Published in Mol Genet Genomics on July 01, 2006
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A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat (2008) 1.06
Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes. Mol Biol Evol (2010) 1.05
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The landscape of human genes involved in the immune response to parasitic worms. BMC Evol Biol (2010) 0.99
Diverse evolutionary histories for beta-adrenoreceptor genes in humans. Am J Hum Genet (2009) 0.98
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Hum Mutat (2005) 0.96
The signature of long-standing balancing selection at the human defensin beta-1 promoter. Genome Biol (2008) 0.95
Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes. BMC Med (2012) 0.94
The role of protozoa-driven selection in shaping human genetic variability. Trends Genet (2010) 0.94
Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach. PLoS Genet (2010) 0.94
Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene. Hum Genet (2010) 0.93
A functional variant in ERAP1 predisposes to multiple sclerosis. PLoS One (2012) 0.93
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A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles. Immunity (2013) 0.87
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Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders. Genome Biol (2014) 0.82
Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors. Genome Biol Evol (2014) 0.82
Crohn's disease loci are common targets of protozoa-driven selection. Mol Biol Evol (2013) 0.82
An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype. Hum Genet (2004) 0.82
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis. Hum Genet (2011) 0.81
Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing. Biochem Biophys Res Commun (2004) 0.81
Investigating the "steric gate" of human immunodeficiency virus type 1 (HIV-1) reverse transcriptase by targeted insertion of unnatural amino acids. Biochemistry (2007) 0.81
A positively selected APOBEC3H haplotype is associated with natural resistance to HIV-1 infection. Evolution (2011) 0.80
Variants in SNAP25 are targets of natural selection and influence verbal performances in women. Cell Mol Life Sci (2011) 0.80
Comparative analysis of the human dystrophin and utrophin gene structures. Genetics (2002) 0.79
Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7. Mol Biol Evol (2010) 0.78
Kinetic characterization of exonuclease-deficient Staphylococcus aureus PolC, a C-family replicative DNA polymerase. PLoS One (2013) 0.78
Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature. Genome Res (2003) 0.77
Molecular machines and targeted molecular dynamics: DNA in motion. Structure (2010) 0.77
A complex selection signature at the human AVPR1B gene. BMC Evol Biol (2009) 0.77
Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease. Hum Mutat (2013) 0.77
Alternative sources of neurons and glia from somatic stem cells. Cell Transplant (2002) 0.77
Cytosine unstacking and strand slippage at an insertion-deletion mutation sequence in an overhang-containing DNA duplex. Biochemistry (2014) 0.76
Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations. Pharmacogenet Genomics (2010) 0.76
Three residues of the interdomain linker determine the conformation and single-base deletion fidelity of Y-family translesion polymerases. J Biol Chem (2014) 0.75
Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets. RNA Biol (2015) 0.75
Endoplasmic reticulum aminopeptidase 2 haplotypes play a role in modulating susceptibility to HIV infection. AIDS (2013) 0.75