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, Züchner S, Hazan J, Pétursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Schöls 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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Pappas I, Lohman T, Dutt S, Kapoor A, Engstrom AC, Alitin JPM, Barnes S, Chakhoyan A, Saca L, Gaggar R, Nourollahimoghadam E, Wang DJJ, Lai MHC, Joe EB, Ringman JM, Yassine HN, Schneider LS, Chui HC, Toga AW, Zlokovic BV, Nation DA. Cerebral hypoperfusion, brain structural integrity, and cognitive impairment in older APOE4 carriers. Geroscience. 2025 06; 47(3):4973-4986.
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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 03; 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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Kapoor A, Dutt S, Alitin JPM, Sible IJ, Marshall A, Shenasa F, Engstrom AC, Gaubert A, Shao X, Bradford DR, Rodgers K, Mather M, Wang DJJ, Nation DA. Older adults with reduced cerebrovascular reactivity exhibit high white matter hyperintensity burden. Neurobiol Aging. 2024 07; 139:5-10.
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Barbash DA, Jin B, Wei KHC, Dion-Côté AM. Testing a candidate meiotic drive locus identified by pool sequencing. G3 (Bethesda). 2023 11 01; 13(11).
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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.