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Page 1
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, Heckenlively JR, Riazuddin SA, Frazer KA, Sieving PA, Ayyagari R. Chekuri A, et al. Among authors: soto hermida a. Hum Genet. 2018 Jul;137(6-7):447-458. doi: 10.1007/s00439-018-1897-9. Epub 2018 Jul 5. Hum Genet. 2018. PMID: 29978320 Free PMC article.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Biswas P, et al. Among authors: soto hermida a. PLoS Genet. 2021 Oct 18;17(10):e1009848. doi: 10.1371/journal.pgen.1009848. eCollection 2021 Oct. PLoS Genet. 2021. PMID: 34662339 Free PMC article.
Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.
Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R. Gustafson K, et al. Among authors: soto hermida a. Genes (Basel). 2017 Oct 23;8(10):286. doi: 10.3390/genes8100286. Genes (Basel). 2017. PMID: 29065517 Free PMC article.
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.
Chekuri A, Sahu B, Chavali VRM, Voronchikhina M, Soto-Hermida A, Suk JJ, Alapati AN, Bartsch DU, Ayala-Ramirez R, Zenteno JC, Dinculescu A, Jablonski MM, Borooah S, Ayyagari R. Chekuri A, et al. Among authors: soto hermida a. Hum Gene Ther. 2019 May;30(5):632-650. doi: 10.1089/hum.2018.192. Epub 2019 Jan 16. Hum Gene Ther. 2019. PMID: 30499344 Free PMC article.
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
Chekuri A, Zientara-Rytter K, Soto-Hermida A, Borooah S, Voronchikhina M, Biswas P, Kumar V, Goodsell D, Hayward C, Shaw P, Stanton C, Garland D, Subramani S, Ayyagari R. Chekuri A, et al. Among authors: soto hermida a. Aging Cell. 2019 Dec;18(6):e13011. doi: 10.1111/acel.13011. Epub 2019 Aug 5. Aging Cell. 2019. PMID: 31385385 Free PMC article.
Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease.
Manso AM, Hashem SI, Nelson BC, Gault E, Soto-Hermida A, Villarruel E, Brambatti M, Bogomolovas J, Bushway PJ, Chen C, Battiprolu P, Keravala A, Schwartz JD, Shah G, Gu Y, Dalton ND, Hammond K, Peterson K, Saftig P, Adler ED. Manso AM, et al. Among authors: soto hermida a. Sci Transl Med. 2020 Mar 18;12(535):eaax1744. doi: 10.1126/scitranslmed.aax1744. Sci Transl Med. 2020. PMID: 32188720
mtDNA haplogroup J modulates telomere length and nitric oxide production.
Fernández-Moreno M, Tamayo M, Soto-Hermida A, Mosquera A, Oreiro N, Fernández-López C, Fernández JL, Rego-Pérez I, Blanco FJ. Fernández-Moreno M, et al. BMC Musculoskelet Disord. 2011 Dec 15;12:283. doi: 10.1186/1471-2474-12-283. BMC Musculoskelet Disord. 2011. PMID: 22171676 Free PMC article.
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