Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). (Q34461593)

2 August 2017

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). (English)

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primary ciliary dyskinesia

2 August 2017

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10

Michał Witt

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2 August 2017

1

Ewa Ziętkiewicz

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2 August 2017

Zuzanna Bukowy-Bieryllo

5

object named as

Zuzanna Bukowy

1 reference

2 August 2017

3

Katarzyna Voelkel

1 reference

2 August 2017

4

Urszula Skrzypczak

1 reference

2 August 2017

6

Ewa Rutkiewicz

1 reference

2 August 2017

Barbara Nitka

2

1 reference

2 August 2017

Kinga Humińska

7

1 reference

2 August 2017

Hanna Przystałowska

8

1 reference

2 August 2017

Andrzej Pogorzelski

9

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2 August 2017

8 December 2010

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2 August 2017

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2 August 2017

11

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2 August 2017

174

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https://scigraph.springernature.com/pub.10.1186/1465-9921-11-174

2 August 2017

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Ciliary defects and genetics of primary ciliary dyskinesia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Genetic causes of bronchiectasis: primary ciliary dyskinesia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

A haplotype map of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Loss of protein structure stability as a major causative factor in monogenic disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

The International HapMap Project

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

6 July 2018

Estimating allele age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

A locus for primary ciliary dyskinesia maps to chromosome 19q

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Comprehensive human genetic maps: individual and sex-specific variation in recombination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

DNA methylation and the frequency of CpG in animal DNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Molecular evolution of the psi eta-globin gene locus: gibbon phylogeny and the hominoid slowdown

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-11-174

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-11-174

Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-11-174

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-11-174

Primary ciliary dyskinesia: diagnostic and phenotypic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-11-174

Low nucleotide diversity in man

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014902

Dynamic allele-specific oligonucleotide hybridization on solid support

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21143860

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21143860

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DNAI1 mutations explain only 2% of primary ciliary dykinesia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21143860

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1465-9921-11-174

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Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference