Articles with "pitx2" as a keyword



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Benzyl butyl phthalate decreases myogenic differentiation of endometrial mesenchymal stem/stromal cells through miR-137-mediated regulation of PITX2

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Published in 2017 at "Scientific Reports"

DOI: 10.1038/s41598-017-00286-6

Abstract: Phthalate, an environmental toxin, has been considered as an endocrine-disrupting chemical. Growing evidence has demonstrated links between endocrine-disrupting chemicals, tissue development, and reproductive physiology, but the mechanisms of gene expression regulation by environmental factors that… read more here.

Keywords: mir 137; endometrial mesenchymal; differentiation; mesenchymal stem ... See more keywords
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PITX2c impairment electrical remodeling increases susceptibility to atrial fibrillation

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Published in 2023 at "Europace"

DOI: 10.1093/europace/euad122.583

Abstract: Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): the National Research Foundation of Korea (NRF) grants funded by the Korea government (MSIT), the Korean Fund for Regenerative… read more here.

Keywords: atrial cardiomyocytes; electrical remodeling; pitx2c; pitx2 ... See more keywords
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PITX2 deficiency and associated human disease: insights from the zebrafish model

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Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy074

Abstract: Abstract The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1, an autosomal dominant condition characterized by variable… read more here.

Keywords: associated human; pitx2 deficiency; disease; pitx2 ... See more keywords
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Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.

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Published in 2019 at "Oral diseases"

DOI: 10.1111/odi.13196

Abstract: OBJECTIVES To investigate the mutations in Axenfeld-Rieger syndrome (ARS) patients and the pattern of PITX2-related tooth agenesis. METHODS Whole-exome sequencing (WES) and copy number variations (CNV) array were used to screen the mutations in four… read more here.

Keywords: agenesis; pitx2 related; tooth agenesis; related tooth ... See more keywords
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PITX2 Knockout Induces Key Findings of Electrical Remodeling as Seen in Persistent Atrial Fibrillation

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Published in 2023 at "Circulation: Arrhythmia and Electrophysiology"

DOI: 10.1161/circep.122.011602

Abstract: Background: Electrical remodeling in human persistent atrial fibrillation is believed to result from rapid electrical activation of the atria, but underlying genetic causes may contribute. Indeed, common gene variants in an enhancer region close to… read more here.

Keywords: pitx2; isogenic control; electrical remodeling; atrial fibrillation ... See more keywords
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Decoding the PITX2-controlled genetic network in atrial fibrillation

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Published in 2022 at "JCI Insight"

DOI: 10.1172/jci.insight.158895

Abstract: Atrial fibrillation (AF), the most common sustained cardiac arrhythmia and a major risk factor for stroke, often arises through ectopic electrical impulses derived from the pulmonary veins (PVs). Sequence variants in enhancers controlling expression of… read more here.

Keywords: network; pitx2 controlled; pitx2; decoding pitx2 ... See more keywords
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A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

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Published in 2019 at "BMC Medical Genetics"

DOI: 10.1186/s12881-019-0840-9

Abstract: BackgroundAxenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been… read more here.

Keywords: exome sequencing; rieger syndrome; family; pitx2 gene ... See more keywords
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Association Between rs2200733 Polymorphism of PITX2 Gene and the Risk of Atrial Fibrillation

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Published in 2023 at "Anatolian Journal of Cardiology"

DOI: 10.14744/anatoljcardiol.2022.2276

Abstract: Background: As observed in recent genetic studies, PITX2 is one of the most popular genes with atrial fibrillation; single nucleotide polymorphism (rs2200733) at chromosome 4q25 (near PITX2) is found to be strongly associated with atrial… read more here.

Keywords: polymorphism; risk atrial; fibrillation; pitx2 ... See more keywords
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Long non‑coding RNA PCAT1 sponges miR‑134‑3p to regulate PITX2 expression in breast cancer.

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Published in 2022 at "Molecular medicine reports"

DOI: 10.3892/mmr.2022.12591

Abstract: Breast cancer (BC) is the most prevalent cancer among women. Long non‑coding (lnc)RNAs and microRNAs (miRs) both regulate the expression of key genes in tumorigenesis. The present study aimed to explore the molecular mechanism of… read more here.

Keywords: cell; pcat1; mir 134; expression ... See more keywords
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Synaptic mechanisms underlying modulation of locomotor-related motoneuron output by premotor cholinergic interneurons

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Published in 2020 at "eLife"

DOI: 10.7554/elife.54170

Abstract: Spinal motor networks are formed by diverse populations of interneurons that set the strength and rhythmicity of behaviors such as locomotion. A small cluster of cholinergic interneurons, expressing the transcription factor Pitx2, modulates the intensity… read more here.

Keywords: synaptic mechanisms; mechanisms underlying; cholinergic interneurons; output ... See more keywords