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Timothy Nottoli

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Articles 28
Citations 578
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Recent Articles
1.
Leem J, Lemonnier T, Khutsaidze A, Tian L, Xing X, Bai S, et al.
bioRxiv . 2025 Mar; PMID: 40060401
Female reproductive aging is accompanied by a dramatic rise in the incidence of egg aneuploidy. Premature loss of chromosome cohesion proteins and untimely separation of chromosomes is thought to underly...
2.
Jang I, Kruglov V, Cholensky S, Smith D, Carey A, Bai S, et al.
bioRxiv . 2024 Oct; PMID: 39386655
Age-related susceptibility to sepsis and endotoxemia is poorly defined, although hyperactivation of the immune system and the expansion of the visceral adipose as an immunological reservoir are underlying features. Macrophages...
3.
Uebbing S, Kocher A, Baumgartner M, Ji Y, Bai S, Xing X, et al.
Mol Biol Evol . 2024 Sep; 41(10). PMID: 39302728
Transcriptional enhancers orchestrate cell type- and time point-specific gene expression programs. Genetic variation within enhancer sequences is an important contributor to phenotypic variation including evolutionary adaptations and human disease. Certain...
4.
Yim K, Baumgartner M, Krenzer M, Rosales Larios M, Hill-Teran G, Nottoli T, et al.
bioRxiv . 2024 Aug; PMID: 39185167
Disruptive variants in the chromodomain helicase , which acts as a transcriptional regulator during neurodevelopment, are strongly associated with risk for autism spectrum disorder (ASD). Loss of CHD8 function is...
5.
Chanduri M, Kumar A, Weiss D, Emuna N, Barsukov I, Shi M, et al.
Sci Adv . 2024 Aug; 10(34):eadi6286. PMID: 39167642
Tissue mechanical properties are determined mainly by the extracellular matrix (ECM) and actively maintained by resident cells. Despite its broad importance to biology and medicine, tissue mechanical homeostasis remains poorly...
6.
Ishchenko Y, Jeng A, Feng S, Nottoli T, Manriquez-Rodriguez C, Nguyen K, et al.
bioRxiv . 2024 Aug; PMID: 39131289
Genetic variants in TRIO are associated with neurodevelopmental disorders (NDDs) including schizophrenia (SCZ), autism spectrum disorder (ASD) and intellectual disability. TRIO uses its two guanine nucleotide exchange factor (GEF) domains...
7.
Kocher A, Dutrow E, Uebbing S, Yim K, Rosales Larios M, Baumgartner M, et al.
Genome Biol . 2024 Jun; 25(1):156. PMID: 38872220
Background: Genetic changes that modify the function of transcriptional enhancers have been linked to the evolution of biological diversity across species. Multiple studies have focused on the role of nucleotide...
8.
Uebbing S, Kocher A, Baumgartner M, Ji Y, Bai S, Xing X, et al.
bioRxiv . 2024 Feb; PMID: 38352419
Transcriptional enhancers orchestrate cell type- and time point-specific gene expression programs. Evolution of enhancer sequences can alter target gene expression without causing detrimental misexpression in other contexts. It has long...
9.
Chanduri M, Kumar A, Weiss D, Emuna N, Barsukov I, Shi M, et al.
bioRxiv . 2024 Feb; PMID: 38328095
It is widely believed that tissue mechanical properties, determined mainly by the extracellular matrix (ECM), are actively maintained. However, despite its broad importance to biology and medicine, tissue mechanical homeostasis...
10.
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, et al.
Nat Commun . 2023 Nov; 14(1):7452. PMID: 37978175
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family...