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Genetic study on frontotemporal lobar degeneration in India. 2013

Gautami Das, and Tamal Sadhukhan, and Dipanwita Sadhukhan, and Atanu Biswas, and Sandip Pal, and Amitabha Ghosh, and Shyamal K Das, and Kunal Ray, and Jharna Ray

UI MeSH Term Description Entries
D007194 India A country in southern Asia, bordering the Arabian Sea and the Bay of Bengal, between Burma and Pakistan. The capitol is New Delhi. Republic of India
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077153 Progranulins Cysteine-rich, precursor glycoproteins encoded by the granulin gene (GRN). They contain granulin-repeats separated by linker sequences that are cleaved by a variety of proteases to release the individual GRANULIN PEPTIDES. The mammalian progranulin is composed of a half-granulin repeat followed by 7 granulin repeats. The mammalian GRANULINS are named PARAGRANULIN and granulin 1-7 for their order in the progranulin propeptide. Progranulin has growth-factor like effects and is expressed over a broad range of tissues. Under-expression of progranulin is linked to neurodegenerative diseases including FRONTOTEMPORAL DEMENTIA and NEURONAL CEROID LIPOFUSCINOSIS, while over-expression is linked to metabolic diseases including OBESITY, and INSULIN RESISTANCE. Acrogranin,Granulin Precursor,Granulin Precursor Protein,PC Cell-Derived Growth Factor,Proepithelin,Progranulin,PC Cell Derived Growth Factor
D001057 Apolipoproteins E A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III. Apo-E,Apo E,Apo E Isoproteins,ApoE,Apolipoprotein E Isoproteins,Apoprotein (E),Apoproteins E,Isoproteins, Apo E,Isoproteins, Apolipoprotein E
D016875 tau Proteins Microtubule-associated proteins that are mainly expressed in neurons. Tau proteins constitute several isoforms and play an important role in the assembly of tubulin monomers into microtubules and in maintaining the cytoskeleton and axonal transport. Aggregation of specific sets of tau proteins in filamentous inclusions is the common feature of intraneuronal and glial fibrillar lesions (NEUROFIBRILLARY TANGLES; NEUROPIL THREADS) in numerous neurodegenerative disorders (ALZHEIMER DISEASE; TAUOPATHIES). tau Protein,Protein, tau,Proteins, tau
D057174 Frontotemporal Lobar Degeneration Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA. FTLD,Degeneration, Frontotemporal Lobar,Degenerations, Frontotemporal Lobar,FTLDs,Frontotemporal Lobar Degenerations,Lobar Degeneration, Frontotemporal,Lobar Degenerations, Frontotemporal
D020022 Genetic Predisposition to Disease A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms

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