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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form ofExpand
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Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence similarity to the S182 gene on chromosome 14q24.3. Mutations, includingExpand
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The Ctenophore Genome and the Evolutionary Origins of Neural Systems
The origins of neural systems remain unresolved. In contrast to other basal metazoans, ctenophores (comb jellies) have both complex nervous and mesoderm-derived muscular systems. These holoplanktonicExpand
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Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and βAPP processing
Nicastrin, a transmembrane glycoprotein, forms high molecular weight complexes with presenilin 1 and presenilin 2. Suppression of nicastrin expression in Caenorhabditis elegans embryos induces aExpand
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Genetic and physiological data implicating the new human gene G72 and the gene for d-amino acid oxidase in schizophrenia
A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia. DNA from 213 schizophrenic patients and 241Expand
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Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
The molecular mechanisms controlling human hair growth and scalp hair loss are poorly understood. By screening about 350,000 individuals in two populations from the Volga-Ural region of Russia, weExpand
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Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Missense mutations in the presenilin 2 (PS-2) gene on chromosome 1 were sought by direct nucleotide sequence analysis of the open reading frame of 60 pedigrees with familial Alzheimer's diseaseExpand
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Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a
Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One notable exception to this general pattern is the young haplogroup R1a that exhibits post-GlacialExpand
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Screening for PS1 mutations in a referral-based series of AD cases
Background: Mutations in the presenilin-1 gene (PS1) account for a majority of patients with early-onset familial AD. However, the clinical indications and algorithms for genetic testing in dementiaExpand
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Human-Specific Histone Methylation Signatures at Transcription Start Sites in Prefrontal Neurons
Mapping histone methylation landscapes in neurons from human, chimpanzee, and macaque brains reveals coordinated, human-specific epigenetic regulation at hundreds of regulatory sequences.
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