ArticleJournal of Alzheimer's disease & Parkinsonism2017
Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.
Article in Journal of Alzheimer's disease & Parkinsonism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Neuroprotective Role of THBS2 in Experimental Spinal Cord Injury Via its Anti-neuroinflammatory and Anti-apoptotic Properties.Biochemical genetics · 2026Article
- Rare and novel genetic variants in sporadic and familial Alzheimer's disease: insights from the first Saudi cohort.Frontiers in aging · 2026Article
- Coupling relationship between glucose and oxygen metabolisms to serve as an imaging biomarker for Alzheimer's disease.Scientific reports · 2025Article
- Deep-embedded clustering by relevant scales and genome-wide association study in autism.PloS one · 2025Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- The Construction of a Multidomain Risk Model of Alzheimer's Disease and Related Dementias.Journal of Alzheimer's disease : JAD · 2023Article
- Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.Alzheimer's research & therapy · 2022Article
- Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.Molecular neurodegeneration · 2022Review
- How understudied populations have contributed to our understanding of Alzheimer's disease genetics.Brain : a journal of neurology · 2021Review
- Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease.Alzheimer's & dementia (Amsterdam, Netherlands) · 2021Article
- Genetic Determinants Highlight the Existence of Shared Etiopathogenetic Mechanisms Characterizing Age-Related Macular Degeneration and Neurodegenerative Disorders.Frontiers in neurology · 2021Article
- Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions.Frontiers in genetics · 2021Article
- Involvement of Netrins and Their Receptors in Neuronal Migration in the Cerebral Cortex.Frontiers in cell and developmental biology · 2020Review
- Glutamate receptor delocalization in postsynaptic membrane and reduced hippocampal synaptic plasticity in the early stage of Alzheimer's disease.Neural regeneration research · 2019Article
- Large tumor suppressor kinase 2 overexpression attenuates 5-FU-resistance in colorectal cancer via activating the JNK-MIEF1-mitochondrial division pathway.Cancer cell international · 2019Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveAlzheimer's disease (AD) is a neurodegenerative disorder for which more than 20 genetic loci have been implicated to date. However, studies demonstrate not all genetic factors have been identified. Therefore, in this study we seek to identify additional rare variants and novel genes potentially contributing to AD.
methodsWhole exome sequencing was performed on 23 multi-generational families with an average of eight affected subjects. Exome sequencing was filtered for rare, nonsynonymous and loss-of-function variants. Alterations predicted to have a functional consequence and located within either a previously reported AD gene, a linkage peak (LOD>2), or clustering in the same gene across multiple families, were prioritized.
resultsRare variants were found in known AD risk genes including
conclusionUtilizing large families with a heavy burden of disease allowed for the identification of rare variants co-segregating with disease. Variants were identified in both known AD risk genes and in novel genes.
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Registered trials
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