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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 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. 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 …
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 …
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F. Buchh M, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006254. doi: 10.1101/mcs.a006254. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36442996 Free PMC article.
Exome sequencing (ES) revealed a maternally inherited likely pathogenic variant c.10322C > T p.(Leu3448Pro) in the DYNC2H1 gene. However, there was no variant found on the paternal allele. Microarray analysis to detect deletion or duplication in DYNC2H1 was norma …
Exome sequencing (ES) revealed a maternally inherited likely pathogenic variant c.10322C > T p.(Leu3448Pro) in the DYNC2H1 gene. H …
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 …
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.
Marshall AE, MacDonald SK, Liang Y, Couse M; Care4Rare Canada Consortium; Boycott KM, Richer J, Kernohan KD. Marshall AE, et al. Mol Genet Genomic Med. 2023 Oct;11(10):e2247. doi: 10.1002/mgg3.2247. Epub 2023 Jul 24. Mol Genet Genomic Med. 2023. PMID: 37489014 Free PMC article.
METHODS: Following inconclusive clinical genetic testing identifying a likely pathogenic frameshift variant and an intronic variant of uncertain significance (VUS) in DYNC2H1 in trans, the family enrolled in the Care4Rare Canada research program, where RNA-Seq studies were …
METHODS: Following inconclusive clinical genetic testing identifying a likely pathogenic frameshift variant and an intronic variant of uncer …
117 results