Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations (Q24300830)

determination of left/right symmetry

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

dyskinesia

1 reference

primary ciliary dyskinesia

inferred from title

1 reference

7

Heike Olbrich

Heike

Olbrich

1 reference

26 November 2023

17

Heymut Omran

Heymut

Omran

1 reference

26 November 2023

13

Stefan Mundlos

Stefan

Mundlos

1 reference

26 November 2023

Stilianos Antonarakis

object named as

Stylianos E Antonarakis

18

Stylianos E

Antonarakis

1 reference

26 November 2023

Georg C Schwabe

1

Georg C

Schwabe

1 reference

26 November 2023

Katrin Hoffmann

2

Katrin

Hoffmann

1 reference

26 November 2023

Niki Tomas Loges

3

Niki Tomas

Loges

1 reference

26 November 2023

Daniel Birker

4

Daniel

Birker

1 reference

26 November 2023

Colette Rossier

5

Colette

Rossier

1 reference

26 November 2023

Margherita M de Santi

6

Margherita M

de Santi

1 reference

26 November 2023

Manfred Fliegauf

8

Manfred

Fliegauf

1 reference

26 November 2023

Mike Failly

9

Mike

Failly

1 reference

26 November 2023

Uta Liebers

10

Uta

Liebers

1 reference

26 November 2023

Mirella Collura

11

Mirella

Collura

1 reference

26 November 2023

Gerhard Gaedicke

12

Gerhard

Gaedicke

1 reference

26 November 2023

Ulrich Wahn

14

Ulrich

Wahn

1 reference

26 November 2023

Jean-Louis Blouin

15

Jean-Louis

Blouin

1 reference

26 November 2023

Bodo Niggemann

16

Bodo

Niggemann

1 reference

26 November 2023

Lucia Bartoloni

19

Lucia

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

Bartoloni

1 reference

26 November 2023

language of work or name

English

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publication date

February 2008

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published in

Human Mutation

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volume

29

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issue

2

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page(s)

289-98

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

Characterization of an axonemal dynein heavy chain expressed early in airway epithelial ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

A Human Syndrome Caused by Immotile Cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

The dynein heavy chain: structure, mechanics and evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Abnormal cilia in a male-sterile mutant mouse.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Cilia-lacking respiratory cells in ciliary aplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20656

1 reference

7 January 2021

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Situs inversus in homozygous mice without immotile cilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

The dynein microtubule motor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Allele-sharing models: LOD scores and accurate linkage tests

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

PCD and RP: X-linked inheritance of both disorders?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Design and regulation of the AAA+ microtubule motor dynein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

Genetic defects in ciliary structure and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20656

7 January 2021