| DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders. | DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC, Liang XY, Zhang DM, Jin L, Liu ZG, Zeng XL, Zhai QX, Liao WP, He N, Meng XH. | 04/15/2024 |
| DYNC1H1-related epilepsy: Genotype-phenotype correlation. | DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y. | 03/13/2023 |
| Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation. | Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
Mei Y, Jiang Y, Zhang Z, Zhang H., Free PMC Article | 03/9/2023 |
| [Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1]. | [Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].
Yang CJ, Wang S, Tan DD, Liu YD, Fan YB, Wei CJ, Song DY, Zhu Y, Xiong H. | 02/4/2023 |
| A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis. | A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis.
Wang Y, Han J, Zhou H, Ai S, Wan D., Free PMC Article | 05/28/2022 |
| De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations. | De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T, Yan Y, Hu Q, Liu Y, Xu S., Free PMC Article | 05/7/2022 |
| A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum. | A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.
Mentis AA, Vlachakis D, Papakonstantinou E, Zaganas I, Patrinos GP, Chrousos GP, Dardiotis E., Free PMC Article | 04/23/2022 |
| Two cases of DYNC1H1 mutations with intractable epilepsy. | Two cases of DYNC1H1 mutations with intractable epilepsy.
Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T. | 03/19/2022 |
| Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients. | Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients.
Huang S, Zhang T, Wang Y, Wang L, Yan Z, Teng Y, Li Z, Lou Q, Liu S, Cai J, Chen Y, Li M, Huang H, Xu Z, Zou Y., Free PMC Article | 01/15/2022 |
| DYNC1H1 regulates NSCLC cell growth and metastasis by IFN-gamma-JAK-STAT signaling and is associated with an aberrant immune response. | DYNC1H1 regulates NSCLC cell growth and metastasis by IFN-γ-JAK-STAT signaling and is associated with an aberrant immune response.
Pan H, Chai W, Liu X, Yu T, Sun L, Yan M. | 12/11/2021 |
| A High-Throughput Cellular Screening Assay for Small-Molecule Inhibitors and Activators of Cytoplasmic Dynein-1-Based Cargo Transport. | A High-Throughput Cellular Screening Assay for Small-Molecule Inhibitors and Activators of Cytoplasmic Dynein-1-Based Cargo Transport.
Vincent J, Preston M, Mouchet E, Laugier N, Corrigan A, Boulanger J, Brown DG, Clark R, Wigglesworth M, Carter AP, Bullock SL., Free PMC Article | 07/17/2021 |
| DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. | DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Amabile S, Jeffries L, McGrath JM, Ji W, Spencer-Manzon M, Zhang H, Lakhani SA. | 06/12/2021 |
| A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies. | A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y. | 06/5/2021 |
| The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. | The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Becker LL, Dafsari HS, Schallner J, Abdin D, Seifert M, Petit F, Smol T, Bok L, Rodan L, Krapels I, Spranger S, Weschke B, Johnson K, Straub V, Kaindl AM, Di Donato N, von der Hagen M, Cirak S., Free PMC Article | 05/29/2021 |
| Could microtubule inhibitors be the best choice of therapy in gastric cancer with high immune activity: mutant DYNC1H1 as a biomarker. | Could microtubule inhibitors be the best choice of therapy in gastric cancer with high immune activity: mutant DYNC1H1 as a biomarker.
Bai J, Yang B, Shi R, Shao X, Yang Y, Wang F, Xiao J, Qu X, Liu Y, Zhang Y, Li Z., Free PMC Article | 05/15/2021 |
| Acting like a sponge of miR-140-5p, silenced circDYNC1H1 downregulated SULT2B1 to restrain HCC cell proliferation. | Downregulation of circDYNC1H1 exhibits inhibitor effect on cell proliferation and migration in hepatocellular carcinoma through miR-140-5p.
Wang ZY, Zhu Z, Wang HF, Qin B, Liu J, Yao XH, Li WC, Chen KS. | 05/23/2020 |
| Significantly decreased methylation of CpG islands within exon 37 of the DYNC1H1 gene was observed in patients with a severe SMA manifestation (type I) compared to mildly affected SMA patients (types III-IV). | DYNC1H1 gene methylation correlates with severity of spinal muscular atrophy.
Maretina M, Egorova A, Baranov V, Kiselev A. | 02/22/2020 |
| Over the years other phenotypes including Charcot Marie Tooth type 2 and hereditary mental retardation with cortical neural migration defects have also been reported to be caused by DYNC1H1 mutations | A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant.
Das J, Lilleker JB, Jabbal K, Ealing J. | 05/25/2019 |
| Using in vitro total internal reflection fluorescence microscopy, the study observed that higher concentrations of Ndc80 inhibited dynein binding to microtubules, providing evidence that Ndc80 and dynein antagonize each other's function. | Antagonism between the dynein and Ndc80 complexes at kinetochores controls the stability of kinetochore-microtubule attachments during mitosis.
Amin MA, McKenney RJ, Varma D., Free PMC Article | 01/12/2019 |
| Taken together, these results demonstrate DYNC1H1 as a strong candidate and RTP1 as a potential candidate on the onset of epileptic encephalopathies. | Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
Lin Z, Liu Z, Li X, Li F, Hu Y, Chen B, Wang Z, Liu Y., Free PMC Article | 09/1/2018 |
| Here, the authors use quantitative imaging and laser ablation to show that NuMA targets dynactin to spindle microtubule minus-ends, localizing dynein activity there. | NuMA recruits dynein activity to microtubule minus-ends at mitosis.
Hueschen CL, Kenny SJ, Xu K, Dumont S., Free PMC Article | 07/7/2018 |
| Structural and functional mutations and hotspots for DYNC1H1. | Computational prediction and analysis of deleterious cancer associated missense mutations in DYNC1H1.
Sucularli C, Arslantas M. | 04/21/2018 |
| This observation offers an explanation for the dominant effects of DYNC1H1 mutations in vivo. | DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.
Hoang HT, Schlager MA, Carter AP, Bullock SL., Free PMC Article | 04/14/2018 |
| This cohort demonstrates that mutations in DYNC1H1 can mimic a congenital myopathy. | Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G. | 03/17/2018 |
| These results suggest that cytoplasmic dynein 1 binds to BRCA2 through the latter's centrosomal localization signal and BRCA2 mediates the cohesion between centrosomes during the S phase, potentially serving as a cell-cycle checkpoint. | BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein.
Malik S, Saito H, Takaoka M, Miki Y, Nakanishi A., Free PMC Article | 06/24/2017 |