(Q37217004)

19 August 2017

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms (English)

1 reference

Sperm associated antigen 1a

19 August 2017

1 reference

primary ciliary dyskinesia

GOA release 2020-03-11

dyskinesia

1 reference

based on heuristic

inferred from title

1 reference

25

1 reference

19 August 2017

39

1 reference

19 August 2017

Daniela A Braun

29

0 references

Emily H Turner

Emily H Turner

34

0 references

Sharon D. Dell

Sharon D Dell

12

0 references

Heon Yung Gee

Heon Yung Gee

24

0 references

Katrina A Diaz

Katrina A Diaz

28

0 references

Rim Hjeij

Rim Hjeij

23

0 references

Claudius Werner

18

Claudius Werner

1 reference

19 August 2017

17

Heike Olbrich

1 reference

19 August 2017

40

Heymut Omran

1 reference

19 August 2017

41

Maimoona A Zariwala

1 reference

19 August 2017

37

Deborah A Nickerson

1 reference

19 August 2017

4

Toby Hurd

1 reference

19 August 2017

26

Jan Halbritter

1 reference

19 August 2017

27

Moumita Chaki

1 reference

19 August 2017

31

Markus Schueler

1 reference

19 August 2017

30

Jonathan D Porath

1 reference

19 August 2017

22

Gerard W Dougherty

1 reference

19 August 2017

3

Niki T Loges

1 reference

19 August 2017

7

Whitney E Wolf

1 reference

19 August 2017

13

Thomas W Ferkol

1 reference

19 August 2017

14

Scott D Sagel

1 reference

19 August 2017

15

Kenneth N Olivier

1 reference

19 August 2017

19

Johanna Raidt

1 reference

19 August 2017

21

Petra Pennekamp

1 reference

19 August 2017

36

Michael J Bamshad

1 reference

19 August 2017

2

Lawrence E Ostrowski

1 reference

19 August 2017

9

Milan J Hazucha

1 reference

19 August 2017

10

Weining Yin

1 reference

19 August 2017

Michael R Knowles

1

1 reference

19 August 2017

Margaret W Leigh

5

1 reference

19 August 2017

Lu Huang

6

1 reference

19 August 2017

Johnny L Carson

8

1 reference

19 August 2017

Stephanie D Davis

11

1 reference

19 August 2017

Charlotte Jahnke

16

1 reference

19 August 2017

Julia Wallmeier

20

1 reference

19 August 2017

György Baktai

32

1 reference

19 August 2017

Matthias Griese

33

1 reference

19 August 2017

Alexandra P Lewis

35

1 reference

19 August 2017

Friedhelm Hildebrandt

38

1 reference

19 August 2017

language of work or name

English

0 references

publication date

19 September 2013

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

93

1 reference

19 August 2017

4

1 reference

19 August 2017

711-720

1 reference

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

DYX1C1 is required for axonemal dynein assembly and ciliary motility

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Fast and accurate long-read alignment with Burrows-Wheeler transform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Disease gene characterization through large-scale co-expression analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

The Sequence Alignment/Map format and SAMtools

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

LRRC50, a conserved ciliary protein implicated in polycystic kidney disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

When cilia go bad: cilia defects and ciliopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Primary ciliary dyskinesia: current state of the art.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Celsius: a community resource for Affymetrix microarray data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Genetic defects in ciliary structure and function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Sperm-associated antigen 1 is expressed early in pancreatic tumorigenesis and promotes motility of cancer cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Characterization of an A-kinase anchoring protein in human ciliary axonemes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

A proteomic analysis of human cilia: identification of novel components

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

A tetratricopeptide repeat-containing protein gene, tpis, whose expression is induced with differentiation of spermatogenic cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

RPGR mutations might cause reduced orientation of respiratory cilia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Well-differentiated human airway epithelial cell cultures.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Primary ciliary dyskinesia: diagnostic and phenotypic features.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791252

Mucociliary differentiation of serially passaged normal human tracheobronchial epithelial cells

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24055112

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.07.025

1 reference

19 August 2017

1 reference

19 August 2017

1 reference