S. patients studied. The precipitating factors were found to be associated with γGglobulins. Similar factors were absent in groups of normal children, mentally retarded subjects, and parents and siblings of the D.S. patients. No association was found between the precipitating factors and the presence of Pe antibodies or Au‐SH antige
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01630.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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5. |
Interaction between antilymphocyte globulin and phytohemagglutinin in human lymphocyte cultures |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 159-165
T. Valdemar Skoog,
Kerstin Lindahl‐Kiessling,
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摘要:
The interaction between antilymphocyte globulin (ALG) and phytohemagglutinin (PHA) in human lymphocyte culture has been studied. Treatment of the cells with rabbit anti‐human lymphocyte globulin (RAHLG) was found to inhibit their response to PHA. This combined ALG‐PHA effect in the initial stages of lymphocyte stimulation may be explained by a model of drug‐receptor interaction which shows that PHA is inhibited competitively by
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01631.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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6. |
Quantitative variation in serum ceruloplasmin among ethnic groups |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 166-170
M. H. K. Shokeir,
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摘要:
Serum ceruloplasmin levels were determined enzymatically and immunochemically in Caucasians, Negroes, Orientals, and Amerindians. Orientals were found to have lower levels than either Negroes or Caucasians whereas the levels in Amerindians were higher. The differences were statistically significant at the 0.01 and 0.05 levels respectively.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01632.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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7. |
Rivanol treatment of cystic fibrosis serum: effect of supernatant upon ciliary action |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 171-176
Michael L. McCombs,
Barbara H. Bowman,
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摘要:
Serum from cystic fibrosis patients and their parents will inhibit ciliary movement on oyster gill tissue. Previous studies have indicated the factor responsible for ciliary inhibition is a cationic protein with a molecular weight between 125,000 to 200,000, and has properties similar to γG‐globulin. To support this evidence, sera from CF patients, heterozygotes, and control individuals were subjected to rivanol precipitation and the supernatants tested on oyster cilia. In addition other sources of cilia and flagella were examined as possible assay systems for the CF fact
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01633.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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8. |
Studies on the genetic polymorphism of the C'3 of human serum |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 177-180
Ure Berg,
Grethe Noer,
Arvid Heiberg,
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摘要:
The results of screening sera from 136 healthy Norwegian blood donors by means of an agarose gel‐electrophoresis technique with respect to the phenotypes within the C'3 polymorphism are reported. The different phenotypes were easily recognized, and the distribution of phenotypes among unrelated individuals was in agreement with the expectancy from Hardy‐Weinberg equilibrium. A frequency of 0.14 for the postulated geneC31and of 0.84 forC32was found. In five of the 136 samples tested, rarer genes (two different) had apparently contributed to the phenot
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01634.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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9. |
FamiIial ano‐rectal anornaIy |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 181-182
H. Stein,
K. Fried,
R. Horner,
E. M. Luttwak,
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摘要:
The occurrence of an ano‐rectal malformation in both father and son, indicative of a possible dominant inheritance, is reporte
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01635.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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10. |
Prevention of rhesus isoimmunization |
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Clinical Genetics,
Volume 1,
Issue 3‐4,
1970,
Page 183-215
C. A. Clarke,
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摘要:
The prevention of Rh isoimmunization by the giving of anti‐D gammaglobulin to non‐immunized Rh‐negative women after the birth of an Rh‐positive child is discussed under the following headings: Introduction and the ideas leading to the therapy; Clinical trials; Failures and “failures”. Obstetrical factors relevant to immunization; Risks of the prophylaxis, (a) to the mothers, (b) to volunteer blood donors; Dosage of anti‐D gammaglobulin; The Kleihauer test; Priorities in the use of anti‐D, (a) in abortions, (b) in ABO incompatibility between mother and foetus, (c) in hypertensive patients; Provision of anti‐D gammaglobulin; Mechanisms of protection; Leukocyte antibodies and Rh; The role of intensive plasmapheresis to lo
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1970.tb01636.x
出版商:Blackwell Publishing Ltd
年代:1970
数据来源: WILEY
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