Emerging principles of primary cilia dynamics in controlling tissue organization and function

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: The EMBO journal, 42 (2023), 21, e113891. https://doi.org/10.15252/embj.2023113891. ISSN: 1460-2075
In: The EMBO journal
In: 42
In: 21
In: 1460-2075

Event: Veröffentlichung

(where): Hohenheim

(who): Universität Hohenheim

(when): 2023

Creator: Gopalakrishnan, Jayachandran
Feistel, Kerstin
Friedrich, Benjamin M.
Grapin‐Botton, Anne
Jurisch‐Yaksi, Nathalie
Mass, Elvira
Mick, David U.
Müller, Roman‐Ulrich
May‐Simera, Helen
Schermer, Bernhard
Schmidts, Miriam
Walentek, Peter
Wachten, Dagmar

DOI: 10.15252/embj.2023113891

URN: urn:nbn:de:101:1-2411130119420.175026050897

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:26 AM CEST

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Associated

Gopalakrishnan, Jayachandran
Feistel, Kerstin
Friedrich, Benjamin M.
Grapin‐Botton, Anne
Jurisch‐Yaksi, Nathalie
Mass, Elvira
Mick, David U.
Müller, Roman‐Ulrich
May‐Simera, Helen
Schermer, Bernhard
Schmidts, Miriam
Walentek, Peter
Wachten, Dagmar
Universität Hohenheim

Time of origin

2023

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Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1

Emerging principles of primary cilia dynamics in controlling tissue organization and function

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

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Ciliary dyneins and dynein related ciliopathies

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update

Hochschulschrift

Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1

Emerging principles of primary cilia dynamics in controlling tissue organization and function

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

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Ciliary dyneins and dynein related ciliopathies

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update

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Emerging principles of primary cilia dynamics in controlling tissue organization and function

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Other Objects (12)

Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1

Emerging principles of primary cilia dynamics in controlling tissue organization and function

Emerging principles of primary cilia dynamics in controlling tissue organization and function

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

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Ciliary dyneins and dynein related ciliopathies

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update

Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1

Emerging principles of primary cilia dynamics in controlling tissue organization and function

Emerging principles of primary cilia dynamics in controlling tissue organization and function

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

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Ciliary dyneins and dynein related ciliopathies

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update

Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1

Emerging principles of primary cilia dynamics in controlling tissue organization and function

Emerging principles of primary cilia dynamics in controlling tissue organization and function

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

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Ciliary dyneins and dynein related ciliopathies

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update

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