IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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In: PLOS Genetics, 19, 6, S. e1010796-
- Ereignis
-
Veröffentlichung
- (wo)
-
Augsburg
- (wer)
-
Universität Augsburg
- (wann)
-
2023
- Ereignis
-
Veröffentlichung
- (wo)
-
San Francisco, Calif
- (wer)
-
Public Library of Science (PLoS)
- (wann)
-
2023
- Urheber
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Bakey, Zeineb
Cabrera, Oscar A.
Hoefele, Julia
Antony, Dinu
Wu, Kaman
Stuck, Michael W.
Micha, Dimitra
Eguether, Thibaut
Smith, Abigail O.
van der Wel, Nicole N.
Wagner, Matias
Strittmatter, Lara
Beales, Philip L.
Jonassen, Julie A.
Thiffault, Isabelle
Cadieux-Dion, Maxime
Boyes, Laura
Sharif, Saba
Tüysüz, Beyhan
Dunstheimer, Desiree
Niessen, Hans W. M.
Devine, William
Lo, Cecilia W.
Mitchison, Hannah M.
Schmidts, Miriam
Pazour, Gregory J.
- DOI
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10.1371/journal.pgen.1010796
- URN
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urn:nbn:de:bvb:384-opus4-1081320
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:57 MESZ
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Beteiligte
- Bakey, Zeineb
- Cabrera, Oscar A.
- Hoefele, Julia
- Antony, Dinu
- Wu, Kaman
- Stuck, Michael W.
- Micha, Dimitra
- Eguether, Thibaut
- Smith, Abigail O.
- van der Wel, Nicole N.
- Wagner, Matias
- Strittmatter, Lara
- Beales, Philip L.
- Jonassen, Julie A.
- Thiffault, Isabelle
- Cadieux-Dion, Maxime
- Boyes, Laura
- Sharif, Saba
- Tüysüz, Beyhan
- Dunstheimer, Desiree
- Niessen, Hans W. M.
- Devine, William
- Lo, Cecilia W.
- Mitchison, Hannah M.
- Schmidts, Miriam
- Pazour, Gregory J.
- Universität Augsburg
- Public Library of Science (PLoS)
Entstanden
- 2023
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Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
The many faces of congenital anomalies of the kidney and urinary tract
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
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Microridge-like structures anchor motile cilia
Microridge-like structures anchor motile cilia
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
The many faces of congenital anomalies of the kidney and urinary tract
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Ciliary dyneins and dynein related ciliopathies
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Microridge-like structures anchor motile cilia
Microridge-like structures anchor motile cilia
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement