(Q24307830)

Dynein axonemal light intermediate chain 1

1 reference

Armadillo repeat containing 4

1 reference

Dynein axonemal heavy chain 9

1 reference

Dynein axonemal heavy chain 5

1 reference

Dynein, axonemal, heavy chain 5

1 reference

Armadillo repeat containing 4

1 reference

primary ciliary dyskinesia

dyskinesia

1 reference

based on heuristic

inferred from title

1 reference

27

Nicholas Katsanis

Nicholas

Katsanis

1 reference

19 October 2023

10

Heike Olbrich

Heike

Olbrich

1 reference

19 October 2023

28

Heymut Omran

Heymut

Omran

1 reference

19 October 2023

7

Rama Damerla

Rama

Damerla

1 reference

19 October 2023

Davut Pehlivan

15

Davut

Pehlivan

1 reference

19 October 2023

Anna Lindstrand

2

Anna

Lindstrand

1 reference

19 October 2023

Rim Hjeij

1

Rim

Hjeij

1 reference

19 October 2023

Richard Francis

3

Richard

Francis

1 reference

19 October 2023

16

Claudius Werner

Claudius

Werner

1 reference

19 October 2023

21

James R Lupski

James R

Lupski

1 reference

19 October 2023

4

Maimoona A Zariwala

Maimoona A

Zariwala

1 reference

19 October 2023

Xiaoqin Liu

5

Xiaoqin

Liu

1 reference

19 October 2023

You Li

6

You

Li

1 reference

19 October 2023

Gerard W Dougherty

8

Gerard W

Dougherty

1 reference

19 October 2023

Marouan Abouhamed

9

Marouan

Abouhamed

1 reference

19 October 2023

Niki T Loges

11

Niki T

Loges

1 reference

19 October 2023

Petra Pennekamp

12

Petra

Pennekamp

1 reference

19 October 2023

Erica E Davis

13

Erica E

Davis

1 reference

19 October 2023

Claudia M B Carvalho

14

Claudia M B

Carvalho

1 reference

19 October 2023

Johanna Raidt

17

Johanna

Raidt

1 reference

19 October 2023

Gabriele Köhler

18

Gabriele

Köhler

1 reference

19 October 2023

Karsten Häffner

19

Karsten

Häffner

1 reference

19 October 2023

Miguel Reyes-Mugica

20

Miguel

Reyes-Mugica

1 reference

19 October 2023

Margaret W Leigh

22

Margaret W

Leigh

1 reference

19 October 2023

Margaret Rosenfeld

23

Margaret

Rosenfeld

1 reference

19 October 2023

Lucy C Morgan

24

Lucy C

Morgan

1 reference

19 October 2023

Michael R Knowles

25

Michael R

Knowles

1 reference

19 October 2023

Cecilia W Lo

26

Cecilia W

American Journal of Human Genetics

Lo

1 reference

19 October 2023

language of work or name

English

0 references

publication date

8 August 2013

0 references

published in

0 references

volume

93

0 references

issue

2

0 references

page(s)

357-67

0 references

cites work

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Tissue expression patterns identify mouse cilia genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

When cilia go bad: cilia defects and ciliopathies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Proteomic analysis of a eukaryotic cilium

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Armadillo-repeat protein functions: questions for little creatures

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Ciliary dysfunction in developmental abnormalities and diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Cardiovascular assessment of fetal mice by in utero echocardiography

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Identification of novel lung genes in bronchial epithelium by serial analysis of gene expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

A proteomic analysis of human cilia: identification of novel components

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Flagellar motility is required for the viability of the bloodstream trypanosome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Primary ciliary dyskinesia: diagnostic and phenotypic features.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738828

Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23849778

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.06.009

1 reference

release_y7g4gn7wtrf7pjezu67cgeojri

3253637

Fatcat ID

0 references

3253637

1 reference

1 reference

1 reference