Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach [PDF]
, 2015 Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1%-5% of all live births. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are identified infrequently.
Bleyl, Steven B. +8 more
core +2 more sources
A Functionally Conserved Enhancer is Critical for PGC1A Expression and Thermogenesis in Brown Fat
Advanced Science, EarlyView.An evolutionarily conserved enhancer controls PGC1A expression and thermogenic activation in brown adipose tissue. Integrative multi‐omics analyses identify two BAT‐specific enhancers, with PGC1A‐En1 functioning as the dominant regulatory element that maintains thermogenic capacity across species.
Duo Su +10 more
wiley +1 more source
Heterotaxy syndrome – An unusual cause for bowel obstruction in an adult
South African Journal of RadiologyHeterotaxy syndrome, also known as situs ambiguous, is a spectrum of pathology due to loss of the normal right-to-left asymmetry of the thoraco-abdominal organs.
Radhiya Minty, Tanaka Gomba, Rabia Abid
doaj +1 more source
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence:two case reports and a review of the literature [PDF]
, 2016 Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions.
Bjørsum-Meyer, T. +3 more
core +1 more source
Advanced Science, EarlyView.This study reveals a pivotal epigenetic regulatory role for the histone acetyltransferase p300, demonstrating that its acetylation of histone 3 at lysine 18 and 27 (H3K18ac and H3K27ac), alongside the formation of the p300/BRD4/SP1 complex, drives AR activation and ovarian fibrosis in PCOS.
Zhengquan Zhu +11 more
wiley +1 more source
Multicenter Validation of the Vasoactive-Ventilation-Renal Score as a Predictor of Prolonged Mechanical Ventilation After Neonatal Cardiac Surgery [PDF]
, 2018 Objectives: We sought to validate the Vasoactive-Ventilation-Renal score, a novel disease severity index, as a predictor of outcome in a multicenter cohort of neonates who underwent cardiac surgery. Design: Retrospective chart review.
Cashen, Katherine +7 more
core +1 more source
Advanced Science, EarlyView.We delineate a TGFβ1/SMAD/lnc‐APUE/E‐cadherin axis wherein TGFβ1 signaling activates lnc‐APUE; lnc‐APUE subsequently downregulates E‐cadherin expression via Alu element‐driven STAU1‐mediated decay of CDH1 mRNA, thereby promoting tumor metastasis. Our findings reveal a novel regulatory function for lnc‐APUE within the SMD pathway, elucidate a distinct ...
Song‐Yang Li +10 more
wiley +1 more source
Türk Kardiyoloji Derneği Arşivi, 2014 We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy.
Seçil Kurtulmuş +4 more
doaj +1 more source
PIERCE1 is critical for specification of left-right asymmetry in mice. [PDF]
The specification of left-right asymmetry of the visceral organs is precisely regulated. The earliest breakage of left-right symmetry occurs as the result of leftward flow generated by asymmetric beating of nodal cilia, which eventually induces ...
Baek, IJ +6 more
core +1 more source
Hybrid procedure of bilateral pulmonary artery banding and bilateral ductal stenting in an infant with aortic atresia and interrupted aortic arch [PDF]
, 2014 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/109582/1/ccd25424 ...
Aggarwal, Sanjeev +3 more
core +1 more source