title: Molecular basis of telomere dysfunction in human genetic diseases.
abstract: Mutations in genes encoding proteins required for telomere structure, replication, repair and length maintenance are associated with several debilitating human genetic disorders. These complex telomere biology disorders (TBDs) give rise to critically short telomeres that affect the homeostasis of multiple organs. Furthermore, genome instability is often a hallmark of telomere syndromes, which are associated with increased cancer risk. Here, we summarize the molecular causes and cellular consequences of disease-causing mutations associated with telomere dysfunction.
authors.affiliation: DNA Damage Response Laboratory, Francis Crick Institute, South Mimms, UK.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Sarek
authors.affiliation: DNA Damage Response Laboratory, Francis Crick Institute, South Mimms, UK.
authors.forename: Paulina
authors.initials: P
authors.lastname: Marzec
authors.affiliation: DNA Damage Response Laboratory, Francis Crick Institute, South Mimms, UK.
authors.forename: Pol
authors.initials: P
authors.lastname: Margalef
authors.affiliation: DNA Damage Response Laboratory, Francis Crick Institute, South Mimms, UK.
authors.forename: Simon J
authors.initials: SJ
authors.lastname: Boulton
mesh_terms: D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005826:Genetics, Medical; D042822:Genomic Instability; D006801:Humans; D009154:Mutation; D016615:Telomere / Q000378:metabolism*; D059505:Telomere Homeostasis; D034501:Telomere-Binding Proteins / Q000235:genetics* / Q000378:metabolism*
chemical_list: D034501:Telomere-Binding Proteins