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1. |
Human biology: A special issue |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 941-942
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ISSN:0265-9247
DOI:10.1002/bies.950181202
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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2. |
At mid‐point in the molecular revolution |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 943-944
James V. Neel,
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ISSN:0265-9247
DOI:10.1002/bies.950181203
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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3. |
Human evolution |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 945-954
Bernard Wood,
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摘要:
AbstractThe common ancestor of modern humans and the great apes is estimated to have lived between 5 and 8 Myrs ago, but the earliest evidence in the human, or hominid, fossil record isArdipithecus ramidus, from a 4.5 Myr Ethiopian site. This genus was succeeded byAustralopithecus, within which four species are presently recognised. All combine a relatively primitive postcranial skeleton, a dentition with expanded chewing teeth and a small brain. The most primitive species in our own genus,Homo habilisandHomo rudolfensis, are little advanced over the australopithecines and with hindsight their inclusion inHomomay not be appropriate. The first species to share a substantial number of features with laterHomoisHomo ergaster, or ‘early AfricanHomo erectus’, which appears in the fossil record around 2.0 Myr. Outside Africa, fossil hominids appear asHomo erectus‐like hominids, in mainland Asia and in Indonesia close to 2 Myr ago; the earliest good evidence of ‘archaicHomo’ in Europe is dated at between 600–700 Kyr before the present. Anatomically modern human, orHomo sapiens, fossils are seen first in the fossil record in Africa around 150 Kyr ago. Taken together with molecular evidence on the extent of DNA variation, this suggests that the transition from ‘archiac’ to ‘modern’Homomay have ta
ISSN:0265-9247
DOI:10.1002/bies.950181204
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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4. |
Sex determination in humans |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 955-963
Alan J. Schafer,
Peter N. Goodfellow,
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摘要:
AbstractIn mammals, the Y chromosome induces testis formation and thus male sexual development; in the absence of a Y chromosome, gonads differentiate into ovaries and female development ensues. Molecular genetic studies have identified the Y‐located testis determining geneSRYas well as autosomal and X‐linked genes necessary for gonadal development. The phenotypes resulting from mutation of these genes, together with their patterns of expression, provide the basis for establishing a hierachy of genes and their interactions in the mammalian sex determination path
ISSN:0265-9247
DOI:10.1002/bies.950181205
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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5. |
Analysing human developmental abnormalities |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 965-971
Robin M. Winter,
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摘要:
AbstractAbout one in forty babies is born with a recognisable congenital anomaly at birth. Rapid progress is being made in recognising the genetic contribution to these defects. From over 2000 likely single gene malformation syndromes in humans the gene has been isolated or mapped in about 10%. Despite the availability of animal models, the study of malformations in humans continues to reveal novel genes and unpredicted functions for known genes. The importance of the study of clinical malformations to the understanding of embryological development in humans and other organisms is discussed and reviewed.
ISSN:0265-9247
DOI:10.1002/bies.950181206
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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6. |
It's the genes! EST access to human genome content |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 973-981
David Gerhold,
C. Thomas Caskey,
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摘要:
AbstractESTs or ‘expressed sequence tags’ are DNA sequences read from both ends of expressed gene fragments. The Merck‐WashU EST Project and several other public EST projects are being performed to rapidly discover the complement of human genes, and make them easily accessible. These ESTs are widely used to discover novel members of gene families, to map genes to chromosomes as ‘sequence‐tagged sites’ (STSs), and to identify mutations leading to heritable diseases. Informatic strategies for querying the EST databases are discussed, as well as the strengths and weaknesses of the EST data. There is a compelling need to build on the informatic synthesis of human gene data, and to devise facile methods for determining gen
ISSN:0265-9247
DOI:10.1002/bies.950181207
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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7. |
Mitochondrial genetics and human disease |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 983-991
Lawrence I. Grossman,
Eric A. Shoubridge,
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摘要:
AbstractMitochondria contain a molecular genetic system to express the 13 protein components of the electron transport system encoded in the mitochondrial genome (mtDNA). Defects in the function of this system result in some diaseases, many of which are multisystem disorders, prominently involving highly aerobic, postmitotic tissues. These defects can be caused by large‐scale rearrangements of mtDNA, by point mutations, or by nuclear gene mutations resulting in abnormalities in mtDNA. Although any of these mutations would be expected to produce a similar clinical phenotype by compromising oxidative phosphorylation, the surprising and puzzling result is that different clinical phenotypes are generally associated with specific mtDNA mutations. Moreover, the same mutation can produce a distinct clinical phenotype in different individuals or pedigrees. MtDNA rearrangements are also found in aged individuals, but at a subclinical level, suggesting that normal and pathological processes can differ by the effect of genetic or environmental factors on the error rate of mtDNA replicatio
ISSN:0265-9247
DOI:10.1002/bies.950181208
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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8. |
Mouse models of human genetic disease: Which mouse is more like a man? |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 993-998
Robert P. Erickson,
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摘要:
AbstractThere has always been great interest in animal models of human genetic disease, and mice provide the largest number of examples. A mutation in the homologous gene in mice does not always lead to the same phenotype as is found in man, however. Recent studies made it apparent that one mutation can have markedly different phenotypes when placed on different genetic backgrounds. This variation is due to different alleles at modifying loci in various inbred strains. Thus, if one wishes to obtain the optimal mouse model for a human disease, one needs to choose the correct genetic background as well as the correct mutation.
ISSN:0265-9247
DOI:10.1002/bies.950181209
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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9. |
Human somatic cell gene therapy |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 999-1007
Arthur Bank,
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摘要:
AbstractThe prelude to successful human somatic gene therapy, i.e. the efficient transfer and expression of a variety of human genes into target cells, has already been accomplished in several systems. Safe methods have been devised to do this using non‐viral and viral vectors. Potentially therapeutic genes have been transferred into many accessible cell types, including hematopoietic cells, hepatocytes and cancer cells, in several different approaches toex vivogene therapy. Successfulin vivogene therapy requires improvements in tissuetargeting and new vector design, which are already being sought. Gene‐transfer protocols have been approved for human use in inherited diseases, cancer and acquired disorders. Althouth the results of these trials to date have been somewhat disappointing, human somatic cell gene therapy promises to be an effective addition to the arsenal of approaches to the therapy of many human diseases in the 21st century if not soo
ISSN:0265-9247
DOI:10.1002/bies.950181210
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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10. |
Human senescence |
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BioEssays,
Volume 18,
Issue 12,
1996,
Page 1009-1016
Thomas B. L. Kirkwood,
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摘要:
AbstractHuman life expectancy has increased dramatically through improvements in public health, housing, nutrition and general living standards. Lifespan is now limited chiefly by intrinsic senescence and its associated frailty and diseases. Understanding the biological basis of the ageing process is a major scientific challenge that will require integration of molecular, cellular, genetic and physiological approaches. This article reviews progress that has been made to date, particularly with regard to the genetic contribution to senescence and longevity, and assesses the scale of the task that remains.
ISSN:0265-9247
DOI:10.1002/bies.950181211
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1996
数据来源: WILEY
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