Disease, Genetics of
Genetics of Alzheimer's disease: recent advances
... The majority (95%) of AD cases, however, are of later onset and do not follow Mendelian inheritance, despite showing significant heritability [11,12]. Like most other psychiatric disorders, the genetics of the ...
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The genetics of neurodevelopmental disease
... the genetics of these common ...neurodevelopmental disease, highlighting the importance of individual, rare mutations and overlapping genetic aetiology of various ...
7
The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management
... (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes ...the genetics of CMT, ...
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The genetics of Alzheimer's disease: putting flesh on the bones
... Alzheimer’s Disease Initiative (EADI), Genetic and Environmental Risk in Alzheimer’s Disease (GERAD), Alzheimer’s Disease Genetic Consortium (ADGC), Cohorts for Heart and Aging Research in Genomic ...
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Molecular genetics of hunter disease and the psuedodeficiency of arylsulphatase a
... the disease-causing mutations because they cause frame-shifts, create stop codons, change in the charge of an amino acid side chain or affect the splicing of ...the disease as for example, polymorphisms in ...
244
A HapMap harvest of insights into the genetics of common disease
... The International HapMap Project was designed to create a genome-wide database of patterns of human genetic variation, with the expectation that these patterns would be useful for genetic association studies of common ...
17
Mending a broken heart—the genetics of heart disease
... codes were observed in multiple genes, dogs were much more likely to get cardiomyopathy [2]. So, one gene or one mutation alone is not necessarily controlling heart disease. Over the years, scientists have shown ...
15
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
... The 17q21 hit region falls on a known polymorphic 900 kb inversion. The two forms of the inversion, often termed H1 and H2, vary in frequency globally, with the minor H2 haplo- type found almost exclusively in Southwest ...
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The genetics of breast cancer: risk factors for disease
... SNPs. Disease risks associated with these SNPs are low, typically much ...causing disease is also unknown, but ongoing study is revealing novel insights into breast cancer ...of disease subtypes, for ...
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Comparative Genetics of Disease Resistance Within the Solanaceae
... defined disease resistance genes (R genes) and R gene homologues were analyzed in three solanaceous crop genera, Lycopersicon (tomato), Solanum (potato), and Capsicum ...
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The genetics of Parkinson’s disease: review of current and emerging candidates
... ethnic background, which could potentially have influenced results from GWASs where large sample sizes are used from cohorts with different ethnic backgrounds. Differences in PD phenotypes such as disease onset, ...
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The molecular genetics of Charcot-Marie-Tooth disease
... Sottas disease, and it was not until the 1950"s that it was realized that hypertrophic neuropathy is a non - specific consequence of a chronic segm ental dem yehnation and rem yelinadon which is seen in a w ...
272
The genetics of Ménière’s disease
... Abstract: Our understanding of the genetic basis of Ménière’s disease (MD) is still limited. Although the familial clustering and the geographical and racial differences in incidence strongly suggest a certain ...
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The genetics of Alzheimer's disease
... were then sequenced by NGS analyzers. The sequencing data were mapped back to the sample and to the control as reference. The pooled sequencing analysis detected PGRN and MAPT mutations in patients with clinically ...
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The molecular genetics of Fabry disease
... Fabiy disease can be identified conclusively by enzyme assay and their diagnosis is not a ...and disease progression in carrier females depends on the proportion and location of cells expressing the m ...
274
Genetics of rheumatic disease
... BANK1 (B cell scaffold protein with ankyrin repeats-1) undergoes tyrosine phosphorylation upon B cell activation by the BCR, leading to an increase in intracellular calcium through the inositol trisphosphate mechanism ...
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Genetics of vascular dementia – review from the ICVD working group
... Understanding the causal genes and their underlying disease mechanisms can also lead to the identification of pathways. These can provide attractive targets for inter- vention and subsequently stimulate drug ...
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Influence of molecular genetics in Vogt-Koyanagi-Harada disease
... (VKH) disease is a systemic autoimmune disorder against ...the genetics of VKH disease and the references of these articles were ...VKH disease, some of which may alter the clinical course of ...
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Moyamoya disease and syndromes: from genetics to clinical management
... moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the ...
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Late onset Alzheimer’s disease genetics implicates microglial pathways in disease risk
... Zhang et al., conducted a similar analysis with case and control samples from three brain areas in 376 LOAD pa- tients and 173 non-demented controls [83]. They then constructed multi-tissue co-expression networks to in- ...
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