Results 61 to 70 of about 1,942 (177)
Tubulin Polyglutamylation Regulates Axonemal Motility by Modulating Activities of Inner-Arm Dyneins
, 2010 SummaryTubulin polyglutamylation is a modification that adds multiple glutamates to the γ-carboxyl group of a glutamate residue in the C-terminal tails of α- and β-tubulin [1, 2].Kubo, Tomohiro, Yanagisawa, Haru-aki, Yagi, Toshiki, Hirono, Masafumi, Kamiya, Ritsu +4 morecore +1 more sourceThe Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice
Pediatric Pulmonology, Volume 61, Issue 4, April 2026.ABSTRACT
Primary ciliary dyskinesia (PCD) is a rare inherited disease which is characterised by progressive lung disease, chronic rhinosinusitis, repeated middle ear infections, laterality defects, and reduced fertility. An early diagnosis is critical to reduce morbidity, however diagnosis is often delayed due to the heterogeneity in clinical ...Katharine Harman, Amjad Horani, Amelia Shoemark +2 morewiley +1 more sourceDyneins across eukaryotes: a comparative genomic analysis.
, 2007 Dyneins are large minus-end-directed microtubule motors. Each dynein contains at least one dynein heavy chain (DHC) and a variable number of intermediate chains (IC), light intermediate chains (LIC) and light chains (LC).Keith Gull, Wickstead, B, Gull, Keith, Wickstead, Bill, Bill Wickstead, Gull, K +5 morecore +1 more sourceX-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 [PDF]
, 2016 By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid.Ludovic Jeanson, Christel Thauvin-Robinet, van Kogelenberg, Margriet, Michel Guipponi, Loebinger, Michael R., Lucy Jenkins, Fassad, M.R., Jeanson, L., Chung, EMK, Loebinger, M.R., Amselem, S., Escudier, Estelle, Shane McCarthy, Aurora, P., Antonarakis, Stylianos, Miriam Schmidts, Olcese, Chiara, Antonarakis, S.E., Foley, A. Reghan, Shoemark, A., Gabriella Vera, null null, Hayward, Jane, Hogg, Claire, Santeri Kiviluoto, Jenkins, Lucy, Al-Turki, Saeed, Parthiban Vijayarangakannan, Bartoloni, L., Fassad, MR, Loebinger, MR, Steve E. Humphries, Copin, Bruno, Tamalet, Aline, Chantot, Sandra, Barroso, Inês, Chatterjee, Krishna, Sebahattin Cirak, Cahill, T, Bentham, Jamie, Jean- François Papon, Blouin, Jean-Louis, Alice Goldenberg, Emes, Richard D., Amselem, Serge, Mustafa M. Munye, Lucia Bartoloni, Carss, Keren, Laura Dyer, Claire Hogg, Guipponi, M., Olcese,, Chiara, Thomas Cahill, Antony, Dinu, Cahill, T., Chung, Eddie M.K., Shoemark, Amelia, Mitchison, HM, Aurora, P, Christopher Boustred, Alexandros Onoufriadis, Matt Hurles, Guipponi, Michel, Shoemark, A, Fassad, Mahmoud, Estelle Escudier, Antoine Garin, Duquesnoy, P., Papon, Jean Francois, Legendre, M, Scambler, Peter J., Thomas, L., Blouin, J.L., Philip L. Beales, Klaudia Walter, Emes, Richard, Mitchison, Hannah, Papon, Jean-Francois, Wilson, R, Kiviluoto, S, Dyer, L, Shoumo Bhattacharya, Mitali P. Patel, Cosgrove, Catherine, Jim Stalker, Keren Carss, Marie Legendre, Floyd, Jamie, Kiviluoto, Santeri, Dixon, Mellisa, Boustred, C, Papon, JF, Shoemark, Amelia; id_orcid, Francesco Muntoni, et al., Papon, Jean- François, Emes, R.D., Catherine Cosgrove, Corinne Gehrig, Blouin, Jean Louis, Williams, Hywel J., Goldenberg, Alice, Marta Futema, Andrew Bush, Blouin, JL, Mitchison, H.M., Wilson, R., Papon, J-F, Cullup, Thomas, Aurora, Paul, Patel, Mitali, David Fitzpatrick, Williams, Hywel, Dinu Antony, Hywel J. Williams, Lucy Raymond, Boustred, Christopher, Munye, M.M., Stylianos E. Antonarakis, Isabelle Pin, Jamie Floyd, Peter J. Scambler, Savage, David B., Richard Durbin, Chung, EM, Michael R. Loebinger, Franklin, Chris, Bevillard, J., Onoufriadis, A, Thomas, L, Garin, A., Richard D. Emes, Vaughan, CK, Fitzpatrick, David, Plagnol, Vincent, Hayward, J., Muddyman, Dawn, Cahill, Thomas, Wilson, Robert, Vaughan, Cara, Payne, Felicity, Kiviluoto, S., Vera, G., Daly Allan, Dyer, Laura, Semple, Robert, Sandra Chantot, Eddie M. K. Chung, Amelia Shoemark, Chung, Eddie, Armengot, Miguel, Carl Anderson, Hannah M. Mitchison, Eva Serra, Jeanson, Ludovic, Antonarakis, SE, Hogg, C., Williams, HJ, Goldenberg, A., Gehrig, C., Futema, Marta, Pin, I., Mitchison, Hannah M, Dawn Muddyman, Vincent Plagnol, Serra, Eva, Walter, Klaudia, Gehrig, C, Jamie Bentham, Margriet van Kogelenberg, Inês Barroso, Bartoloni, L, Amselem, S, Onoufriadis, Alexandros, Patel, M.P., Copin, B., Robert Semple, Gehrig, Corinne, Guipponi, M, Barroso, In�s, McCarthy, Shane, Tamalet, A, Chantot, S., Bartoloni, Lucia, Loebinger, Michael, Thauvin-Robinet, C., Thomas Cullup, Jeanson, L, Victoria Parker, Raymond, Lucy, Jenkins, L., Bhattacharya, Shoumo, Saeed Al-Turki, Mitchison, Hannah M., Tamalet, A., Parker, Victoria, Chung, Eddie M. K., Garin, A, Boustred, C., Emes, RD, Bruno Copin, Zhaoxia Sun, Garin, Antoine, Allan, Daly, Goldenberg, A, Cullup, T, Williams, H.J., Vera, G, Vaughan, C.K., Munye, Mustafa, Legendre, M., Mahmoud R. Fassad, Patel, Mitali P., Cullup, T., Felicity Payne, Munye, Mustafa M., Vera, Gabriella, Dixon, M., Armengot, M., Mellisa Dixon, Legendre, Marie, Pin, Isabelle, Muntoni, Francesco, Thauvin-Robinet, C, UK10K Rare Group, Papon, Jean- Fran�ois, Jeremy Bevillard, Lucie Thomas, Chung, E.M., Papon, J.F., Chiara Olcese, Thomas, Lucie, Philippe Duquesnoy, Serge Amselem, Olcese, C., Jenkins, L, Beales, Philip L., Anderson, Carl, Hogg, C, Dyer, L., Hurles, Matt, Armengot, M, Fassad, Mahmoud R., Pin, I, Escudier, E, Schmidts, Miriam, Jean-Louis Blouin, Bush, A, Antonarakis, Stylianos E., Bush, Andrew, Munye, MM, Escudier, E., Durbin, Richard, Vijayarangakannan, Parthiban, Chantot, S, Paul Aurora, Duquesnoy, Philippe, Dixon, M, Aline Tamalet, Thauvin-Robinet, Christel, Onoufriadis, A., Sun, Z., Bush, A., Hayward, J, A. Reghan Foley, Bevillard, Jeremy, Krishna Chatterjee, Patel, MP, Blouin, J-L, Cara K. Vaughan, Robert Wilson, Schmidts, M., Stalker, Jim, Miguel Armengot, Chris Franklin, Bevillard, J, Duquesnoy, P, Jane Hayward, David B. Savage, Vaughan, Cara K., Cirak, Sebahattin, Humphries, Steve E., Olcese, C, Sun, Zhaoxia, Copin, B, Sun, Z +285 morecore +1 more sourceExploring the Neural Substrates of Number Sense: A Perspective on Genetics, Behaviour and Neural Circuity
European Journal of Neuroscience, Volume 63, Issue 8, April 2026.Numerical cognition arises from conserved mechanisms linking genes, neural circuits and behaviour. Using zebrafish as a tractable model, behavioural assays, whole‐brain imaging and genetic analyses can be integrated to identify neural and molecular bases of quantity discrimination. This framework provides a platform for studying numerical cognition and Mirko Zanon, Caroline H. Brennan, Maria Elena Miletto Petrazzini, Jose V. Torres‐Pérez +3 morewiley +1 more sourceUnraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT
Kartagener's Syndrome (KS), a rare autosomal recessive disorder and a subset of Primary Ciliary Dyskinesia (PCD), is characterized by chronic sinusitis, bronchiectasis, and, in approximately 50% of cases, situs inversus. This condition arises from genetic mutations that impair motile cilia function, leading to defective mucociliary clearance ...Ibrahim Khalil, Sakib Abrar, Shah Tanvir Ahmed, Md. Imran Hossain +3 morewiley +1 more sourceCiliary Defects in Inherited Retinal Diseases
Advanced Genetics, Volume 7, Issue 1, March 2026.The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...Guizhi Guo, Lin Li, Jun Zhou, Jie Ranwiley +1 more sourceMapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility
Advanced Science, Volume 13, Issue 9, 13 February 2026.This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He +22 morewiley +1 more source