(Q34248589)

31 July 2017

title

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21042561

congenital fibrosis of the extraocular muscles

19 August 2024

main subject

congenital disorder

0 references

0 references

author name string

Xian Yang

1

1 reference

31 July 2017

Koki Yamada

2

1 reference

31 July 2017

Bradley Katz

3

1 reference

31 July 2017

Hongzai Guan

4

1 reference

31 July 2017

Lifei Wang

5

1 reference

31 July 2017

Caroline Andrews

6

1 reference

31 July 2017

Guiqiu Zhao

7

1 reference

31 July 2017

Haoyu Chen

9

1 reference

31 July 2017

Zongzhong Tong

10

1 reference

31 July 2017

Jie Kong

11

1 reference

31 July 2017

Cong Hu

12

1 reference

31 July 2017

Qinglan Kong

13

1 reference

31 July 2017

Guiyun Fan

14

1 reference

31 July 2017

Ze Wang

15

1 reference

31 July 2017

Meizhen Ning

16

1 reference

31 July 2017

Shaoyan Zhang

17

1 reference

31 July 2017

Jinling Xu

18

1 reference

31 July 2017

Kang Zhang

19

1 reference

31 July 2017

Elizabeth C. Engle

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21042561

19 August 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21042561

19 August 2024

publication date

13 October 2010

1 reference

full work available at URL

31 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21042561/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21042561

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21042561/pdf/?tool=EBI

19 August 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21042561

https://europepmc.org/articles/PMC2965570

19 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21042561

https://europepmc.org/articles/PMC2965570?pdf=render

19 August 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21042561

19 August 2024

1 reference

31 July 2017

volume

16

1 reference

31 July 2017

page(s)

2062-2070

1 reference

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

A novel PHOX2A/ARIX mutation in an iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

All kinesin superfamily protein, KIF, genes in mouse and human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965570

A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region

28 October 2018

1 reference

12 December 2020

Congenital fibrosis of the vertically acting extraocular muscles. A new group of dominantly inherited ocular fibrosis with radiologic findings

1 reference

12 December 2020

Mutations in KIF21A are responsible for CFEOM1 worldwide

1 reference

12 December 2020

Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family

1 reference

12 December 2020

Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3

1 reference

12 December 2020

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12

1 reference

12 December 2020

Identifiers

PMC publication ID

2965570

1 reference

31 July 2017

1 reference