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Progerin

Progerin (UniProt# P02545-6) is a truncated version of the lamin A protein involved in the pathology of Hutchinson–Gilford progeria syndrome (HGPS). Progerin is most often generated by a sporadic single point nucleotide polymorphism c.1824 C>T (GGC -> GGT, p.Gly608Gly)[clarification needed] in the gene that codes for matured Lamin A. This mutation…

Overview, Premature aging & Lonafarnib

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Overview

Point mutation

Premature aging

Lonafarnib

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Map overview Semantic statistics

Progerin

Nodes35
Edges34
Triples19
Avg. degree1.94
Density0.057143
Components1

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Progerin

Top relations

related to Premature aging · 8
Progerin → DNA, HGPS, HGPS Progerin, Lamin, Matured Lamin, Rapamycin, The, This
related to Point mutation · 7
Progerin → G608, GGC, GGT, Gly608Gly, Lamin, The, This
related to Lonafarnib · 4
Progerin → FDA, HGPS, Lonafarnib, Researchers

Important terminology Word statistics

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Important terminology

lamin protein gene dna premature hgps single nucleotide polymorphism matured causing double-strand breaks mutation cell progeria activates deletion 50 nuclear

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Progerinrelated to LonafarnibResearchers0.60section
Progerinrelated to LonafarnibHGPS0.60section
Progerinrelated to LonafarnibLonafarnib0.60section
Progerinrelated to LonafarnibFDA0.60section
Progerinrelated to Point mutationGGC0.60section
Progerinrelated to Point mutationGGT0.60section
Progerinrelated to Point mutationGly608Gly0.60section
Progerinrelated to Point mutationThe0.60section
Progerinrelated to Point mutationG6080.60section
Progerinrelated to Point mutationThis0.60section
Progerinrelated to Point mutationLamin0.60section
Progerinrelated to Premature agingThe0.60section

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    Min side: 3
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