Below are the most recent publications written about "Alleles" by people in Profiles.
-
Iwanowicz A, Boudi A, Seeley C, Sapp E, Miller R, Liu S, Chase K, Shing K, Batista AR, Siena-Esteves M, Aronin N, DiFiglia M, Kegel-Gleason KB. Intrastriatal Delivery of a Zinc Finger Protein Targeting the Mutant HTT Gene Allele Obviates Lipid Phenotypes in Brain and Plasma in Huntington's Disease?Mice. Hum Gene Ther. 2025 Aug; 36(15-16):1083-1094.
-
Leone P, Nisco A, de Gennaro L, Tolomeo M, Lorefice E, Petrosillo G, Russo S, De Giovanni D, Catacchio CR, Lepri FR, Ventura M, Simonetti S, Tummolo A, Barile M. Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080). Am J Med Genet A. 2025 Dec; 197(12):e64188.
-
Patel SA, Khedr S, Gordon CD, Nuvvula S, Littman N, Woda B, Hutchinson L, Li S, Xie Y, Selove W, Cerny J, Gerber JM. Early identification of TP53 mutations and TP53 allelic state in myelodysplastic neoplasms and acute myeloid leukemia via point-of-care p53 immunohistochemistry. Cancer. 2025 Jul 01; 131(13):e35950.
-
Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB. Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. Am J Med Genet A. 2025 Apr; 197(4):e63940.
-
Blanchard MW, Sigmon JS, Brennan J, Ahulamibe C, Allen ME, Ardery S, Baric RS, Bell TA, Farrington J, Ciavatta D, Cruz Cisneros MC, Drushal M, Ferris MT, Fry RC, Gaines C, Gu B, Heise MT, Hock P, Hodges RA, Hulgin M, Kafri T, Lynch RM, Magnuson T, Miller DR, Murphy CEY, Nguyen DT, Noll KE, Proulx MK, Sassetti CM, Schoenrock SA, Shaw GD, Simon JM, Smith CM, Styblo M, Tarantino LM, Woo J, Pardo Manuel de Villena F. The updated mouse universal genotyping array bioinformatic pipeline improves genetic QC in laboratory mice. G3 (Bethesda). 2024 Oct 07; 14(10).
-
Gruntman AM, Xue W, Flotte TR. Approaches to Therapeutic Gene Editing in Alpha-1 Antitrypsin Deficiency. Methods Mol Biol. 2024; 2750:11-17.
-
Pourmorady AD, Bashkirova EV, Chiariello AM, Belagzhal H, Kodra A, Duffi? R, Kahiapo J, Monahan K, Pulupa J, Schieren I, Osterhoudt A, Dekker J, Nicodemi M, Lomvardas S. RNA-mediated symmetry breaking enables singular olfactory receptor choice. Nature. 2024 Jan; 625(7993):181-188.
-
Montenegro L, Seraphim C, Tinano F, Piovesan M, Canton APM, McElreavey K, Brabant S, Boris NP, Magnuson M, Carroll RS, Kaiser UB, Argente J, Barrios V, Brito VN, Brauner R, Latronico AC. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels. Eur J Endocrinol. 2023 Sep 01; 189(3):422-428.
-
Muriuki BM, Forconi CS, Kirwa EK, Maina TK, Ariera BO, Bailey JA, Ghansah A, Moormann AM, Ong'echa JM. Evaluation of KIR3DL1/KIR3DS1 allelic polymorphisms in Kenyan children with endemic Burkitt lymphoma. PLoS One. 2023; 18(8):e0275046.
-
Shin M, Yin HM, Shih YH, Nozaki T, Portman D, Toles B, Kolb A, Luk K, Isogai S, Ishida K, Hanasaka T, Parsons MJ, Wolfe SA, Burns CE, Burns CG, Lawson ND. Generation and application of endogenously floxed alleles for cell-specific knockout in zebrafish. Dev Cell. 2023 11 20; 58(22):2614-2626.e7.