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Derek M Pavelec

Explore the profile of Derek M Pavelec including associated specialties, affiliations and a list of published articles. Areas
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Articles 13
Citations 726
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Recent Articles
1.
Heilmann J, Hall A, Legare J, Rice G, Seaborg K, Pavelec D, et al.
WMJ . 2025 Feb; 123(6):619-624. PMID: 39908527
Introduction: The University of Wisconsin Undiagnosed Disease Program employs a "beyond the exome" approach to diagnose rare disease patients. Case Presentations: We present 2 cases of rare neurodevelopmental disorders identified...
2.
McLean D, Meudt J, Lopez Rivera L, Schomberg D, Pavelec D, Duellman T, et al.
Front Oncol . 2023 Oct; 13:1253659. PMID: 37817770
Neurofibromatosis Type 1 (NF1) is one of the most common genetically inherited disorders that affects 1 in 3000 children annually. Clinical manifestations vary widely but nearly always include the development...
3.
Schwartz P, Walcheck M, Nukaya M, Pavelec D, Matkowskyj K, Ronnekleiv-Kelly S
Chronobiol Int . 2023 Mar; 40(4):417-437. PMID: 36912021
Misalignment of the circadian clock compared to environmental cues causes circadian desynchrony, which is pervasive in humans. Clock misalignment can lead to various pathologies including obesity and diabetes, both of...
4.
Chu Y, Zhong W, Rehrauer W, Pavelec D, Ong I, Arjang D, et al.
Am J Clin Pathol . 2019 Oct; 153(3):303-314. PMID: 31628837
Objectives: To review rare cases of BK polyomavirus (BKPyV) associated urologic carcinomas in kidney transplant recipients at one institution and in the literature. Methods: We describe the clinicopathologic features of...
5.
Miller K, Clark J, Martin S, Howell P, Burhans M, Haws S, et al.
Aging Cell . 2019 Jul; 18(5):e12999. PMID: 31267675
Deleterious changes in energy metabolism have been linked to aging and disease vulnerability, while activation of mitochondrial pathways has been linked to delayed aging by caloric restriction (CR). The basis...
6.
Kurtycz D, Barkan G, Pavelec D, Rosenthal D, Wojcik E, VandenBussche C, et al.
J Am Soc Cytopathol . 2019 May; 7(4):174-184. PMID: 31043274
Objectives: In concert with the 2015 publication of The Paris System for Urinary Cytopathology (TPS), a Web-based interobserver study, co-sponsored by the American Society of Cytopathology (ASC) and International Academy...
7.
Vasiljevic E, Ye Z, Pavelec D, Darst B, Engelman C, Baker M
Genet Med . 2019 Mar; 21(9):1969-1976. PMID: 30846882
Purpose: We aimed to estimate the carrier frequency of Zellweger spectrum disorder (ZSD), a rare autosomal recessive disease, and the associated disease incidence based on data from the Exome Aggregation...
8.
Rhoads T, Burhans M, Chen V, Hutchins P, Rush M, Clark J, et al.
Cell Metab . 2018 Mar; 27(3):677-688.e5. PMID: 29514073
Caloric restriction (CR) extends lifespan and delays the onset of age-related disorders in diverse species. Metabolic regulatory pathways have been implicated in the mechanisms of CR, but the molecular details...
9.
Kloss B, Tompson S, Whisenhunt K, Quow K, Huang S, Pavelec D, et al.
Invest Ophthalmol Vis Sci . 2017 Apr; 58(4):1982-1990. PMID: 28384719
Purpose: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Methods: Select individuals from 14 large Caucasian families with high myopia were...
10.
Guang S, Bochner A, Burkhart K, Burton N, Pavelec D, Kennedy S
Nature . 2010 Jun; 465(7301):1097-101. PMID: 20543824
Eukaryotic cells express a wide variety of endogenous small regulatory RNAs that regulate heterochromatin formation, developmental timing, defence against parasitic nucleic acids and genome rearrangement. Many small regulatory RNAs are...