Motile cilia defects in diseases other than primary ciliary dyskinesia

The contemporary diagnostic and research role for transmission electron microscopy

Hannah M. Mitchison (Lead / Corresponding author), Amelia Shoemark

Research output: Contribution to journalReview article

4 Citations (Scopus)
69 Downloads (Pure)

Abstract

Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s. Recent developments from transmission electron microscopy (TEM; cryo-electron microscopy, electron tomography) have yielded higher resolution and fresh insights into the structure and function of these complex organelles. Microscopy in ciliated organisms, disease models, and in patients with ciliopathy diseases has dramatically expanded our understanding of the ubiquity, multisystem involvement, and importance of cilia in normal human development. Here, we review the importance of motile cilia ultrastructural studies in understanding the basis of diseases other than primary ciliary dyskinesia.
Original languageEnglish
Pages (from-to)415-427
Number of pages13
JournalUltrastructural Pathology
Volume41
Issue number6
Early online date19 Sep 2017
DOIs
Publication statusPublished - 2017

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Kartagener Syndrome
Cilia
Transmission Electron Microscopy
Research
Electron Microscope Tomography
Cryoelectron Microscopy
Human Development
Organelles
Microscopy
History
Health

Keywords

  • Transmission electron microscopy
  • Ciliopathy disease
  • Non-respiratory
  • Motile cilia

Cite this

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title = "Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy",
abstract = "Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s. Recent developments from transmission electron microscopy (TEM; cryo-electron microscopy, electron tomography) have yielded higher resolution and fresh insights into the structure and function of these complex organelles. Microscopy in ciliated organisms, disease models, and in patients with ciliopathy diseases has dramatically expanded our understanding of the ubiquity, multisystem involvement, and importance of cilia in normal human development. Here, we review the importance of motile cilia ultrastructural studies in understanding the basis of diseases other than primary ciliary dyskinesia.",
keywords = "Transmission electron microscopy, Ciliopathy disease, Non-respiratory, Motile cilia",
author = "Mitchison, {Hannah M.} and Amelia Shoemark",
note = "The authors acknowledge support from the BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD network (COST Action 1407). Work by A.S. is independent research funded by a postdoctoral research fellowship from the National Institute of Health Research and Health Education England. H.M.M. is supported by the Great Ormond Street Hospital Children’s Charity and the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London.",
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journal = "Ultrastructural Pathology",
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Motile cilia defects in diseases other than primary ciliary dyskinesia : The contemporary diagnostic and research role for transmission electron microscopy. / Mitchison, Hannah M. (Lead / Corresponding author); Shoemark, Amelia.

In: Ultrastructural Pathology, Vol. 41, No. 6, 2017, p. 415-427.

Research output: Contribution to journalReview article

TY - JOUR

T1 - Motile cilia defects in diseases other than primary ciliary dyskinesia

T2 - The contemporary diagnostic and research role for transmission electron microscopy

AU - Mitchison, Hannah M.

AU - Shoemark, Amelia

N1 - The authors acknowledge support from the BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD network (COST Action 1407). Work by A.S. is independent research funded by a postdoctoral research fellowship from the National Institute of Health Research and Health Education England. H.M.M. is supported by the Great Ormond Street Hospital Children’s Charity and the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London.

PY - 2017

Y1 - 2017

N2 - Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s. Recent developments from transmission electron microscopy (TEM; cryo-electron microscopy, electron tomography) have yielded higher resolution and fresh insights into the structure and function of these complex organelles. Microscopy in ciliated organisms, disease models, and in patients with ciliopathy diseases has dramatically expanded our understanding of the ubiquity, multisystem involvement, and importance of cilia in normal human development. Here, we review the importance of motile cilia ultrastructural studies in understanding the basis of diseases other than primary ciliary dyskinesia.

AB - Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s. Recent developments from transmission electron microscopy (TEM; cryo-electron microscopy, electron tomography) have yielded higher resolution and fresh insights into the structure and function of these complex organelles. Microscopy in ciliated organisms, disease models, and in patients with ciliopathy diseases has dramatically expanded our understanding of the ubiquity, multisystem involvement, and importance of cilia in normal human development. Here, we review the importance of motile cilia ultrastructural studies in understanding the basis of diseases other than primary ciliary dyskinesia.

KW - Transmission electron microscopy

KW - Ciliopathy disease

KW - Non-respiratory

KW - Motile cilia

U2 - 10.1080/01913123.2017.1370050

DO - 10.1080/01913123.2017.1370050

M3 - Review article

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SP - 415

EP - 427

JO - Ultrastructural Pathology

JF - Ultrastructural Pathology

SN - 0191-3123

IS - 6

ER -