(Q28566329)

English

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

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scholarly article

1 reference

31 January 2017

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia (English)

1 reference

31 January 2017

0 references

1 reference

based on heuristic

inferred from title

cerebellar hypoplasia

1 reference

based on heuristic

inferred from title

Ferdinando Di Cunto

26

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17

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Natascia Ventura

25

object named as

Natascia Ventura

1 reference

ORCID Public Data File 2021

Alfonso Schiavi

object named as

Alfonso Schiavi

3

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Federico T Bianchi

object named as

Federico T. Bianchi

2

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object named as

Filippo Tempia

19

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Saverio Francesco Retta

object named as

Saverio Francesco Retta

12

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object named as

Alfredo Brusco

27

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Giovanni Stevanin

object named as

Giovanni Stevanin

13

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Orsetta Zuffardi

object named as

Orsetta Zuffardi

11

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15

object named as

Alexandra Durr

1 reference

31 January 2017

16

object named as

Sylvie Forlani

1 reference

31 January 2017

Eleonora Di Gregorio

1

object named as

Eleonora Di Gregorio

1 reference

31 January 2017

Daniela Lacerenza

10

object named as

Daniela Lacerenza

1 reference

31 January 2017

Alessandro Calcia

9

object named as

Alessandro Calcia

1 reference

31 January 2017

Cecilia Marelli

14

object named as

Cecilia Marelli

1 reference

31 January 2017

author name string

Alessandra M. A. Chiotto

4

1 reference

31 January 2017

Marco Rolando

5

1 reference

31 January 2017

Ludovica Verdun di Cantogno

6

1 reference

31 January 2017

Enrico Grosso

7

1 reference

31 January 2017

Simona Cavalieri

8

1 reference

31 January 2017

Francesca Montarolo

18

1 reference

31 January 2017

Hilary E. Beggs

20

1 reference

31 January 2017

Robin Reed

21

1 reference

31 January 2017

Stefania Squadrone

22

1 reference

31 January 2017

Maria C. Abete

23

1 reference

31 January 2017

Alessandro Brussino

24

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31 January 2017

language of work or name

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publication date

1 August 2013

1 reference

31 January 2017

Journal of Medical Genetics

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31 January 2017

50

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31 January 2017

8

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31 January 2017

543–551

1 reference

31 January 2017

X-linked disorders with cerebellar dysgenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

19 March 2017

THOC5/FMIP, an mRNA export TREX complex protein, is essential for hematopoietic primitive cell survival in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

19 March 2017

Functional characterization of KIN-32, the Caenorhabditis elegans homolog of focal adhesion kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

19 March 2017

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

19 March 2017

Niche-independent symmetrical self-renewal of a mammalian tissue stem cell

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

19 March 2017

Control of axonal branching and synapse formation by focal adhesion kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

19 March 2017

FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

19 March 2017

Expression of an N-terminally truncated form of human focal adhesion kinase in brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

19 March 2017

Maintenance of C. elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

7 April 2017

Reduced cell motility and enhanced focal adhesion contact formation in cells from FAK-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

7 April 2017

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

Cerebellum: links between development, developmental disorders and motor learning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

Transcriptional interference by RNA polymerase pausing and dislodgement of transcription factors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

The interface between transcription and mRNP export: from THO to THSC/TREX-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

p53/CEP-1 increases or decreases lifespan, depending on level of mitochondrial bioenergetic stress.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

Thoc1 deficiency compromises gene expression necessary for normal testis development in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

TREX, SR proteins and export of mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

Focal adhesion kinase suppresses apoptosis by binding to the death domain of receptor-interacting protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

29 September 2017

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

3 June 2018

Effects of FAK ablation on cerebellar foliation, Bergmann glia positioning and climbing fiber territory on Purkinje cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

3 June 2018

Non-progressive congenital ataxias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

3 June 2018

X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101542

21 January 2018

Focal adhesion kinase regulates neuronal growth, synaptic plasticity and hippocampus-dependent spatial learning and memory.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101542

21 January 2018

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101542

21 January 2018

Time constraints and positional cues in the developing cerebellum regulate Purkinje cell placement in the cortical architecture.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101542

21 January 2018

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101542

21 January 2018

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

27 November 2018

Impairment in shifting attention in autistic and cerebellar patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133931

27 November 2018

Developments in neuronal cell culture

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101542

21 January 2018

X-linked congenital ataxia: A clinical and genetic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/23749989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMEDGENET-2013-101542

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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