(Q35576893)

English

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

scientific article published on 10 February 2015

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

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Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation (English)

1 reference

Europe PubMed Central

8 August 2017

0 references

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Pramod Kumar Pal

12

object named as

Pramod Kumar Pal

1 reference

Europe PubMed Central

8 August 2017

8

object named as

Jitender Saini

1 reference

Europe PubMed Central

8 August 2017

3

object named as

Saketh Kapoor

1 reference

Europe PubMed Central

8 August 2017

author name string

Manjunath Netravathi

1

1 reference

Europe PubMed Central

8 August 2017

Renu Kumari

2

1 reference

Europe PubMed Central

8 August 2017

Pushkar Dakle

4

1 reference

Europe PubMed Central

8 August 2017

Manish Kumar Dwivedi

5

1 reference

Europe PubMed Central

8 August 2017

Sumitabho Deb Roy

6

1 reference

Europe PubMed Central

8 August 2017

Paritosh Pandey

7

1 reference

Europe PubMed Central

8 August 2017

Anil Ramakrishna

9

1 reference

Europe PubMed Central

8 August 2017

Devaraddi Navalli

10

1 reference

Europe PubMed Central

8 August 2017

Parthasarathy Satishchandra

11

1 reference

Europe PubMed Central

8 August 2017

Arun Kumar

13

1 reference

Europe PubMed Central

8 August 2017

Mohammed Faruq

14

1 reference

Europe PubMed Central

8 August 2017

publication date

10 February 2015

1 reference

Europe PubMed Central

8 August 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

8 August 2017

16

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Europe PubMed Central

8 August 2017

5

1 reference

Europe PubMed Central

8 August 2017

copyright license

Creative Commons Attribution 4.0 International

10 February 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

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https://scigraph.springernature.com/pub.10.1186/s12881-015-0151-8

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Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Mutations in the telomere capping complex in bone marrow failure and related syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

CTC1 Mutations in a patient with dyskeratosis congenita.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Coordinating tissue interactions: Notch signaling in cardiac development and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Angiopoietin-1/Tie2 signal augments basal Notch signal controlling vascular quiescence by inducing delta-like 4 expression through AKT-mediated activation of beta-catenin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Notch activity induces Nodal expression and mediates the establishment of left-right asymmetry in vertebrate embryos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

12 July 2018

3'-UTR-dependent regulation of mRNA turnover is critical for differential distribution patterns of cyclic gene mRNAs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

26 September 2018

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

26 September 2018

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

26 September 2018

Periodic Lunatic fringe expression is controlled during segmentation by a cyclic transcriptional enhancer responsive to notch signaling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422476

26 September 2018

Identifiers

10.1186/S12881-015-0151-8

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

ResearchGate publication ID

0 references

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