Elife
March 2025
Department of Surgery, Weill Cornell Medicine, New York, United States.
Haploinsufficiency for is associated with congenital heart disease (CHD) with variable comorbidity of pancreatic or diaphragm defects, although the etiology of disease is not well understood. Here, we used cardiac directed differentiation from human embryonic stem cells (hESCs) as a platform to study GATA6 function during early cardiogenesis. GATA6 loss-of-function hESCs had a profound impairment in cardiac progenitor cell (CPC) specification and cardiomyocyte (CM) generation due to early defects during the mesendoderm and lateral mesoderm patterning stages.
View Article and Find Full Text PDFJ Contemp Dent Pract
December 2024
Department of Orthodontics, RRDC&H, Bengaluru, Karnataka, India.
Aim: The present study was undertaken to analyze the facial features in class III patients by measuring the facial frontal (linear) parameters and profile (angular) parameters and correlate them with parents to determine the inheritance of facial features.
Materials And Methods: The sample consisted of 40 class III patients aged between 9 and 18 years based on skeletal ANB angle (less than 0 degrees) and Angle's class III classification. Frontal and profile photographs of the subjects and parents were taken in a standardized position according to ABO guidelines.
JAMA Ophthalmol
March 2025
UCL Institute of Ophthalmology, London, United Kingdom.
Importance: Understanding the pathogenic mechanisms of Fuchs endothelial corneal dystrophy (FECD) could contribute to developing gene-targeted therapies.
Objective: To investigate associations between demographic data and age at first keratoplasty in a genetically refined FECD cohort.
Design, Setting, And Participants: This retrospective cohort study recruited 894 individuals with FECD at Moorfields Eye Hospital (London) and General University Hospital (Prague) from September 2009 to July 2023.
Ann Med
December 2025
Cancer Center, The First Hospital of Jilin University, Changchun, China.
Introduction: Since the Fourth edition of the WHO classification, PPGLs have been recognized for their metastatic potential, though no clear features can accurately predict this behavior. The prognostic value of Ki-67 in assessing the risk of progression, relapse, or metastasis in PPGLs remains debated.
Methods: This cohort study included 501 patients diagnosed with PPGLs at the First Hospital of Jilin University between 2000 and 2022, with clinical data, treatment details, pathological indicators, and germline gene test results collected.
Cell Physiol Biochem
January 2025
Pomeranian University in Słupsk, Institute of Biology, Arciszewski St. 22 B, PL 76-200 Słupsk, Poland.
Background/aims: DNA isolation is the initial process in genetic research. The product is used in many PCR reactions (PCR-RFLP, Real-Time PCR, multiplex PCR). That is why it is important to optimize DNA isolation protocol to obtain a good quality of DNA.
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