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Items: 16

1.

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.

Aging Cell. 2019 Aug 5:e13011. doi: 10.1111/acel.13011. [Epub ahead of print]

2.

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.

Hum Gene Ther. 2019 May;30(5):632-650. doi: 10.1089/hum.2018.192. Epub 2019 Jan 16.

PMID:
30499344
3.

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.

Hum Genet. 2018 Jul;137(6-7):447-458. doi: 10.1007/s00439-018-1897-9. Epub 2018 Jul 5.

4.

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.

Genes (Basel). 2017 Oct 23;8(10). pii: E286. doi: 10.3390/genes8100286.

5.

Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.

Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R.

Genes (Basel). 2017 Aug 24;8(9). pii: E210. doi: 10.3390/genes8090210. Erratum in: Genes (Basel). 2017 Oct 23;8(10 ):.

6.

Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional study.

Fernández-Moreno M, Soto-Hermida A, Vázquez-Mosquera ME, Cortés-Pereira E, Relaño S, Hermida-Gómez T, Pértega S, Oreiro-Villar N, Fernández-López C, Garesse R, Blanco FJ, Rego-Pérez I.

Ann Rheum Dis. 2017 Jun;76(6):1114-1122. doi: 10.1136/annrheumdis-2016-210131. Epub 2016 Dec 5. Review.

7.

A replication study and meta-analysis of mitochondrial DNA variants in the radiographic progression of knee osteoarthritis.

Fernández-Moreno M, Soto-Hermida A, Vázquez-Mosquera ME, Cortés-Pereira E, Pértega S, Relaño S, Oreiro-Villar N, Fernández-López C, Blanco FJ, Rego-Pérez I.

Rheumatology (Oxford). 2017 Feb;56(2):263-270. doi: 10.1093/rheumatology/kew394. Epub 2016 Nov 17.

8.

Mitochondrial DNA (mtDNA) haplogroups influence the progression of knee osteoarthritis. Data from the Osteoarthritis Initiative (OAI).

Soto-Hermida A, Fernández-Moreno M, Oreiro N, Fernández-López C, Pértega S, Cortés-Pereira E, Rego-Pérez I, Blanco FJ.

PLoS One. 2014 Nov 12;9(11):e112735. doi: 10.1371/journal.pone.0112735. eCollection 2014.

9.

Mitochondrial DNA haplogroups modulate the radiographic progression of Spanish patients with osteoarthritis.

Soto-Hermida A, Fernández-Moreno M, Pértega-Díaz S, Oreiro N, Fernández-López C, Blanco FJ, Rego-Pérez I.

Rheumatol Int. 2015 Feb;35(2):337-44. doi: 10.1007/s00296-014-3104-1. Epub 2014 Aug 3.

PMID:
25086630
10.

mtDNA haplogroups and osteoarthritis in different geographic populations.

Soto-Hermida A, Fernández-Moreno M, Oreiro N, Fernández-López C, Rego-Pérez I, Blanco FJ.

Mitochondrion. 2014 Mar;15:18-23. doi: 10.1016/j.mito.2014.03.001. Epub 2014 Mar 12.

11.

Genome-wide DNA methylation analysis of articular chondrocytes reveals a cluster of osteoarthritic patients.

Fernández-Tajes J, Soto-Hermida A, Vázquez-Mosquera ME, Cortés-Pereira E, Mosquera A, Fernández-Moreno M, Oreiro N, Fernández-López C, Fernández JL, Rego-Pérez I, Blanco FJ.

Ann Rheum Dis. 2014 Apr;73(4):668-77. doi: 10.1136/annrheumdis-2012-202783. Epub 2013 Mar 16.

PMID:
23505229
12.

Mitochondrial genetics and osteoarthritis.

Rego-Perez I, Fernandez-Moreno M, Soto-Hermida A, Fenandez-Lopez C, Oreiro N, Blanco FJ.

Front Biosci (Schol Ed). 2013 Jan 1;5:360-8. Review.

PMID:
23277056
13.

Mitochondrial haplogroups define two phenotypes of osteoarthritis.

Fernández-Moreno M, Soto-Hermida A, Oreiro N, Pértega S, Fenández-López C, Rego-Pérez I, Blanco FJ.

Front Physiol. 2012 May 11;3:129. doi: 10.3389/fphys.2012.00129. eCollection 2012.

14.

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.

BMC Musculoskelet Disord. 2011 Dec 15;12:283. doi: 10.1186/1471-2474-12-283.

15.

Mitochondrial DNA (mtDNA) haplogroups and serum levels of anti-oxidant enzymes in patients with osteoarthritis.

Fernandez-Moreno M, Soto-Hermida A, Pertega S, Oreiro N, Fernandez-Lopez C, Rego-Perez I, Blanco FJ.

BMC Musculoskelet Disord. 2011 Nov 22;12:264. doi: 10.1186/1471-2474-12-264.

16.

Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study.

Riancho JA, García-Ibarbia C, Gravani A, Raine EV, Rodríguez-Fontenla C, Soto-Hermida A, Rego-Perez I, Dodd AW, Gómez-Reino JJ, Zarrabeitia MT, Garcés CM, Carr A, Blanco F, González A, Loughlin J.

Osteoarthritis Cartilage. 2010 Jul;18(7):927-33. doi: 10.1016/j.joca.2010.04.002. Epub 2010 Apr 22.

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