(Q21202852)

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Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

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Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2 (English)

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haploinsufficiency

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1 reference

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Evica Rajcan-Separovic

14

object named as

Evica Rajcan-Separovic

author given names

Evica

author last names

Rajcan-Separovic

1 reference

Dimensions Publication ID

18 August 2022

9

object named as

Carlos Bessa

author given names

Carlos

author last names

Bessa

1 reference

Dimensions Publication ID

18 August 2022

Patricia Maciel

13

object named as

Patricia Maciel

author given names

Patricia

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Maciel

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Dimensions Publication ID

18 August 2022

10

object named as

Bauke Ylstra

author given names

Bauke

author last names

Ylstra

1 reference

Dimensions Publication ID

18 August 2022

object named as

Fátima Lopes

2

author given names

Fátima

author last names

Lopes

1 reference

Dimensions Publication ID

18 August 2022

author name string

Jiadi Wen

1

author given names

Jiadi

author last names

Wen

1 reference

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18 August 2022

Gabriela Soares

3

author given names

Gabriela

author last names

Soares

1 reference

Dimensions Publication ID

18 August 2022

Sandra A Farrell

4

author given names

Sandra A

author last names

Farrell

1 reference

Dimensions Publication ID

18 August 2022

Cara Nelson

5

author given names

Cara

author last names

Nelson

1 reference

Dimensions Publication ID

18 August 2022

Ying Qiao

6

author given names

Ying

author last names

Qiao

1 reference

Dimensions Publication ID

18 August 2022

Sally Martell

7

author given names

Sally

author last names

Martell

1 reference

Dimensions Publication ID

18 August 2022

Chansonette Badukke

8

author given names

Chansonette

author last names

Badukke

1 reference

Dimensions Publication ID

18 August 2022

Suzanne Lewis

11

author given names

Suzanne

author last names

Lewis

1 reference

Dimensions Publication ID

18 August 2022

Nina Isoherranen

12

author given names

Nina

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Isoherranen

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18 August 2022

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publication date

2013

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Orphanet Journal of Rare Diseases

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8

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1

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100

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Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

1 reference

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19 March 2017

Retinoic acid synthesis and signaling during early organogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

19 March 2017

Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism

1 reference

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19 March 2017

Exorcising the exocyst complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

19 March 2017

Analyzing real-time PCR data by the comparative C(T) method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

19 March 2017

RBPJ mutations identified in two families affected by Adams-Oliver syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

19 March 2017

Notch signaling in human development and disease

1 reference

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19 March 2017

Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

19 March 2017

Genetic evidence that oxidative derivatives of retinoic acid are not involved in retinoid signaling during mouse development

1 reference

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19 March 2017

Targeted disruption of mammalian hairy and Enhancer of split homolog-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

19 March 2017

Acidic retinoids synergize with vitamin A to enhance retinol uptake and STRA6, LRAT, and CYP26B1 expression in neonatal lung

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

19 March 2017

Retinoic acid controls the bilateral symmetry of somite formation in the mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

19 March 2017

Disruption of the mouse RBP-J kappa gene results in early embryonic death

1 reference

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19 March 2017

A paradoxical teratogenic mechanism for retinoic acid.

1 reference

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12 September 2017

Comparison of the function and expression of CYP26A1 and CYP26B1, the two retinoic acid hydroxylases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes.

1 reference

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12 September 2017

The multiple roles of Notch signaling during left-right patterning

1 reference

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12 September 2017

Cytochrome P450s in the regulation of cellular retinoic acid metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Cyp26b1 regulates retinoic acid-dependent signals in T cells and its expression is inhibited by transforming growth factor-β.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Multiple cytochrome P-450 genes are concomitantly regulated by vitamin A under steady-state conditions and by retinoic acid during hepatic first-pass metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Anthrax toxins cooperatively inhibit endocytic recycling by the Rab11/Sec15 exocyst

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

The role of CYP26 enzymes in defining appropriate retinoic acid exposure during embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

A comparison of the roles of peroxisome proliferator-activated receptor and retinoic acid receptor on CYP26 regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

The Notch signaling pathway: transcriptional regulation at Notch target genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Restriction of retinoic acid activity by Cyp26b1 is required for proper timing and patterning of osteogenesis during zebrafish development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

How degrading: Cyp26s in hindbrain development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Lipopolysaccharide opposes the induction of CYP26A1 and CYP26B1 gene expression by retinoic acid in the rat liver in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Sec15, a component of the exocyst, promotes notch signaling during the asymmetric division of Drosophila sensory organ precursors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Learning and memory deficits in Notch mutant mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Retinoid production and catabolism: role of diet in regulating retinol esterification and retinoic Acid oxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Differential expression of the retinoic acid-metabolizing enzymes CYP26A1 and CYP26B1 during murine organogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

EBNA2 and Notch signalling in Epstein-Barr virus mediated immortalization of B lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

HES-1 repression of differentiation and proliferation in PC12 cells: role for the helix 3-helix 4 domain in transcription repression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

12 September 2017

Across array comparative genomic hybridization: a strategy to reduce reference channel hybridizations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

27 September 2017

Deletion of chromosome 2 (p11-p13): case report and review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

27 September 2017

Teratogenicity of high vitamin A intake.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

30 May 2018

Notch-Rbpj signaling is required for the development of noradrenergic neurons in the mouse locus coeruleus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Genetic deletion of Cyp26b1 negatively impacts limb skeletogenesis by inhibiting chondrogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Genetic disruption of CYP26B1 severely affects development of neural crest derived head structures, but does not compromise hindbrain patterning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

The retinoic acid metabolising gene, CYP26B1, patterns the cartilaginous cranial neural crest in zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Coordination of symmetric cyclic gene expression during somitogenesis by Suppressor of Hairless involves regulation of retinoic acid catabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Activation of the Notch pathway in Down syndrome: cross-talk of Notch and APP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Minor malformations characteristic of the retinoic acid embryopathy and other birth outcomes in children of women exposed to topical tretinoin during early pregnancy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Mutations in Drosophila sec15 reveal a function in neuronal targeting for a subset of exocyst components

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Developing with lethal RA levels: genetic ablation of Rarg can restore the viability of mice lacking Cyp26a1.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710273

29 November 2018

Facial palsy in individuals with thalidomide embryopathy: frequency and characteristics

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https://pubmed.ncbi.nlm.nih.gov/23837398

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection limits of DNA copy number alterations in heterogeneous cell populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23837398

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asymmetric crying face in a newborn with isotretinoin embryopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/23837398

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1750-1172-8-100

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