Below are the most recent publications written about "Heterozygote" by people in Profiles.
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Hengel H, Hannan SB, Reich S, Beijer D, Roller J, Gilsbach BK, Gloeckner CJ, Greene D, Timmann D, Depienne C, Mumford A, O'Driscoll M, Nemeth AH, Lundberg J, Rodan LH, Bruel AL, Delanne J, Deconinck T, Baets J, Gan-Or Z, Rouleau G, Suchowersky O, Estiar MA, Reich S, Toro C, Z?chner S, Hazan J, P?tursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Sch?ls L, Synofzik M. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Brain. 2025 Aug 01; 148(8):2812-2826.
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Yin J, Hayes KM, Ong MS, Mizgerd JP, Cunningham-Rundles C, Dominguez I, Barmettler S, Farmer JR, Maglione PJ. Common Variable Immunodeficiency Clinical Manifestations Are Shaped by Presence and Type of Heterozygous NFKB1 Variants. J Allergy Clin Immunol Pract. 2025 Mar; 13(3):639-646.
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Roy AJ, Leipprandt JR, Patterson JR, Stoll AC, Kemp CJ, Oula ZD, Mola T, Batista AR, Sortwell CE, Sena-Esteves M, Neubig RR. AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice. J Pharmacol Exp Ther. 2024 07 18; 390(2):250-259.
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Cassin J, Stamou MI, Keefe KW, Sung KE, Bojo CC, Tonsfeldt KJ, Rojas RA, Ferreira Lopes V, Plummer L, Salnikov KB, Keefe DL, Ozata M, Genel M, Georgopoulos NA, Hall JE, Crowley WF, Seminara SB, Mellon PL, Balasubramanian R. Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms. JCI Insight. 2023 02 08; 8(3).
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Java A, Pozzi N, Schroeder MC, Hu Z, Huan T, Seddon JM, Atkinson J. Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration. Hum Mol Genet. 2022 10 28; 31(21):3683-3693.
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Prokaeva T, Klimtchuk ES, Feschenko P, Spencer B, Cui H, Burks EJ, Aslebagh R, Muneeruddin K, Shaffer SA, Varghese E, Berk JL, Connors LH. An additive destabilising effect of compound T60I and V122I substitutions in ATTRv amyloidosis. Amyloid. 2023 Jun; 30(2):141-152.
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Lynch MT, Maloney KA, Pollin TI, Streeten EA, Puffenberger EG, Strauss KA, Shuldiner AR, Mitchell BD. Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County. Am J Med Genet A. 2022 07; 188(7):2119-2128.
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Straniero L, Rimoldi V, Monfrini E, Bonvegna S, Melistaccio G, Lake J, Sold? G, Aureli M, Keagle P, Foroud T, Landers JE, Blauwendraat C, Zecchinelli A, Cilia R, Di Fonzo A, Pezzoli G, Duga S, Asselta R. Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk. Mov Disord. 2022 06; 37(6):1202-1210.
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Ghosh AJ, Hobbs BD, Moll M, Saferali A, Boueiz A, Yun JH, Sciurba F, Barwick L, Limper AH, Flaherty K, Criner G, Brown KK, Wise R, Martinez FJ, Lomas D, Castaldi PJ, Carey VJ, DeMeo DL, Cho MH, Silverman EK, Hersh CP. Alpha-1 Antitrypsin MZ Heterozygosity Is an Endotype of Chronic Obstructive Pulmonary Disease. Am J Respir Crit Care Med. 2022 02 01; 205(3):313-323.
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Choi SH, Jurgens SJ, Haggerty CM, Hall AW, Halford JL, Morrill VN, Weng LC, Lagerman B, Mirshahi T, Pettinger M, Guo X, Lin HJ, Alonso A, Soliman EZ, Kornej J, Lin H, Moscati A, Nadkarni GN, Brody JA, Wiggins KL, Cade BE, Lee J, Austin-Tse C, Blackwell T, Chaffin MD, Lee CJ, Rehm HL, Roselli C, Redline S, Mitchell BD, Sotoodehnia N, Psaty BM, Heckbert SR, Loos RJF, Vasan RS, Benjamin EJ, Correa A, Boerwinkle E, Arking DE, Rotter JI, Rich SS, Whitsel EA, Perez M, Kooperberg C, Fornwalt BK, Lunetta KL, Ellinor PT, Lubitz SA. Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis. Circ Genom Precis Med. 2021 08; 14(4):e003300.