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The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

Néstor–Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

Cabanillas, Rubén, Cadiñanos, Juan, Villameytide, José A.F., Pérez, Mercedes, Longo, Jesús, Richard, José M., Álvarez, Rebeca, Durán, Noelia S., Illán, Rafael, González, Daniel J., López‐Otín, Carlos·2011·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.34249
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Abstract

Progeria syndromes are rare disorders that involve premature aging. Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Néstor–Guillermo progeria syndrome (NGPS). We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., Hutchinson–Gilford progeria syndrome or mandibuloacral dysplasia), such as aged appearance, growth retardation, decreased subcutaneous fat, thin limbs, and stiff joints. However, these NGPS patients have a distinctive phenotype. In their early adulthood (32 and 24 years of age), they have no signs of cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia. In contrast, they suffer profound skeletal abnormalities that affect their quality of life. The observed differences are of utmost importance to patients and their families and palliation of osseous manifestations is a priority, given their relatively long lifespan. We define NGPS as a chronic progeria because of its slow clinical course and relatively long survival, despite its early onset. Understanding the differences between progeria syndromes might contribute to the development of treatment strategies for common skeletal conditions, as well as aging itself. © 2011 Wiley Periodicals, Inc.

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Crossref · 10.1002/ajmg.a.34249

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2 of 2 references verified0 citation errors · 0 not checkable

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  • Mutations in genes encoding protein components of the nuclear lamina, or factors affecting their maturation and dynamics, cause accelerated aging syndromes such as Hutchinson-Gilford and Néstor-Guillermo progeria syndromes.

    “The nuclear lamina attracted the attention of aging researchers after the discovery that mutations in genes encoding protein components of this structure, or factors affecting their maturation and dynamics, cause accelerated aging syndromes such as the Hutchinson-Gilford and the Néstor-Guillermo progeria syndromes (HGPS and NGPS, respectively) (Cabanillas et al., 2011; De Sandre-Giovannoli et al.,”

    From The Hallmarks of Aging (2013) · cites this paper as Cabanillas et al., 2011

Citations

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Research works printed but not linked: 27

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  18. 10.1056/NEJM200105103441904 · DOI · Paper page
  19. 10.1007/s11248-008-9226-z · DOI
  20. 10.1038/ng871 · DOI · Paper page
  21. 10.1016/j.ajhg.2011.04.010 · DOI
  22. 10.1007/s00018-006-6349-3 · DOI
  23. 10.1210/jc.2010-0419 · DOI
  24. 10.1002/jor.20420 · DOI
  25. 10.1080/01926230252929882 · DOI
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  27. 10.1172/JCI37679 · DOI

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Metadata

Authors
Cabanillas, R., Cadiñanos, J., Villameytide, J. A. F., Pérez, M., Longo, J., Richard, J. M., Álvarez, R., Durán, N. S., Illán, R., González, D. J., & López‐Otín, C.
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2011-09-19
Volume
155
Issue
11
Pages
2617-2625
ISSN
  • 1552-4825
  • 1552-4833
DOI
10.1002/ajmg.a.34249
Cited by
152
References
2
Language
en
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)

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