Below are the most recent publications written about "Heterozygote" by people in Profiles.
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Bereshneh AH, Wilson KA, Pan X, Hannan SB, Cooper MA, Diaz J, Leon E, Moses TM, Azamian MS, Scott DA, Billie Au PY, Appendino JP, Scheffer IE, Kaspi A, Bahlo M, Hildebrand MS, Morgan AT, Ekure E, Shulman JM, Hildebrandt F, Posey JE, Kruszka P, Vilain E, Yamamoto S, Kanca O, Berger S, Bellen HJ. Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genet Med. 2026 Apr; 28(4):101685.
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Chandrakasan S, Westbrook A, Griffith LM, Hagin D, Iyengar S, Mangurian C, Scalchunes C, Sullivan KE, Zablocki A, Bakshi N, Sinha C, Burroughs LM, Chan AY, Dvorak CC, Haddad E, Heimall J, Kohn DB, Leiding JW, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Marsh RA, Torgerson T, Cowan MJ, Ochs HD, Parikh S. Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers. Clin Immunol. 2026 Feb; 283:110658.
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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 11; 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.