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 (Q28566329)

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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

PubMed publication ID

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

PubMed publication ID

31 January 2017

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cerebellar hypoplasia

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inferred from title

Ferdinando Di Cunto

26

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17

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Natascia Ventura

25

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Natascia Ventura

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ORCID Public Data File 2021

Alfonso Schiavi

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Alfonso Schiavi

3

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Federico T Bianchi

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Federico T. Bianchi

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Filippo Tempia

19

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Saverio Francesco Retta

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Saverio Francesco Retta

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Alfredo Brusco

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Giovanni Stevanin

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Giovanni Stevanin

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Orsetta Zuffardi

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Orsetta Zuffardi

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Alexandra Durr

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PubMed publication ID

31 January 2017

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Sylvie Forlani

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Eleonora Di Gregorio

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Eleonora Di Gregorio

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Daniela Lacerenza

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Daniela Lacerenza

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Alessandro Calcia

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Alessandro Calcia

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Cecilia Marelli

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Cecilia Marelli

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31 January 2017

author name string

Alessandra M. A. Chiotto

4

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31 January 2017

Marco Rolando

5

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31 January 2017

Ludovica Verdun di Cantogno

6

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31 January 2017

Enrico Grosso

7

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31 January 2017

Simona Cavalieri

8

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31 January 2017

Francesca Montarolo

18

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31 January 2017

Hilary E. Beggs

20

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31 January 2017

Robin Reed

21

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31 January 2017

Stefania Squadrone

22

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31 January 2017

Maria C. Abete

23

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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

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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

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31 January 2017

X-linked disorders with cerebellar dysgenesis

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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

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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

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19 March 2017

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

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19 March 2017

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

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19 March 2017

Control of axonal branching and synapse formation by focal adhesion kinase

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19 March 2017

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

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19 March 2017

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

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19 March 2017

Maintenance of C. elegans

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7 April 2017

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

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7 April 2017

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

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29 September 2017

Cerebellum: links between development, developmental disorders and motor learning

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29 September 2017

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

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29 September 2017

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

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29 September 2017

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

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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

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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

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3 June 2018

Non-progressive congenital ataxias

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3 June 2018

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

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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.

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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.

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21 January 2018

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

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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

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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.

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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

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

21 January 2018

X-linked congenital ataxia: A clinical and genetic study

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12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1136/JMEDGENET-2013-101542

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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