Annual Review of Genomics and Human Genetics

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Recent Advances in the Genetics of Parkinson's Disease
Annual Review of Genomics and Human Genetics - Tập 12 Số 1 - Trang 301-325 - 2011
Ian Martin, Valina L. Dawson, Ted M. Dawson
Genetic studies have provided valuable insight into the pathological mechanisms underlying Parkinson's disease (PD). The elucidation of genetic components to what was once largely considered a nongenetic disease has given rise to a multitude of cell and animal models enabling the dissection of molecular pathways involved in disease etiology. Here, we review advances obtained from models of dominan... hiện toàn bộ
COMPLEX GENETICS OF GLAUCOMA SUSCEPTIBILITY
Annual Review of Genomics and Human Genetics - Tập 6 Số 1 - Trang 15-44 - 2005
Richard T. Libby, Douglas B. Gould, Michael G. Anderson, Simon W. M. John
▪ Abstract  Glaucoma describes a group of diseases that kill retinal ganglion cells. There are different types of glaucoma, and each appears to be genetically heterogeneous. Different glaucoma genes have been identified, but these genes account for only a small proportion of glaucoma. Most glaucoma cases appear to be multifactorial, and are likely affected by multiple interacting loci. A number of... hiện toàn bộ
The Mitochondrial Proteome and Human Disease
Annual Review of Genomics and Human Genetics - Tập 11 Số 1 - Trang 25-44 - 2010
Sarah E. Calvo, Vamsi K. Mootha
For nearly three decades, the sequence of the human mitochondrial genome (mtDNA) has provided a molecular framework for understanding maternally inherited diseases. However, the vast majority of human mitochondrial disorders are caused by nuclear genome defects, which is not surprising since the mtDNA encodes only 13 proteins. Advances in genomics, mass spectrometry, and computation have only rece... hiện toàn bộ
Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes
Annual Review of Genomics and Human Genetics - Tập 10 Số 1 - Trang 285-311 - 2009
Laurent Duret, Nicolas Galtier
Recombination is typically thought of as a symmetrical process resulting in large-scale reciprocal genetic exchanges between homologous chromosomes. Recombination events, however, are also accompanied by short-scale, unidirectional exchanges known as gene conversion in the neighborhood of the initiating double-strand break. A large body of evidence suggests that gene conversion is GC-biased in man... hiện toàn bộ
Hedgehog Signaling and Human Disease
Annual Review of Genomics and Human Genetics - Tập 3 Số 1 - Trang 47-65 - 2002
A. Bale
Developmental pathways first elucidated by genetic studies in the fruit fly Drosophila melanogaster are conserved in vertebrates. The hedgehog pathway, first discovered because of its involvement in early Drosophila development, plays a key role in human embryogenesis. Dissruption of this pathway has been associated with congenital anomalies of the central nervous system, axial skeleton, limbs, an... hiện toàn bộ
The Spatial Organization of the Human Genome
Annual Review of Genomics and Human Genetics - Tập 14 Số 1 - Trang 67-84 - 2013
Wendy A. Bickmore
In vivo, the human genome functions as a complex, folded, three-dimensional chromatin polymer. Understanding how the human genome is spatially organized and folded inside the cell nucleus is therefore central to understanding how genes are regulated in normal development and dysregulated in disease. Established light microscopy–based approaches and more recent molecular chromosome conformation cap... hiện toàn bộ
Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues
Annual Review of Genomics and Human Genetics - Tập 16 Số 1 - Trang 369-398 - 2015
Mollie Minear, Stephanie A. Alessi, Megan Allyse, Marsha Michie, Subhashini Chandrasekharan
Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination o... hiện toàn bộ
HUMAN MIGRATIONS AND POPULATION STRUCTURE: What We Know and Why it Matters
Annual Review of Genomics and Human Genetics - Tập 3 Số 1 - Trang 129-152 - 2002
David B. Goldstein, Lounès Chikhi
▪ Abstract  The increasingly obvious medical relevance of human genetic variation is fueling the development of a rich interface between medical genetics and the study of human genetic history. A key feature of this interface is a step increase in the size and diversity of genetic data sets, permitting a range of new questions to be addressed concerning our evolutionary history. Similarly, methodo... hiện toàn bộ
Sequence Divergence, Functional Constraint, and Selection in Protein Evolution
Annual Review of Genomics and Human Genetics - Tập 4 Số 1 - Trang 213-235 - 2003
Justin C. Fay, Chung‐I Wu
The genome sequences of multiple species has enabled functional inferences from comparative genomics. A primary objective is to infer biological functions from the conservation of homologous DNA sequences between species. A second, more difficult, objective is to understand what functional DNA sequences have changed over time and are responsible for species' phenotypic differences. The neutral the... hiện toàn bộ
A NEWAPPROACH TODECODINGLIFE: Systems Biology
Annual Review of Genomics and Human Genetics - Tập 2 Số 1 - Trang 343-372 - 2001
Trey Ideker, Timothy Galitski, Leroy Hood
▪ Abstract  Systems biology studies biological systems by systematically perturbing them (biologically, genetically, or chemically); monitoring the gene, protein, and informational pathway responses; integrating these data; and ultimately, formulating mathematical models that describe the structure of the system and its response to individual perturbations. The emergence of systems biology is desc... hiện toàn bộ
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