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ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
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instance of
scholarly article
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title
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
(English)
0 references
main subject
Zinc finger MYND-type containing 10
1 reference
stated in
GOA release 2020-03-11
motile cilium assembly
1 reference
stated in
GOA release 2020-03-11
dyskinesia
1 reference
based on heuristic
inferred from title
primary ciliary dyskinesia
1 reference
based on heuristic
inferred from title
author
Friedhelm Hildebrandt
series ordinal
58
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Heike Olbrich
series ordinal
17
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Heymut Omran
series ordinal
56
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Eamonn Sheridan
series ordinal
19
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Dagmar Wieczorek
series ordinal
41
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Brian Mitchell
series ordinal
53
object named as
Brian J Mitchell
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Philip C Spear
object named as
Philip C Spear
series ordinal
12
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Sharon D. Dell
object named as
Sharon D Dell
series ordinal
8
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Shawn Levy
object named as
Shawn Levy
series ordinal
48
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Edgar A. Otto
object named as
Edgar A Otto
series ordinal
55
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Katrina A Diaz
object named as
Katrina A Diaz
series ordinal
16
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Rim Hjeij
object named as
Rim Hjeij
series ordinal
7
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Heon Yung Gee
object named as
Heon Yung Gee
series ordinal
2
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Claudius Werner
series ordinal
32
object named as
Claudius Werner
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Maimoona A Zariwala
series ordinal
1
object named as
Maimoona A Zariwala
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Toby Hurd
series ordinal
6
object named as
Toby W Hurd
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Jan Halbritter
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21
object named as
Jan Halbritter
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Moumita Chaki
series ordinal
9
object named as
Moumita Chaki
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Rannar Airik
series ordinal
37
object named as
Rannar Airik
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Iain A Drummond
series ordinal
54
object named as
Iain A Drummond
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Thillai Sivakumar Natarajan
series ordinal
38
object named as
Sivakumar Natarajan
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Jonathan D Porath
series ordinal
22
object named as
Jonathan D Porath
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Gerard W Dougherty
series ordinal
10
object named as
Gerard W Dougherty
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Julian Esteve-Rudd
series ordinal
13
object named as
Julian Esteve-Rudd
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Niki Tomas Loges
series ordinal
14
object named as
Niki T Loges
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Margaret Rosenfeld
series ordinal
15
object named as
Margaret Rosenfeld
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Whitney E Wolf
series ordinal
18
object named as
Whitney E Wolf
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Svjetlana Lovric
series ordinal
24
object named as
Svjetlana Lovric
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Daw-Yang Hwang
series ordinal
25
object named as
Daw-Yang Hwang
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Thomas W Ferkol
series ordinal
28
object named as
Thomas W Ferkol
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Scott D Sagel
series ordinal
29
object named as
Scott D Sagel
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Kenneth N Olivier
series ordinal
30
object named as
Kenneth N Olivier
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Johanna Raidt
series ordinal
33
object named as
Johanna Raidt
0 references
Petra Pennekamp
series ordinal
34
object named as
Petra Pennekamp
0 references
Shuling Fan
series ordinal
49
object named as
Shuling Fan
0 references
Małgorzata Kurkowiak
series ordinal
3
object named as
Małgorzata Kurkowiak
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author name string
Dalal A Al-Mutairi
series ordinal
4
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Margaret W Leigh
series ordinal
5
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Mohamed Adan
series ordinal
11
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Trevor F C Batten
series ordinal
20
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Stefan Kohl
series ordinal
23
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Jessica E Pittman
series ordinal
26
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Kimberlie A Burns
series ordinal
27
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Lucy C Morgan
series ordinal
31
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Zhaoxia Sun
series ordinal
35
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Weibin Zhou
series ordinal
36
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Susan J Allen
series ordinal
39
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Israel Amirav
series ordinal
40
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Kerstin Landwehr
series ordinal
42
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Kim Nielsen
series ordinal
43
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Nicolaus Schwerk
series ordinal
44
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Jadranka Sertic
series ordinal
45
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Gabriele Köhler
series ordinal
46
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Joseph Washburn
series ordinal
47
0 references
Cordula Koerner-Rettberg
series ordinal
50
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Serge Amselem
series ordinal
51
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David S Williams
series ordinal
52
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Michael R Knowles
series ordinal
57
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language of work or name
English
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publication date
8 August 2013
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published in
American Journal of Human Genetics
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volume
93
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issue
2
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page(s)
336-45
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cites work
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Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia
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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
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19 March 2017
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
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19 March 2017
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
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PubMed Central
reference URL
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A systematic approach to mapping recessive disease genes in individuals from outbred populations
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Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
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DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
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Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
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19 March 2017
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
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Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis
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19 March 2017
Identification of cilia genes that affect cell-cycle progression using whole-genome transcriptome analysis in Chlamydomonas reinhardtti
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27 September 2017
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
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Tumor suppressor BLU inhibits proliferation of nasopharyngeal carcinoma cells by regulation of cell cycle, c-Jun N-terminal kinase and the cyclin D1 promoter
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27 September 2017
Actin and microtubules drive differential aspects of planar cell polarity in multiciliated cells
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27 September 2017
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
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PubMed Central
reference URL
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27 September 2017
Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning
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PubMed Central
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27 September 2017
Genetic defects in ciliary structure and function
1 reference
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PubMed Central
reference URL
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27 September 2017
Cell biology of normal and abnormal ciliogenesis in the ciliated epithelium
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27 September 2017
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
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29 November 2018
Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738827
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29 November 2018
Primary ciliary dyskinesia: diagnostic and phenotypic features.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738827
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29 November 2018
Reconstructions of centriole formation and ciliogenesis in mammalian lungs.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738827
retrieved
29 November 2018
Linking cilia to Wnts
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23891469
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.AJHG.2013.06.007
0 references
PMCID
3738827
0 references
PubMed ID
23891469
0 references
ResearchGate publication ID
253333645
0 references
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