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Select item 99902231.

Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

Yazhao Mei, Yunyi Jiang, Zhenlin Zhang, Hao Zhang

BMC Med Genomics. 2023; 16: 47. Published online 2023 Mar 7. doi: 10.1186/s12920-023-01472-4

PMCID:: PMC9990223

Abstract Article PDF–2.9M

Select item 91170402.

A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis

Yanhong Wang, Jiyu Han, Haichao Zhou, Songtao Ai, Daqian Wan

Dis Markers. 2022; 2022: 6304859. Published online 2022 May 11. doi: 10.1155/2022/6304859

PMCID:: PMC9117040

Abstract Article PDF–3.6M

Select item 89589133.

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum

Alexios-Fotios A. Mentis, Dimitrios Vlachakis, Eleni Papakonstantinou, Ioannis Zaganas, George P. Patrinos, George P. Chrousos, Efthimios Dardiotis

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006096. doi: 10.1101/mcs.a006096

PMCID:: PMC8958913

Abstract Article PDF–5.6M

Select item 89229684.

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations

Tangfeng Su, Yu Yan, Qingqing Hu, Yan Liu, Sanqing Xu

Mol Genet Genomic Med. 2022 Mar; 10(3): e1874. Published online 2022 Jan 31. doi: 10.1002/mgg3.1874

PMCID:: PMC8922968

Abstract Article PDF–1.2M

Select item 86033825.

De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms

Haipo Yang, Pan Gong, Xianru Jiao, Yue Niu, Qiujun Zhou, Yuehua Zhang, Zhixian Yang

Front Neurol. 2021; 12: 733178. Published online 2021 Nov 5. doi: 10.3389/fneur.2021.733178

PMCID:: PMC8603382

Abstract Article PDF–1.9M

Select item 83733566.

Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients

Shunwei Huang, Tingyu Zhang, Yuhua Wang, Linlin Wang, Ziye Yan, Ying Teng, Zhen Li, Qiuyue Lou, Shuang Liu, Jing Cai, Yangfan Chen, Mu Li, Hailiang Huang, Zhouzhou Xu, Yanfeng Zou

J Clin Lab Anal. 2021 Aug; 35(8): e23892. Published online 2021 Jul 17. doi: 10.1002/jcla.23892

PMCID:: PMC8373356

Abstract Article PDF–942K

Select item 78035857.

Could microtubule inhibitors be the best choice of therapy in gastric cancer with high immune activity: mutant DYNC1H1 as a biomarker

Jin Bai, BoWen Yang, Ruichuan Shi, Xinye Shao, Yujing Yang, Fang Wang, Jiawen Xiao, Xiujuan Qu, Yunpeng Liu, Ye Zhang, Zhi Li

Aging (Albany NY) 2020 Dec 31; 12(24): 25101–25119. Published online 2020 Nov 20. doi: 10.18632/aging.104084

PMCID:: PMC7803585

Abstract Article PDF–2.6M

Select item 77195548.

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

Lena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus Bok, Lance Rodan, Ingrid Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M. Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Cirak

J Hum Genet. 2020; 65(11): 1003–1017. Published online 2020 Aug 12. doi: 10.1038/s10038-020-0803-1

PMCID:: PMC7719554

Abstract Article PDF–3.2M

Select item 75678539.

BioID-based proteomic analysis of the Bid interactome identifies novel proteins involved in cell-cycle-dependent apoptotic priming

Robert Pedley, Louise E. King, Venkatesh Mallikarjun, Pengbo Wang, Joe Swift, Keith Brennan, Andrew P. Gilmore

Cell Death Dis. 2020 Oct; 11(10): 872. Published online 2020 Oct 16. doi: 10.1038/s41419-020-03091-8

PMCID:: PMC7567853

Abstract Article PDF–2.9M

Select item 711610810.

A High Throughput Cellular Screening Assay for Small Molecule Inhibitors and Activators of Cytoplasmic Dynein-1-Based Cargo Transport

John Vincent, Marian Preston, Elizabeth Mouchet, Nicolas Laugier, Adam Corrigan, Jérôme Boulanger, Dean G. Brown, Roger Clark, Mark Wigglesworth, Andrew P. Carter, Simon L. Bullock

SLAS Discov. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: SLAS Discov. 2020 Oct 1; 25(9): 985–999. Published online 2020 May 21. doi: 10.1177/2472555220920581

PMCID:: PMC7116108

Abstract Article PDF–1.8M

Select item 533851411.

DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes

Ha Thi Hoang, Max A. Schlager, Andrew P. Carter, Simon L. Bullock

Proc Natl Acad Sci U S A. 2017 Feb 28; 114(9): E1597–E1606. Published online 2017 Feb 14. doi: 10.1073/pnas.1620141114

PMCID:: PMC5338514

Abstract Article PDF–1.9M

Select item 474277212.

Identification of a de novo DYNC1H1 mutation via WES according to published guidelines

Dongxue Ding, Zhao Chen, Kai Li, Zhe Long, Wei Ye, Zhaoli Tang, Kun Xia, Rong Qiu, Beisha Tang, Hong Jiang

Sci Rep. 2016; 6: 20423. Published online 2016 Feb 5. doi: 10.1038/srep20423

PMCID:: PMC4742772

Abstract Article PDF–492K

Select item 457382913.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

Alleene V. Strickland, Maria Schabhüttl, Hans Offenbacher, Matthis Synofzik, Natalie S. Hauser, Michaela Brunner-Krainz, Ursula Gruber-Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael A. Gonzalez, Stephan Züchner, Rebecca Schule, Michael E. Shy, Michaela Auer-Grumbach

J Neurol. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: J Neurol. 2015 Sep; 262(9): 2124–2134. Published online 2015 Jun 24. doi: 10.1007/s00415-015-7727-2

PMCID:: PMC4573829

Abstract Article PDF–714K

Select item 433610514.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Mariacristina Scoto, Alexander M. Rossor, Matthew B. Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb, Adnan Y. Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour, Penny Fallon, Irene Hadjikoumi, Andrea Klein, Michele Yang, Marianne De Visser, W.C.G. (Truus) Overweg-Plandsoen, Frank Baas, J. Paul Taylor, Michael Benatar, Anne M. Connolly, Muhammad T. Al-Lozi, John Nixon, Christian G.E.L. de Goede, A. Reghan Foley, Catherine Mcwilliam, Matthew Pitt, Caroline Sewry, Rahul Phadke, Majid Hafezparast, W.K. “Kling” Chong, Eugenio Mercuri, Robert H. Baloh, Mary M. Reilly, Francesco Muntoni

Neurology. 2015 Feb 17; 84(7): 668–679. doi: 10.1212/WNL.0000000000001269

PMCID:: PMC4336105

Abstract Article PDF–1.0M

Select item 425754715.

Dynein Function and Protein Clearance Changes in Tumor Cells Induced by a Kunitz-Type Molecule, Amblyomin-X

Mario T. F. Pacheco, Carolina M. Berra, Kátia L. P. Morais, Juliana M. Sciani, Vania G. Branco, Rosemary V. Bosch, Ana M. Chudzinski-Tavassi

PLoS One. 2014; 9(12): e111907. Published online 2014 Dec 5. doi: 10.1371/journal.pone.0111907

PMCID:: PMC4257547

Abstract Article PDF–6.2M

Select item 410968316.

Novel dynein DYNC1H1 neck and motor domain mutations link distal SMA and abnormal cortical development

Chiara Fiorillo, Francesca Moro, Julie Yi, Sarah Weil, Giacomo Brisca, Guja Astrea, Mariasavina Severino, Alessandro Romano, Roberta Battini, Andrea Rossi, Carlo Minetti, Claudio Bruno, Filippo M. Santorelli, Richard Vallee

Hum Mutat. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Hum Mutat. 2014 Mar; 35(3): 298–302. Published online 2014 Jan 3. doi: 10.1002/humu.22491

PMCID:: PMC4109683

Abstract Article PDF–618K

Select item 392771917.

Dynein, microtubule and cargo: a ménage à trois

Nenad Pavin, Iva M. Tolić-Nørrelykke

Biochem Soc Trans. 2013 Dec 1; 41(Pt 6): 1731–1735. Published online 2013 Nov 20. doi: 10.1042/BST20130235

PMCID:: PMC3927719

Abstract Article PDF–1.7M

Select item 352901618.

Reconstitution of the human cytoplasmic dynein complex

Martina Trokter, Norbert Mücke, Thomas Surrey

Proc Natl Acad Sci U S A. 2012 Dec 18; 109(51): 20895–20900. Published online 2012 Dec 4. doi: 10.1073/pnas.1210573110

PMCID:: PMC3529016

Abstract Article PDF–1.0M

Select item 335958219.

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

M.B. Harms, K.M. Ori-McKenney, M. Scoto, E.P. Tuck, S. Bell, D. Ma, S. Masi, P. Allred, M. Al-Lozi, M.M. Reilly, L.J. Miller, A. Jani-Acsadi, A. Pestronk, M.E. Shy, F. Muntoni, R.B. Vallee, R.H. Baloh

Neurology. 2012 May 29; 78(22): 1714–1720. doi: 10.1212/WNL.0b013e3182556c05

PMCID:: PMC3359582

Abstract Article PDF–698K

Select item 315516420.

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury-Ecob, Sian Ellard

Am J Hum Genet. 2011 Aug 12; 89(2): 308–312. doi: 10.1016/j.ajhg.2011.07.002

PMCID:: PMC3155164

Abstract Article PDF–154K

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