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Pathophysiology of premature aging characteristics in Mendelian progeroid disorders
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“Thus, alterations in DNA repair mechanisms accelerate aging in mice and underlie several human progeroid syndromes 12 .”
From Hallmarks of aging: An expanding universe (2023) · cites this paper as [12]
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López-Otín, C., Blasco, M. A., Partridge, L., Serrano, M., & Kroemer, G. (2013) · Cell · doi:10.1016/j.cell.2013.05.039 · Cited by 14,982
Understanding nucleotide excision repair and its roles in cancer and ageing
Marteijn, J. A., Lans, H., Vermeulen, W., & Hoeijmakers, J. H. J. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3822 · Cited by 1,192
World Population Prospects: Data Booklet - 2015 Revision
United Nations Department of Economic and Social Affairs (2016) · doi:10.18356/a3bacd57-en · Cited by 410
Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice
Vermeij, W. P., Dollé, M. E. T., Reiling, E., Jaarsma, D., Payan-Gomez, C., Bombardieri, C. R., Wu, H., Roks, A. J. M., Botter, S. M., van der Eerden, B. C., et al. (2016) · Nature · doi:10.1038/nature19329 · Cited by 315
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
Chen, R., Shi, L., Hakenberg, J., Naughton, B., Sklar, P., Zhang, J., Zhou, H., Tian, L., Prakash, O., Lemire, M., et al. (2016) · Nature Biotechnology · doi:10.1038/nbt.3514 · Cited by 310
Garinis, G. A., Uittenboogaard, L. M., Stachelscheid, H., Fousteri, M., van Ijcken, W., Breit, T. M., van Steeg, H., Mullenders, L. H. F., van der Horst, G. T. J., Brüning, J. C., et al. (2009) · Nature Cell Biology · doi:10.1038/ncb1866 · Cited by 138
Research works printed but not linked: 40
- Alter, 2010, Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study, Br. J. Haematol., 150, 179, 10.1111/j.1365-2141.2010.08212.x · DOI
- Avila, 2016, Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management, Clin. Genet., 89, 501, 10.1111/cge.12688 · DOI
- Boycott, 2017, International cooperation to enable the diagnosis of all rare genetic diseases, Am. J. Hum. Genet., 100, 695, 10.1016/j.ajhg.2017.04.003 · DOI · Paper page
- Breinis, 2014, The eleventh reported case of Mulvihill-Smith syndrome in the literature, BMC Neurol., 14, 4, 10.1186/1471-2377-14-4 · DOI
- Cabanillas, 2011, Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations, Am. J. Med. Genet., 155A, 2617, 10.1002/ajmg.a.34249 · DOI · Paper page
- Calmels, 2018, Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome, J. Med. Genet., 55, 329, 10.1136/jmedgenet-2017-104877 · DOI
- Cunniff, 2017, Bloom syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition, Mol Syndromol, 8, 4, 10.1159/000452082 · DOI
- De Renty, 2017, Bloom syndrome: why not premature aging?: a comparison of the BLM and WRN helicases, Ageing Res. Rev., 33, 36, 10.1016/j.arr.2016.05.010 · DOI
- Dokal, 2011, Dyskeratosis congenita, Hematology Am Soc Hematol Educ Program, 2011, 480, 10.1182/asheducation-2011.1.480 · DOI
- Economos, 1982, Rate of aging, rate of dying and the mechanism of mortality, Arch. Gerontol. Geriatr., 1, 3, 10.1016/0167-4943(82)90003-6 · DOI
- Elouej, 2017, Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL), Metabolism, 71, 213, 10.1016/j.metabol.2017.03.011 · DOI
- Epstein, 1966, Werner syndrome: a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process, Medicine, 45, 177, 10.1097/00005792-196605000-00001 · DOI
- Fedichev, 2018, Hacking aging: a strategy to use big data from medical studies to extend human life, Front. Genet., 9, 483, 10.3389/fgene.2018.00483 · DOI
- Fischer-Zirnsak, 2015, Recurrent de novo mutations affecting residue Arg138 of Pyrroline-5-Carboxylate Synthase cause a progeroid form of autosomal-dominant cutis laxa, Am. J. Hum. Genet., 97, 483, 10.1016/j.ajhg.2015.08.001 · DOI
- Garavelli, 2009, Mandibuloacral dysplasia type A in childhood, Am. J. Med. Genet., 149A, 2258, 10.1002/ajmg.a.33005 · DOI
- Gilford, 1897, On a condition of mixed premature and immature development, Med Chirurg Trans, 80, 17, 10.1177/095952879708000105 · DOI
- Gordon, 2014, Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome, Circulation, 1130, 27, 10.1161/CIRCULATIONAHA.113.008285 · DOI
- Hebbring, 2019, Genomic and phenomic research in the 21th century, Trends Genet., 35, 29, 10.1016/j.tig.2018.09.007 · DOI
- Hennekam, 2006, Hutchinson-Gilford progeria syndrome: review of the phenotype, Am. J. Med. Genet., 140A, 2603, 10.1002/ajmg.a.31346 · DOI
- Hennekam, 2020, The external phenotype of aging, Eur. J. Med. Genet., 10.1016/j.ejmg.2020.103995 · DOI
- Hennekam, 2012, Next generation sequencing demands next generation phenotyping, Hum. Mutat., 33, 884, 10.1002/humu.22048 · DOI
- Hoeijmakers, 2009, DNA damage, aging, and cancer, N. Engl. J. Med., 361, 1475, 10.1056/NEJMra0804615 · DOI · Paper page
- Huang, 2006, The spectrum of WRN mutations in Werner syndrome patients, Hum. Mutat., 27, 558, 10.1002/humu.20337 · DOI
- Johnston, 2015, A Point mutation in PDGFRB causes autosomal-dominant Penttinen syndrome, Am. J. Hum. Genet., 97, 465, 10.1016/j.ajhg.2015.07.009 · DOI
- Kaplanis, 2018, Quantitative analysis of population-scale family trees with millions of relatives, Science, 360, 171, 10.1126/science.aam9309 · DOI · Paper page
- Köhler, 2017, The human phenotype ontology in 2017, Nucleic Acids Res., 45, D865, 10.1093/nar/gkw1039 · DOI
- Lessel, 2020, Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies, Hum. Genet., 139, 483, 10.1007/s00439-019-02105-6 · DOI
- Martin, 1978, Genetic syndromes in man with potential relevance to the pathobiology of aging, Birth Defects OAS, 14, 5
- Martin, 2005, Genetic modulation of senescent phenotypes in Homo sapiens, Cell, 120, 523, 10.1016/j.cell.2005.01.031 · DOI
- Nance, 1992, Cockayne syndrome: review of 140 cases, Am. J. Med. Genet., 42, 68, 10.1002/ajmg.1320420115 · DOI · Paper page
- Niedernhofer, 2006, A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis, Nature, 444, 1038, 10.1038/nature05456 · DOI · Paper page
- Paolacci, 2017, Wiedemann-Rautenstrauch syndrome: a phenotype analysis, Am. J. Med. Genet., 173A, 1763, 10.1002/ajmg.a.38246 · DOI
- Passarelli, 2018, Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome: a literature review on this rare progeroid pathology, Medicine (Baltim.), 97
- Passarge, 2016, Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy, Eur. J. Hum. Genet., 24, 1244, 10.1038/ejhg.2016.6 · DOI
- Ruby, 2018, Estimates of the heritability of human longevity are substantially inflated due to assortative mating, Genetics, 210, 1109, 10.1534/genetics.118.301613 · DOI · Paper page
- Shastry, 2010, A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism, J. Clin. Endocrinol. Metab., 95, E192, 10.1210/jc.2010-0419 · DOI
- van der Pluijm, 2007, Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome, PLoS Biol., 5, e2, 10.1371/journal.pbio.0050002 · DOI
- Winter, 1987, The London Dysmorphology database, J. Med. Genet., 24, 509, 10.1136/jmg.24.8.509 · DOI
- Writzl, 2017, De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face and early demise, Am. J. Hum. Genet., 101, 844, 10.1016/j.ajhg.2017.09.017 · DOI
- Xu, 2018, Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome, Am. J. Hum. Genet., 103, 976, 10.1016/j.ajhg.2018.10.013 · DOI
Cited by
Sorted by citations
Hallmarks of aging: An expanding universe
López-Otín, C., Blasco, M. A., Partridge, L., Serrano, M., & Kroemer, G. (2023) · Cell · doi:10.1016/j.cell.2022.11.001 · Cited by 6,549
Meta-hallmarks of aging and cancer
López-Otín, C., Pietrocola, F., Roiz-Valle, D., Galluzzi, L., & Kroemer, G. (2023) · Cell Metabolism · doi:10.1016/j.cmet.2022.11.001 · Cited by 529
Metadata
- Authors
- Hennekam, R. C. M.
- Venue
- European Journal of Medical Genetics
- Publisher
- Elsevier BV
- Published
- 2020-11
- Volume
- 63
- Issue
- 11
- Pages
- 104028
- ISSN
- 1769-7212
- Cited by
- 34
- References
- 6
- Language
- en
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