Below are the most recent publications written about "Homozygote" by people in Profiles.
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Bhattarai D, Banday AZ, Patra PK, Baral R, Chaudhry C, Girisha KM, Walter JE, Narasimhan G, Neven B, Stray-Pedersen A, Sullivan KE. The c.64?+?2?T?>?A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis. Clin Rev Allergy Immunol. 2025 Jul 16; 68(1):64.
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Li D, Mailand N, Ewing E, Hoffmann S, Caswell RC, Pang L, Eason J, Dou Y, Sullivan KE, Hakonarson H, Levine MA. Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis. JCI Insight. 2025 Mar 24; 10(6).
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Benedetti F, Silvestri G, Saadat S, Denaro F, Latinovic OS, Davis H, Williams S, Bryant J, Ippodrino R, Rathinam CV, Gallo RC, Zella D. Mycoplasma DnaK increases DNA copy number variants in vivo. Proc Natl Acad Sci U S A. 2023 07 25; 120(30):e2219897120.
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Brun NR, Salanga MC, Mora-Zamorano FX, Lamb DC, Goldstone JV, Stegeman JJ. Orphan cytochrome P450 20a1 CRISPR/Cas9 mutants and neurobehavioral phenotypes in zebrafish. Sci Rep. 2021 12 13; 11(1):23892.
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Goyal V, DeVera C, Baba K, Sellers J, Chrenek MA, Iuvone PM, Tosini G. Photoreceptor Degeneration in Homozygous Male Per2luc Mice During Aging. J Biol Rhythms. 2021 04; 36(2):137-145.
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Avery JC, Yamazaki Y, Hoffmann FW, Folgelgren B, Hoffmann PR. Selenoprotein I is essential for murine embryogenesis. Arch Biochem Biophys. 2020 08 15; 689:108444.
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Adeyemo AA, Zaghloul NA, Chen G, Doumatey AP, Leitch CC, Hostelley TL, Nesmith JE, Zhou J, Bentley AR, Shriner D, Fasanmade O, Okafor G, Eghan B, Agyenim-Boateng K, Chandrasekharappa S, Adeleye J, Balogun W, Owusu S, Amoah A, Acheampong J, Johnson T, Oli J, Adebamowo C, Collins F, Dunston G, Rotimi CN. ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response. Nat Commun. 2019 07 19; 10(1):3195.
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Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY. A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. J Exp Med. 2019 06 03; 216(6):1255-1267.
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Wei C, Banu K, Garzon F, Basgen JM, Philippe N, Yi Z, Liu R, Choudhuri J, Fribourg M, Liu T, Cumpelik A, Wong J, Khan M, Das B, Keung K, Salem F, Campbell KN, Kaufman L, Cravedi P, Zhang W, O'Connell PJ, He JC, Murphy B, Menon MC. SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts. J Am Soc Nephrol. 2018 11; 29(11):2641-2657.
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Gordeuk VR, Brannon PM. Ethnic and genetic factors of iron status in women of reproductive age. Am J Clin Nutr. 2017 Dec; 106(Suppl 6):1594S-1599S.