Below are the most recent publications written about "Heterozygote" by people in Profiles.
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Carbone M, Minaai M, Kittaneh M, Krausz T, Miettinen MM, Pan Hammarstr?m Q, Hammarstr?m L, Abolhassani H, Pagano I, Xu R, Novelli F, Gaudino G, Pastorino S, Sarin KY, Ripley RT, Pass HI, Schrump DS, Yang H. Clinical and Pathologic Phenotyping of Mesotheliomas Developing in Carriers of Germline BAP1 Mutations. J Thorac Oncol. 2025 Nov; 20(11):1683-1698.
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Burke SL, Grudzien A, Li T, Garcia S, Martinez SS, Jurich E, Jimenez DR, Hern?ndez J, Liu Q, Tyrell TA, Campa AL, Johnson A, Bursac Z, Baum MK. Substance use moderates relationships between apolipoprotein E genotype, hepatitis C, cognition, and depression in Miami Adult Studies on HIV (MASH) participants. J Neurovirol. 2024 12; 30(5-6):500-512.
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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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Mizuno N, Kume K, Nagatani Y, Matsuda S, Iwata T, Ouhara K, Kajiya M, Takeda K, Matsuda Y, Tada Y, Ohsawa R, Morino H, Mihara K, Fujita T, Kawaguchi H, Shiba H, Kawakami H, Kurihara H. Aggressive periodontitis and NOD2 variants. J Hum Genet. 2020 Oct; 65(10):841-846.
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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.