Wayne A Cabral
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Explore the profile of Wayne A Cabral including associated specialties, affiliations and a list of published articles.
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48
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2394
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Recent Articles
1.
Blouin S, Hartmann M, Fratzl-Zelman N, Messmer P, Whisenant D, Erdos M, et al.
Aging Dis
. 2024 Nov;
PMID: 39571160
Hutchison-Gilford progeria syndrome (HGPS) is a rare genetic disease caused by a mutation in LMNA, the gene encoding A-type lamins, leading to premature aging with severely reduced life span. HGPS...
2.
Beeram I, Cubria M, Kamalapathy P, Yeritsyan D, Dubose A, Hedayatzadeh Razavi A, et al.
Front Physiol
. 2024 Nov;
15:1481985.
PMID: 39568542
Introduction: Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging, impacting multiple organ systems, including cardiovascular, musculoskeletal, and integumentary. Significant abnormalities in a transgenic mouse model...
3.
Vakili S, Izydore E, Losert L, Cabral W, Tavarez U, Shores K, et al.
Aging Cell
. 2024 Oct;
24(2):e14375.
PMID: 39422121
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder in children caused by a point mutation in the lamin A gene, resulting in a toxic form of lamin A...
4.
Cabral W, Stephan C, Terajima M, Thaivalappil A, Blanchard O, Tavarez U, et al.
Aging Cell
. 2023 Jun;
22(9):e13903.
PMID: 37365004
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder affecting tissues of mesenchymal origin. Most individuals with HGPS harbor a de novo c.1824C > T (p.G608G) mutation in the gene...
5.
Cabral W, Tavarez U, Beeram I, Yeritsyan D, Boku Y, Eckhaus M, et al.
Aging Cell
. 2021 Aug;
20(9):e13457.
PMID: 34453483
Hutchinson-Gilford progeria syndrome (HGPS) is a rare accelerated aging disorder most notably characterized by cardiovascular disease and premature death from myocardial infarction or stroke. The majority of cases are caused...
6.
Erdos M, Cabral W, Tavarez U, Cao K, Gvozdenovic-Jeremic J, Narisu N, et al.
Nat Med
. 2021 Mar;
27(3):536-545.
PMID: 33707773
Hutchinson-Gilford progeria syndrome (HGPS) is a rare accelerated aging disorder characterized by premature death from myocardial infarction or stroke. It is caused by de novo single-nucleotide mutations in the LMNA...
7.
Koblan L, Erdos M, Wilson C, Cabral W, Levy J, Xiong Z, et al.
Nature
. 2021 Jan;
589(7843):608-614.
PMID: 33408413
Hutchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative C•G-to-T•A mutation (c.1824 C>T; p.G608G) in LMNA, the gene that encodes nuclear lamin A. This mutation causes RNA...
8.
Cubria M, Suarez S, Masoudi A, Oftadeh R, Kamalapathy P, DuBose A, et al.
Proc Natl Acad Sci U S A
. 2020 May;
117(22):12029-12040.
PMID: 32404427
Hutchinson-Gilford progeria syndrome (HGPS) is a uniformly fatal condition that is especially prevalent in skin, cardiovascular, and musculoskeletal systems. A wide gap exists between our knowledge of the disease and...
9.
Kang H, Jha S, Ivovic A, Fratzl-Zelman N, Deng Z, Mitra A, et al.
J Exp Med
. 2020 Apr;
217(5).
PMID: 32232430
Melorheostosis is a rare sclerosing dysostosis characterized by asymmetric exuberant bone formation. Recently, we reported that somatic mosaicism for MAP2K1-activating mutations causes radiographical "dripping candle wax" melorheostosis. We now report...
10.
Cabral W, Fratzl-Zelman N, Weis M, Perosky J, Alimasa A, Harris R, et al.
Matrix Biol
. 2020 Mar;
90:20-39.
PMID: 32112888
Null mutations in CRTAP or P3H1, encoding cartilage-associated protein and prolyl 3-hydroxylase 1, cause the severe bone dysplasias, types VII and VIII osteogenesis imperfecta. Lack of either protein prevents formation...