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Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's…
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
This work has identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls, and found that 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of theRET extracellular and transmembrane domains.
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
The data show a strong correlation between disease phenotype and the nature and position of theRET mutation, suggesting that a simple, constitutive activation of the RET tyrosine kinase is unlikely to explain the events leading to MEN 2A and FMTC.
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
It is found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM 106B, which implicate variants in TMEM106B as a strong risk factor for FTLD, suggesting an underlying pathogenic mechanism.
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
A genome-wide association study for general cognitive function in 300,486 individuals is performed and genetic loci that implicate neural and cell developmental pathways in this trait are identified.
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration–motor neuron disease
The objective was to identify the causative gene in an FTLD‐MND pedigree with no mutations in known dementia genes.
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)
In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer’s disease: TOMM40, APOE, ABCG1 and MEF2C.
Genetics of dementia
GSK3B polymorphisms alter transcription and splicing in Parkinson's disease
Results suggest GSK3B polymorphisms alter transcription and splicing and interact with Tau haplotypes to modify disease risk in PD.
ATP‐binding cassette transporter A7 regulates processing of amyloid precursor protein in vitro
These studies indicate that ABCA7 has the capacity to stimulate cellular cholesterol efflux to apoE discs and regulate APP processing resulting in an inhibition of Aβ production.