Annual Review of Genomics and Human Genetics
SCIE-ISI SCOPUS (2000-2023)
1527-8204
1545-293X
Mỹ
Cơ quản chủ quản: ANNUAL REVIEWS , Annual Reviews Inc.
Lĩnh vực:
Genetics (clinical)Molecular BiologyGenetics
Các bài báo tiêu biểu
A NEW APPROACH TO DECODING LIFE : Systems Biology▪ 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... ... hiện toàn bộ
Tập 2 Số 1 - Trang 343-372 - 2001
The RASopathies The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation–arteriovenous malformation syndrome, Costello sy... ... hiện toàn bộ
Tập 14 Số 1 - Trang 355-369 - 2013
Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes 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-bias... ... hiện toàn bộ
Tập 10 Số 1 - Trang 285-311 - 2009
The Mitochondrial Proteome and Human Disease 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 ... ... hiện toàn bộ
Tập 11 Số 1 - Trang 25-44 - 2010
Recent Advances in the Genetics of Parkinson's Disease 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 o... ... hiện toàn bộ
Tập 12 Số 1 - Trang 301-325 - 2011
The Spatial Organization of the Human Genome 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 conform... ... hiện toàn bộ
Tập 14 Số 1 - Trang 67-84 - 2013
Forensics and Mitochondrial DNA: Applications, Debates, and Foundations Debate on the validity and reliability of scientific methods often arises in the courtroom. When the government (i.e., the prosecution) is the proponent of evidence, the defense is obliged to challenge its admissibility. Regardless, those who seek to use DNA typing methodologies to analyze forensic biological evidence have a responsibility to understand the technology and its applications... ... hiện toàn bộ
Tập 4 Số 1 - Trang 119-141 - 2003
Sequence Divergence, Functional Constraint, and Selection in Protein Evolution 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 ne... ... hiện toàn bộ
Tập 4 Số 1 - Trang 213-235 - 2003
The Killer Immunoglobulin-Like Receptor Gene Cluster: Tuning the Genome for DefenseKiller immunoglobulin-like receptors (KIRs) are molecules expressed on the surface of natural killer (NK) cells, which play an important role in innate immunity. KIR recognition of major histocompatability complex (MHC) class I allotypes represents one component of the complex interactions between NK cells and their targets in determining NK cell reactivity. KIRs are encoded by a gene clus... ... hiện toàn bộ
Tập 7 Số 1 - Trang 277-300 - 2006
COMPLEX GENETICS OF GLAUCOMA SUSCEPTIBILITY▪ 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 n... ... hiện toàn bộ
Tập 6 Số 1 - Trang 15-44 - 2005