(Q35603247)

English

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

scientific article published on December 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Andrea Superti-Furga

30

object named as

Andrea Superti-Furga

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Sebastian Kalamajski

object named as

Sebastian Kalamajski

3

0 references

Diana Ballhausen

object named as

Diana Ballhausen

8

0 references

object named as

Geert Mortier

20

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John F. Bateman

object named as

John F Bateman

28

0 references

21

object named as

David L Rimoin

1 reference

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9 August 2017

Ralph S. Lachman

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object named as

Ralph S Lachman

1 reference

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9 August 2017

26

object named as

Sheila Unger

1 reference

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9 August 2017

31

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Luisa Bonafé

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9 August 2017

Belinda Campos-Xavier

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object named as

A Belinda Campos-Xavier

1 reference

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9 August 2017

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Gen Nishimura

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9 August 2017

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Shiro Ikegawa

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9 August 2017

author name string

Eric D Boyden

1

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9 August 2017

Trevor L Cameron

4

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9 August 2017

Philippe Suarez

5

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9 August 2017

Goranka Tanackovic

6

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9 August 2017

Generoso Andria

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9 August 2017

Michael D Briggs

9

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9 August 2017

Claire Hartley

10

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Daniel H Cohn

11

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9 August 2017

H Rosemarie Davidson

12

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9 August 2017

Christine Hall

13

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9 August 2017

Pierre-Simon Jouk

15

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9 August 2017

Rainer König

16

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9 August 2017

André Megarbané

17

1 reference

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9 August 2017

R Curtis Rogers

22

1 reference

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9 August 2017

Massimiliano Rossi

23

1 reference

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9 August 2017

Hirotake Sawada

24

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9 August 2017

Richard Scott

25

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Eugenia Ribeiro Valadares

27

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9 August 2017

Matthew L Warman

29

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9 August 2017

language of work or name

0 references

publication date

1 December 2011

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9 August 2017

American Journal of Human Genetics

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9 August 2017

89

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9 August 2017

6

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9 August 2017

767-772

1 reference

Europe PubMed Central

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9 August 2017

Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Molecular motor KIF17 is fundamental for memory and learning via differential support of synaptic NR2A/2B levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Functional interaction between Chfr and Kif22 controls genomic stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

The chromokinesin Kid is required for maintenance of proper metaphase spindle size.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

A functional relationship between NuMA and kid is involved in both spindle organization and chromosome alignment in vertebrate cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

The Second Microtubule-binding Site of Monomeric Kid Enhances the Microtubule Affinity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

The human chromokinesin Kid is a plus end-directed microtubule-based motor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Molecular-pathogenetic classification of genetic disorders of the skeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

12 July 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

25 September 2018

KIF5B and KIF3A/KIF3B kinesins drive MT1-MMP surface exposure, CD44 shedding, and extracellular matrix degradation in primary macrophages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

25 September 2018

Microtubule-dependent matrix metalloproteinase-2/matrix metalloproteinase-9 exocytosis: prerequisite in human melanoma cell invasion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

25 September 2018

Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

25 September 2018

Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234368

25 September 2018

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22152678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22152678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/22152678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trafficking and secretion of matrix metalloproteinase-2 in olfactory ensheathing glial cells: A role in cell migration?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22152678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22152678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2011.10.016

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

ResearchGate publication ID

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