| We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment. | Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N, THES clinical consortium, Fabre A, Badens C. | 06/1/2019 |
| This meta-analysis showed that SKIV2L rs429608 was statistically associated with age-related macular degeneration(AMD) and it might exert a protective effect on AMD. Further investigations are needed to validate the association and confirm the role of SKIV2L in AMD. | Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis.
Shuai P, Ye Z, Liu Y, Qu C, Liu X, Luo H, Feng X, Li X, Shi Y, Gong B. | 11/18/2017 |
| The present study was the first, to the best of our knowledge, to report a case of a boy with THES resulting from compound heterozygous mutations of the SKIV2L gene in China. | Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.
Zheng B, Pan J, Jin Y, Wang C, Liu Z. | 04/8/2017 |
| Study reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations. | Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.
Lee WS, Teo KM, Ng RT, Chong SY, Kee BP, Chua KH. | 01/14/2017 |
| Data from 4 consanguineous families in Saudi Arabia suggest SKIV2L mutations in tricho-hepato-enteric syndrome can include deletions (c.3559_3579del, p.1187_1193del; 4 subjects) and nonsense mutation (c.C4102T, p.Q1368X; 1 subject). [CASE REPORT] | Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.
Monies DM, Rahbeeni Z, Abouelhoda M, Naim EA, Al-Younes B, Meyer BF, Al-Mehaidib A. | 05/21/2016 |
| A SKIV2L variant was associated with protection against exudative age-related macular degeneration regardless of subtypes in the Japanese population. | Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese population.
Yoneyama S, Sakurada Y, Mabuchi F, Sugiyama A, Kubota T, Iijima H. | 08/15/2015 |
| Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L gene were found in a family with severe infantile liver disease. | A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Morgan NV, Hartley JL, Setchell KD, Simpson MA, Brown R, Tee L, Kirkham S, Pasha S, Trembath RC, Maher ER, Gissen P, Kelly DA., Free PMC Article | 01/4/2014 |
| SKIV2L is a likely causal gene for neovascular AMD, conferring a significant protective effect independent of CFH and HTRA1. | Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy.
Liu K, Chen LJ, Tam PO, Shi Y, Lai TY, Liu DT, Chiang SW, Yang M, Yang Z, Pang CP. | 05/25/2013 |
| The results showed that mutations in genes encoding SKIV2L cause trichohepatoenteric syndrome, establishing a link between defects of the human exosome complex and a Mendelian disease. | SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C., Free PMC Article | 06/2/2012 |
| A protective effect was observed at rs429608, an intronic SNP in SKIV2L. | Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
Kopplin LJ, Igo RP Jr, Wang Y, Sivakumaran TA, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, SanGiovanni JP, Chew EY, Pauer GJ, Sturgill GM, Joshi T, Tian L, Xi Q, Henning AK, Lee KE, Klein R, Klein BE, Iyengar SK, Kopplin LJ, Igo RP Jr, Wang Y, Sivakumaran TA, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, SanGiovanni JP, Chew EY, Pauer GJ, Sturgill GM, Joshi T, Tian L, Xi Q, Henning AK, Lee KE, Klein R, Klein BE, Iyengar SK., Free PMC Articles: PMC3375062, PMC3375062 | 06/18/2011 |
| Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) | Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
Kopplin LJ, Igo RP Jr, Wang Y, Sivakumaran TA, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, SanGiovanni JP, Chew EY, Pauer GJ, Sturgill GM, Joshi T, Tian L, Xi Q, Henning AK, Lee KE, Klein R, Klein BE, Iyengar SK, Kopplin LJ, Igo RP Jr, Wang Y, Sivakumaran TA, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, SanGiovanni JP, Chew EY, Pauer GJ, Sturgill GM, Joshi T, Tian L, Xi Q, Henning AK, Lee KE, Klein R, Klein BE, Iyengar SK., Free PMC Articles: PMC3375062, PMC3375062 | 12/5/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Our results do not support any major role of the 4 AMD-associated variants in the risk of developing PCV, but favor a predominant association with the RDBP-SKIV2L variants | Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology.
Kondo N, Honda S, Kuno S, Negi A, Kondo N, Honda S, Kuno S, Negi A. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesExamination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
Ucisik-Akkaya E, Davis CF, Do TN, Morrison BA, Stemmer SM, Amadio WJ, Dorak MT. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA. Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology.
Kondo N, Honda S, Kuno S, Negi A, Kondo N, Honda S, Kuno S, Negi A. Genetic variants in the HLA-G region are associated with Kawasaki disease.
Kim JJ, Hong SJ, Hong YM, Kim S, Kang MJ, Kim KJ, Seo EJ, Yoo HW, Cheong HS, Shin HD, Park IS, Lee JK. Identification of two independent risk factors for lupus within the MHC in United Kingdom families.
Fernando MM, Stevens CR, Sabeti PC, Walsh EC, McWhinnie AJ, Shah A, Green T, Rioux JD, Vyse TJ. | 03/13/2008 |
| SKI2VL was found to be associated with the human exosome, a multiprotein complex involved in RNA degradation. | AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.
Chen CY, Gherzi R, Ong SE, Chan EL, Raijmakers R, Pruijn GJ, Stoecklin G, Moroni C, Mann M, Karin M. | 03/20/2004 |