Gerard P Zambetti
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Explore the profile of Gerard P Zambetti including associated specialties, affiliations and a list of published articles.
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84
Citations
4202
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Recent Articles
1.
ONeill A, Ribeiro R, Pinto E, Clay M, Zambetti G, Orr B, et al.
Cancer Manag Res
. 2024 Sep;
16:1141-1153.
PMID: 39263332
Adrenocortical tumors (ACTs) are infrequent neoplasms in children and adolescents and are typically associated with clinical symptoms reflective of androgen overproduction. Pediatric ACTs typically occur in the context of a...
2.
Murphy A, Cheng C, Williams J, Shaw T, Pinto E, Dieseldorff-Jones K, et al.
Nat Commun
. 2023 Dec;
14(1):8006.
PMID: 38110397
Developing synchronous bilateral Wilms tumor suggests an underlying (epi)genetic predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or genome sequencing (n = 85 tumors from 61...
3.
Pinto E, Ribeiro E, Wang J, Phillips A, Kriwacki R, Zambetti G
Cold Spring Harb Mol Case Stud
. 2023 Dec;
9(4).
PMID: 38050059
plays a critical role as a tumor suppressor by controlling cell cycle progression, DNA repair, and apoptosis. Post-translational modifications such as acetylation of specific lysine residues in the DNA binding...
4.
Pichavaram P, Jablonowski C, Fang J, Fleming A, Gil H, Boghossian A, et al.
Mol Cancer Ther
. 2023 Nov;
23(4):478-491.
PMID: 37988559
The histone lysine demethylases KDM4A-C are involved in physiologic processes including stem cell identity and self-renewal during development, DNA damage repair, and cell-cycle progression. KDM4A-C are overexpressed and associated with...
5.
Pinto E, Fridman C, Figueiredo B, Salvador H, Teixeira M, Pinto C, et al.
HGG Adv
. 2023 Oct;
5(1):100244.
PMID: 37794678
The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation...
6.
Murphy A, Cheng C, Williams J, Shaw T, Pinto E, Dieseldorff-Jones K, et al.
Res Sq
. 2023 Mar;
PMID: 36993649
This study comprehensively evaluated the landscape of genetic and epigenetic events that predispose to synchronous bilateral Wilms tumor (BWT). We performed whole exome or whole genome sequencing, total-strand RNA-seq, and...
7.
Gerber V, Paraizo M, Ibanez H, Casali-da-Rocha J, Pinto E, Andrade D, et al.
Cancers (Basel)
. 2022 Jun;
14(12).
PMID: 35740679
Two major concerns associated with cancer development in Paraná state, South Brazil, are environmental pollution and the germline TP53 p.R337H variant found in 0.27−0.30% of the population. We assessed breast...
8.
Jablonowski C, Gil H, Pinto E, Pichavaram P, Fleming A, Clay M, et al.
Cancers (Basel)
. 2022 Apr;
14(7).
PMID: 35406427
Increased mRNA is associated with disease relapse in favorable histology Wilms tumor (WT). This study sought to understand the mechanism of increased expression by determining the association between and WT1...
9.
Pinto E, Rodriguez-Galindo C, Lam C, Ruiz R, Zambetti G, Ribeiro R
Front Endocrinol (Lausanne)
. 2021 Nov;
12:756523.
PMID: 34803919
Pediatric adrenocortical tumors (ACTs) are rare and heterogeneous. Approximately 50% of children with ACT carry a germline variant; however, the genetic underpinning of remaining cases has not been elucidated. In...
10.
Pinto E, Maxwell K, Halalsheh H, Phillips A, Powers J, MacFarland S, et al.
Mol Cancer Res
. 2021 Oct;
20(2):207-216.
PMID: 34675114
Germline splicing variants are uncommon, and their clinical relevance is unknown. However, splice-altering variants at exon 4-intron 4 junctions are relatively enriched in pediatric adrenocortical tumors (ACT). Nevertheless, family histories...