(Q24546353)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Anu Sironen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Magnus Andersson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Virpi Ahola

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Johanna Vilkki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

English

0 references

publication date

20 March 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

18 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

5006-5011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

The 9 + 2 axoneme anchors multiple inner arm dyneins and a network of kinases and phosphatases that control motility

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Rotation of the central pair microtubules in eukaryotic flagella

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

A new mathematical model for relative quantification in real-time RT-PCR

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Functional genomics of the cilium, a sensory organelle

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Haploinsufficiency for the murine orthologue of Chlamydomonas PF20 disrupts spermatogenesis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR

24 March 2017

2 references

Crossref

https://api.crossref.org/works/10.1073/PNAS.0506318103

22 April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

The recent evolution of human L1 retrotransposons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Patterns of expression of sperm flagellar genes: early expression of genes encoding axonemal proteins during the spermatogenic cycle and shared features of promoters of genes encoding central apparatus proteins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

27 September 2017

Cilia-related diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Cpc1, a Chlamydomonas central pair protein with an adenylate kinase domain.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Cilia, primary ciliary dyskinesia and molecular genetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Molecular Architecture of the Sperm Flagella: Molecules for Motility and Signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

The vertebrate primary cilium is a sensory organelle

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Intraflagellar transport and cilia-dependent 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=1458785

Mapping of an immotile short tail sperm defect in the Finnish Yorkshire on porcine Chromosome 16.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Exploring the molecular basis of Bardet-Biedl syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Towards an understanding of the genetics of human male infertility: lessons from flies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

A large-fragment porcine genomic library resource in a BAC vector

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Central-pair microtubular complex of Chlamydomonas flagella: polypeptide composition as revealed by analysis of mutants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Cloning and characterization of KPL2, a novel gene induced during ciliogenesis of tracheal epithelial cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458785

Assisted reproduction for infertile patients with 9 + 0 immotile spermatozoa associated with autosomal dominant polycystic kidney disease.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0506318103

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16549801

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

'9 + 0' axoneme in spermatozoa and some nasal cilia of a patient with totally immotile spermatozoa associated with thickened sheath and short midpiece

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16549801

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0506318103

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

ADS bibcode

2006PNAS..103.5006S

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549801%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

2 references