Below are the most recent publications written about "Heterozygote" by people in Profiles.
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Serrano-Gonz?lez J, Montes-Rodr?guez I, Renta JY, Rojas R, Cadilla CL. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Mol Genet Genomic Med. 2024 Jul; 12(7):e2493.
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Bononi A, Wang Q, Zolondick AA, Bai F, Steele-Tanji M, Suarez JS, Pastorino S, Sipes A, Signorato V, Ferro A, Novelli F, Kim JH, Minaai M, Takinishi Y, Pellegrini L, Napolitano A, Xu R, Farrar C, Goparaju C, Bassi C, Negrini M, Pagano I, Sakamoto G, Gaudino G, Pass HI, Onuchic JN, Yang H, Carbone M. BAP1 is a novel regulator of HIF-1a. Proc Natl Acad Sci U S A. 2023 01 24; 120(4):e2217840120.
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Novelli F, Bononi A, Wang Q, Bai F, Patergnani S, Kricek F, Haglund E, Suarez JS, Tanji M, Xu R, Takanishi Y, Minaai M, Pastorino S, Morris P, Sakamoto G, Pass HI, Barbour H, Gaudino G, Giorgi C, Pinton P, Onuchic JN, Yang H, Carbone M. BAP1 forms a trimer with HMGB1 and HDAC1 that modulates gene ? environment interaction with asbestos. Proc Natl Acad Sci U S A. 2021 11 30; 118(48).
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Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency. Sci Immunol. 2021 06 18; 6(60).
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Bononi A, Goto K, Ak G, Yoshikawa Y, Emi M, Pastorino S, Carparelli L, Ferro A, Nasu M, Kim JH, Suarez JS, Xu R, Tanji M, Takinishi Y, Minaai M, Novelli F, Pagano I, Gaudino G, Pass HI, Groden J, Grzymski JJ, Metintas M, Akarsu M, Morrow B, Hassan R, Yang H, Carbone M. Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma. Proc Natl Acad Sci U S A. 2020 12 29; 117(52):33466-33473.
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Reyes-Nava NG, Yu HC, Coughlin CR, Shaikh TH, Quintana AM. Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish. Biol Open. 2020 04 13; 9(4).
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Noll JM, Li Y, Distel TJ, Ford GD, Ford BD. Neuroprotection by Exogenous and Endogenous Neuregulin-1 in Mouse Models of Focal Ischemic Stroke. J Mol Neurosci. 2019 Oct; 69(2):333-342.
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Davy PMC, Willcox DC, Shimabukuro M, Donlon TA, Torigoe T, Suzuki M, Higa M, Masuzaki H, Sata M, Chen R, Murkofsky RL, Morris BJ, Lim E, Allsopp RC, Willcox BJ. Minimal Shortening of Leukocyte Telomere Length Across Age Groups in a Cross-Sectional Study for Carriers of a Longevity-Associated FOXO3 Allele. J Gerontol A Biol Sci Med Sci. 2018 10 08; 73(11):1448-1452.
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Hyacinth HI, Carty CL, Seals SR, Irvin MR, Naik RP, Burke GL, Zakai NA, Wilson JG, Franceschini N, Winkler CA, David VA, Kopp JB, Judd SE, Adams RJ, Longstreth WT, Egede L, Lackland DT, Taylor H, Manson JE, Howard V, Allison M, Gee BE, Correa A, Safford MM, Arnett DK, Howard G, Reiner AP, Cushman M. Association of Sickle Cell Trait With Ischemic Stroke Among African Americans: A Meta-analysis. JAMA Neurol. 2018 07 01; 75(7):802-807.
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Glazier VE, Murante T, Koselny K, Murante D, Esqueda M, Wall GA, Wellington M, Hung CY, Kumar A, Krysan DJ. Systematic Complex Haploinsufficiency-Based Genetic Analysis of Candida albicans Transcription Factors: Tools and Applications to Virulence-Associated Phenotypes. G3 (Bethesda). 2018 03 28; 8(4):1299-1314.