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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.
PURPOSE: Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). ...Dynein variants, specifically DYNC2H1 variants are reported as a cause of non syndromic IRD....
PURPOSE: Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). ...Dynein variants, specifically …
Pathogenic variant of DYNC2H1 associated with lingual hamartoma in a Chinese pedigree.
Zhao W, Ye G, Li Q, Zhou Y, Yu X, Li Y, Yu M, Wang H. Zhao W, et al. J Oral Pathol Med. 2022 Sep;51(8):755-761. doi: 10.1111/jop.13339. Epub 2022 Aug 18. J Oral Pathol Med. 2022. PMID: 36087272
RESULTS: Whole-exome sequencing of the proband and patients' unaffected brother and parents identified a de novo mutation c.931C>T_p.Pro311Ser in the DYNC2H1 gene (NM_001080463.2). The DYNC2H1 mutation was predicted to be disease-causing for affecting highly cons …
RESULTS: Whole-exome sequencing of the proband and patients' unaffected brother and parents identified a de novo mutation c.931C>T_p.Pro3 …
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.
Cheng C, Li X, Zhao S, Feng Q, Ren X, Chen X. Cheng C, et al. BMC Med Genomics. 2022 Mar 12;15(1):55. doi: 10.1186/s12920-022-01205-z. BMC Med Genomics. 2022. PMID: 35277174 Free PMC article.
Clinical signs of SRTD3 vary among individuals. Pathogenic variants of DYNC2H1 (OMIM: 603297) have been reported to cause SRTD3. METHODS: We performed a detailed clinical prenatal sonographic characterization of a foetus with SRTD3. ...Our findings strongly supported the u …
Clinical signs of SRTD3 vary among individuals. Pathogenic variants of DYNC2H1 (OMIM: 603297) have been reported to cause SRTD3. METH …
Linc-DYNC2H1-4 promotes EMT and CSC phenotypes by acting as a sponge of miR-145 in pancreatic cancer cells.
Gao Y, Zhang Z, Li K, Gong L, Yang Q, Huang X, Hong C, Ding M, Yang H. Gao Y, et al. Cell Death Dis. 2017 Jul 13;8(7):e2924. doi: 10.1038/cddis.2017.311. Cell Death Dis. 2017. PMID: 28703793 Free PMC article.
Knockdown of linc-DYNC2H1-4 decreased the invasive behavior of BxPC-3-Gem cells while ectopic expression of linc-DYNC2H1-4 promoted the acquisition of EMT and stemness of the parental sensitive cells. ...We proved that MMP3, the nearby gene of linc-DYNC2H1-4 …
Knockdown of linc-DYNC2H1-4 decreased the invasive behavior of BxPC-3-Gem cells while ectopic expression of linc-DYNC2H1-4 pro …
Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.
Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N. Fujita A, et al. Neurology. 2019 Jul 16;93(3):e237-e251. doi: 10.1212/WNL.0000000000007774. Epub 2019 Jun 13. Neurology. 2019. PMID: 31197031
A germline heterozygous variant and an identical somatic variant of DYNC2H1 arising from cnLOH at 11q12.2-q25 were confirmed in one patient (whose HH tissue, therefore, contains biallelic variants of DYNC2H1). Furthermore, a combination of a germline and a somatic …
A germline heterozygous variant and an identical somatic variant of DYNC2H1 arising from cnLOH at 11q12.2-q25 were confirmed in one p …
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Eur J Hum Genet. 2023 Jan 4. doi: 10.1038/s41431-022-01276-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 36599940
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). ...EvC/EvC-like features always occurred in compound heterozygotes sharing a previously unreported splice site change (c.6140-5A>G) or compound heterozygotes for two …
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). ...EvC/EvC-like features alwa …
Next generation sequencing in recurrent pregnancy loss-approaches and outcomes.
Rajcan-Separovic E. Rajcan-Separovic E. Eur J Med Genet. 2020 Feb;63(2):103644. doi: 10.1016/j.ejmg.2019.04.001. Epub 2019 Apr 13. Eur J Med Genet. 2020. PMID: 30991114 Review.
Recurrence of specific mutations or affected genes in different studies was rare (e.g.DYNC2H1, KIF14, RYR1 and GLE1) however genes involved in cell division, cilia function or fetal movement were frequently identified as candidates, the later possibly reflecting the fact t …
Recurrence of specific mutations or affected genes in different studies was rare (e.g.DYNC2H1, KIF14, RYR1 and GLE1) however genes in …
Emerging roles of long noncoding RNAs in chemoresistance of pancreatic cancer.
Xie W, Chu M, Song G, Zuo Z, Han Z, Chen C, Li Y, Wang ZW. Xie W, et al. Semin Cancer Biol. 2022 Aug;83:303-318. doi: 10.1016/j.semcancer.2020.11.004. Epub 2020 Nov 15. Semin Cancer Biol. 2022. PMID: 33207266 Review.
In this review article, we will summarize the role of lncRNAs in drug resistance of pancreatic cancer cells, including HOTTIP, HOTAIR, PVT1, linc-ROR, GAS5, UCA1, DYNC2H1-4, MEG3, TUG1, HOST2, HCP5, SLC7A11-AS1 and CASC2. We also highlight the function of circRNAs, such as …
In this review article, we will summarize the role of lncRNAs in drug resistance of pancreatic cancer cells, including HOTTIP, HOTAIR, PVT1, …
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V. El Hokayem J, et al. J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717. J Med Genet. 2012. PMID: 22499340
Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. ...CONCLUSION: This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutation …
Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. ...CONCLUSION: This study confirms that NEK …
99 results