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Items: 1 to 20 of 34

1.
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets
Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson
Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8
PMCID:
PMC10499821
AbstractArticlePDF–2.6M
2.
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit
Julia Hunter‐Schouela, Michael T. Geraghty, Robert A. Hegele, David A. Dyment, David St Pierre, Julie Richer, Holden Sheffield, Maimoona A. Zariwala, Michael R. Knowles, Anna Lehman, Sharon Dell, Adam J. Shapiro, Thomas A. Kovesi
Pediatr Pulmonol. Author manuscript; available in PMC 2023 Jul 10.
Published in final edited form as: Pediatr Pulmonol. 2023 Jul; 58(7): 1942–1949. Published online 2023 Apr 23. doi: 10.1002/ppul.26414
PMCID:
PMC10330405
AbstractArticlePDF–847K
3.
A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia
Adam J. Shapiro, Jaclyn R. Stonebraker, Michael R. Knowles, Maimoona A. Zariwala
Am J Respir Cell Mol Biol. 2022 Oct 1; 67(4): 511–514. Published online 2022 Oct 1. doi: 10.1165/rcmb.2022-0176LE
PMCID:
PMC9648669
ArticlePDF–829K
4.
Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries
Marlon De Ita, Javier Gaytán-Cervantes, Bulmaro Cisneros, María Antonieta Araujo, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Charles César Lazo-Cárdenas, César Iván Ramírez-Portillo, Carina Feria-Kaiser, Leoncio Peregrino-Bejarano, Lucelli Yáñez-Gutiérrez, Carolina González-Torres, Haydeé Rosas-Vargas
Genes (Basel) 2022 Sep; 13(9): 1662. Published online 2022 Sep 16. doi: 10.3390/genes13091662
PMCID:
PMC9498580
AbstractArticlePDF–1.0M
5.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
6.
Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia
Ying Xiong, Hong Xia, Lamei Yuan, Sheng Deng, Zerui Ding, Hao Deng
J Cell Mol Med. 2021 Sep; 25(18): 9028–9037. Published online 2021 Aug 18. doi: 10.1111/jcmm.16866
PMCID:
PMC8435457
AbstractArticlePDF–1.0M
7.
Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation
Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee
Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572
PMCID:
PMC8307194
AbstractArticlePDF–2.8M
8.
DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease
Hong Xia, Xiangjun Huang, Sheng Deng, Hongbo Xu, Yan Yang, Xin Liu, Lamei Yuan, Hao Deng
PLoS One. 2021; 16(6): e0252786. Published online 2021 Jun 16. doi: 10.1371/journal.pone.0252786
PMCID:
PMC8208527
AbstractArticlePDF–1.3M
9.
Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype
Rüdiger Schultz, Varpu Elenius, Heikki Lukkarinen, Tanja Saarela
BMC Med Genet. 2020; 21: 237. Published online 2020 Nov 26. doi: 10.1186/s12881-020-01171-2
PMCID:
PMC7690114
AbstractArticlePDF–629K
10.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran
Nat Commun. 2020; 11: 5520. Published online 2020 Nov 2. doi: 10.1038/s41467-020-19113-0
PMCID:
PMC7606486
AbstractArticlePDF–6.3M
11.
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez
BMC Med Genet. 2020; 21: 87. Published online 2020 May 1. doi: 10.1186/s12881-020-01020-2
PMCID:
PMC7193346
AbstractArticlePDF–3.6M
12.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
13.
Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients
Dongliang Zhu, Hongguo Zhang, Ruixue Wang, Xiaojun Liu, Yuting Jiang, Tao Feng, Ruizhi Liu, Guirong Zhang
Biosci Rep. 2019 Jun 28; 39(6): BSR20181450. Prepublished online 2019 Jun 3. Published online 2019 Jun 20. doi: 10.1042/BSR20181450
PMCID:
PMC6617048
AbstractArticlePDF–537K
14.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean-Pierre Siffroi, Jean-François Papon, Estelle Escudier, Serge Amselem, Valérie Mitchell, Aminata Touré, Marie Legendre
Am J Hum Genet. 2019 Jul 3; 105(1): 198–212. Published online 2019 Jun 6. doi: 10.1016/j.ajhg.2019.04.015
PMCID:
PMC6612517
AbstractArticlePDF–3.2M
15.
TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile
Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert
Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116
Correction in:
Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.
PMCID:
PMC6600915
AbstractArticlePDF–1.7M
16.
Intronic polymorphisms in genes LRFN2 (rs2494938) and DNAH11 (rs2285947) are prognostic indicators of esophageal squamous cell carcinoma
Jiru Wang, Qiuzi Wang, Bin Wei, Yu Zhou, Zhaoye Qian, Yong Gao, Xiaofei Chen
BMC Med Genet. 2019; 20: 72. Published online 2019 May 3. doi: 10.1186/s12881-019-0796-9
PMCID:
PMC6499982
AbstractArticlePDF–754K
17.
DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome
Sida Liu, Weicheng Chen, Yongkun Zhan, Shuolin Li, Xiaojing Ma, Duan Ma, Wei Sheng, Guoying Huang
Sci Rep. 2019; 9: 6683. Published online 2019 Apr 30. doi: 10.1038/s41598-019-43109-6
PMCID:
PMC6491566
AbstractArticlePDF–1.8M
18.
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease
SJ Furney, A Simmons, G Breen, I Pedroso, K Lunnon, P Proitsi, A Hodges, J Powell, L-O Wahlund, I Kloszewska, P Mecocci, H Soininen, M Tsolaki, B Vellas, C Spenger, M Lathrop, L Shen, S Kim, AJ Saykin, MW Weiner, S Lovestone
Mol Psychiatry. Author manuscript; available in PMC 2018 May 31.
Published in final edited form as: Mol Psychiatry. 2011 Nov; 16(11): 1130–1138. Published online 2010 Nov 30. doi: 10.1038/mp.2010.123
PMCID:
PMC5980656
AbstractArticlePDF–439K
19.
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms
Ozanna Burnicka-Turek, Jeffrey D. Steimle, Wenhui Huang, Lindsay Felker, Anna Kamp, Junghun Kweon, Michael Peterson, Roger H. Reeves, Cheryl L. Maslen, Peter J. Gruber, Xinan H. Yang, Jay Shendure, Ivan P. Moskowitz
Hum Mol Genet. 2016 Jul 15; 25(14): 3011–3028. Published online 2016 Jun 23. doi: 10.1093/hmg/ddw155
PMCID:
PMC5181596
AbstractArticlePDF–1.1M
20.
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk
Peter Broderick, Daniel Chubb, David C Johnson, Niels Weinhold, Asta Försti, Amy Lloyd, Bianca Olver, Yussanne Ma, Sara E Dobbins, Brian A Walker, Faith E Davies, Walter A Gregory, J. Anthony Childs, Fiona M Ross, Graham H Jackson, Kai Neben, Anna Jauch, Per Hoffmann, Thomas W Mühleisen, Markus M Nöthen, Susanne Moebus, Ian P Tomlinson, Hartmut Goldschmidt, Kari Hemminki, Gareth J Morgan, Richard S Houlston
Nat Genet. Author manuscript; available in PMC 2016 Nov 14.
Published in final edited form as: Nat Genet. 2011 Nov 27; 44(1): 58–61. Published online 2011 Nov 27. doi: 10.1038/ng.993
PMCID:
PMC5108406
AbstractArticlePDF–663K

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