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Increased insulin sensitivity and diminished pancreatic beta-cell function in DNA repair deficient Ercc1d/- mice.
61
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Huerta Guevara AP...Kruit JK
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33493548 |
2021 |
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Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman.
61
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Yu PT...Lo FI
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33369179 |
2021 |
| 3 |
Severe metabolic disorders coexisting with Werner syndrome: a case report.
61
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Li H...Cai H
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33087645 |
2021 |
| 4 |
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.
61
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Kandhaya-Pillai R...Oshima J
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33428109 |
2021 |
| 5 |
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.
61
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D'Apice MR...Novelli G
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33458588 |
2020 |
| 6 |
Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.
61
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Temel SG...Bertelli M
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32555393 |
2020 |
| 7 |
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.
61
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Zanette V...Zeviani M
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33134517 |
2020 |
| 8 |
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders.
61
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Hennekam RCM
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32791128 |
2020 |
| 9 |
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
61
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Hussain I...Garg A
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32939435 |
2020 |
| 10 |
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.
61
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Magno S...Santini F
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32913962 |
2020 |
| 11 |
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?
61
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Legue J...van Brakel TJ
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32355952 |
2020 |
| 12 |
A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.
61
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Garg A...Agarwal AK
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32803092 |
2020 |
| 13 |
Mitochondrial Dysfunction, Oxidative Stress, and Neuroinflammation: Intertwined Roads to Neurodegeneration.
61
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Picca A...Marzetti E
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32707949 |
2020 |
| 14 |
Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders.
61
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Muthu ML...Reinhardt DP
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32279186 |
2020 |
| 15 |
Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome.
61
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Kohler F...Rodriguez-Paredes M
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32450911 |
2020 |
| 16 |
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
61
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Beauregard-Lacroix E...Campeau PM
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31695177 |
2020 |
| 17 |
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
61
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Palmieri F...Monne M
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32340404 |
2020 |
| 18 |
Energy Regulation Mechanism and Therapeutic Potential of Asprosin.
61
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Hoffmann JG...Chopra AR
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32198197 |
2020 |
| 19 |
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
61
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Mosbah H...Vigouroux C
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32245113 |
2020 |
| 20 |
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report.
61
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Jiajue R...Xia W
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31807803 |
2020 |
| 21 |
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.
61
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Fukaishi T...Yamada T
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31708526 |
2020 |
| 22 |
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis.
61
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Zhang J...Oshima J
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31750734 |
2020 |
| 23 |
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.
61
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Ryu J...Shin CH
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31775791 |
2019 |
| 24 |
ATP-based therapy prevents vascular calcification and extends longevity in a mouse model of Hutchinson-Gilford progeria syndrome.
61
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Villa-Bellosta R
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31690656 |
2019 |
| 25 |
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.
61
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He G...Wang G
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31270292 |
2019 |
| 26 |
Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome.
61
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Schultz B...Maguiness S
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31378009 |
2019 |
| 27 |
Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes.
61
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Maierhofer A...Haaf T
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31259468 |
2019 |
| 28 |
The Shape of Mitochondrial Dysfunction in Down Syndrome.
61
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Zamponi E...Helguera PR
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30830726 |
2019 |
| 29 |
Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies.
61
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Franceschi C...Salvioli S
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30768754 |
2019 |
| 30 |
Growing Old Too Fast: A Rare Case of Werner Syndrome.
61
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Kaur A...Barthel B
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31363425 |
2019 |
| 31 |
Special-needs patients in pediatric dentistry: Progeroid syndrome. A case of dental management and oral rehabilitation.
61
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Cagetti MG...Moretti GM
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31214300 |
2019 |
| 32 |
Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome.
61
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Pignolo RJ...Kaplan FS
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31998237 |
2019 |
| 33 |
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
61
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Lessel D...Gordon LB
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30450527 |
2018 |
| 34 |
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
61
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Wambach JA...Garg A
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30414627 |
2018 |
| 35 |
A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.
61
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Huang YW...Lin DS
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30574417 |
2018 |
| 36 |
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
61
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Rodriguez-Garcia ME...Martinez-Azorin F
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30329211 |
2018 |
| 37 |
Fisetin is a senotherapeutic that extends health and lifespan.
61
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Yousefzadeh MJ...Niedernhofer LJ
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30279143 |
2018 |
| 38 |
RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.
61
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Oshima J...Yokote K
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29752965 |
2018 |
| 39 |
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
61
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Hussain I...Garg A
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29267953 |
2018 |
| 40 |
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
61
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Mori T...Oshima J
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29105242 |
2018 |
| 41 |
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
61
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Sasaki H...Kaname T
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29199204 |
2018 |
| 42 |
Modeling Alzheimer's disease in progeria mice. An age-related concept.
61
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Sharma K...Ladiges W
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30319737 |
2018 |
| 43 |
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.
61
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Wang LR...Hegele RA
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30023403 |
2018 |
| 44 |
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.
61
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Sahinoz M...Oral EA
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29610677 |
2018 |
| 45 |
The Continuum of Aging and Age-Related Diseases: Common Mechanisms but Different Rates.
61
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Franceschi C...Salvioli S
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29662881 |
2018 |
| 46 |
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
61
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Wang X...Chen D
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29057985 |
2017 |
| 47 |
Dysfunction of the MDM2/p53 axis is linked to premature aging.
61
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Lessel D...Kubisch C
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28846075 |
2017 |
| 48 |
Identification of HSP90 inhibitors as a novel class of senolytics.
61
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Fuhrmann-Stroissnigg H...Robbins PD
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28871086 |
2017 |
| 49 |
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome.
61
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Yamaga M...Yokote K
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28394436 |
2017 |
| 50 |
Werner syndrome: a model for sarcopenia due to accelerated aging.
61
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Yamaga M...Yokote K
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28738022 |
2017 |
Developmental anomalies during embryogenesis 
