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Jean Ann Maguire

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Articles 36
Citations 384
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Recent Articles
1.
Wilken M, Fonar G, Qiu R, Bennett L, Tober J, Nations C, et al.
Stem Cell Reports . 2024 Aug; 19(9):1264-1276. PMID: 39214082
Tropomyosins coat actin filaments to impact actin-related signaling and cell morphogenesis. Genome-wide association studies have linked Tropomyosin 1 (TPM1) with human blood trait variation. TPM1 has been shown to regulate...
2.
Littleton S, Trang K, Volpe C, Cook K, DeBruyne N, Maguire J, et al.
Cell Genom . 2024 May; 4(5):100556. PMID: 38697123
The ch12q13 locus is among the most significant childhood obesity loci identified in genome-wide association studies. This locus resides in a non-coding region within FAIM2; thus, the underlying causal variant(s)...
3.
Gracia-Diaz C, Perdomo J, Khan M, Roule T, Disanza B, Cajka G, et al.
Cell Stem Cell . 2024 Mar; 31(3):288-289. PMID: 38458176
No abstract available.
4.
Pavani G, Klein J, Nations C, Sussman J, Tan K, An H, et al.
Blood Adv . 2024 Jan; 8(6):1449-1463. PMID: 38290102
During development, erythroid cells are produced through at least 2 distinct hematopoietic waves (primitive and definitive), generating erythroblasts with different functional characteristics. Human induced pluripotent stem cells (iPSCs) can be...
5.
Pham V, Sertori Finoti L, Cassidy M, Maguire J, Gagne A, Waxman E, et al.
Mol Genet Metab . 2023 Dec; 141(2):108116. PMID: 38161139
Multiple sulfatase deficiency (MSD) is an ultra-rare, inherited lysosomal storage disease caused by mutations in the gene sulfatase modifying factor 1 (SUMF1). MSD is characterized by the functional deficiency of...
6.
Wintering A, Hecht A, Meyer J, Wong E, Hubner J, Abelson S, et al.
Haematologica . 2023 Dec; 109(8):2533-2541. PMID: 38152053
Mutations in five canonical Ras pathway genes (NF1, NRAS, KRAS, PTPN11 and CBL) are detected in nearly 90% of patients with juvenile myelomonocytic leukemia (JMML), a frequently fatal malignant neoplasm...
7.
Wilken M, Fonar G, Nations C, Pavani G, Tsao V, Garifallou J, et al.
bioRxiv . 2023 Sep; PMID: 37693628
Tropomyosins coat actin filaments and impact actin-related signaling and cell morphogenesis. Genome-wide association studies have linked () with human blood trait variation. Prior work suggested that regulated blood cell formation...
8.
Littleton S, Trang K, Volpe C, Cook K, DeBruyne N, Maguire J, et al.
bioRxiv . 2023 Sep; PMID: 37662342
The ch12q13 obesity locus is among the most significant childhood obesity loci identified in genome-wide association studies. This locus resides in a non-coding region within ; thus, the underlying causal...
9.
Hashmi S, Schneider S, Gagne A, Maguire J, Anderson S, Gadue P, et al.
Stem Cell Res . 2023 Aug; 71:103186. PMID: 37643495
Dysfunction of visceral smooth muscle ("visceral myopathy") impairs bowel, bladder, and uterine function. Symptoms of this life-threatening condition include massive intestinal distension with slow transit, vomiting, feeding intolerance, growth failure,...
10.
Hashmi S, Schneider S, Gagne A, Maguire J, Gadue P, Heuckeroth R, et al.
Stem Cell Res . 2023 Aug; 71:103176. PMID: 37572398
Visceral myopathies are debilitating conditions characterized by dysfunction of smooth muscle in visceral organs (bowel, bladder, and uterus). Individuals affected by visceral myopathy experience feeding difficulties, growth failure, life-threatening abdominal...