CNIO researchers describe new functions of protein that plays key role in some tumors and rare diseases
(Centro Nacional de Investigaciones Oncol ó gicas (CNIO)) Cohesin is a protein complex that plays a key role in cell division; its role in 3D genome structure was described in recent years. Researchers at CNIO have found new functions in the peculiar 3D genome structure of mouse embryonic stem cells. Research on cohesin will help understand how its malfunction contributes to tumorigenesis in some types of cancer, as well as to rare diseases such as Cornelia de Lange syndrome (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - June 18, 2019 Category: Cancer & Oncology Source Type: news

What Causes Microcephaly?
Patient Presentation A 5-month-old male came to clinic for his health supervision visit and followup from his neonatal intensive care stay. He was born prematurely at 28 weeks gestation and his stay was complicated by a right sided Grade III intraventricular hemorrhage, a left-sided Grade IV intraventricular hemorrhage, neonatal seizures, respiratory distress and bronchopulmonary dysplasia, retinopathy of prematurity, acute kidney injury that had resolved, possible necrotizing enterocolitis incidents x 2, and herpes simplex encephalitis. He was on home oxygen, a nasogastric feeding tube because of aspiration risk and mult...
Source: PediatricEducation.org - September 25, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

DNA discovery could help shed light on rare childhood disorder
(University of Edinburgh) Fresh analysis of how our cells store and manage DNA when they undergo cell division could give valuable insights into a rare developmental condition known as Cornelia de Lange syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 21, 2017 Category: International Medicine & Public Health Source Type: news

Zebrafish study sheds new light on human heart defects
Researchers working with zebrafish have published a study providing new insights into the causes of the congenital heart defects associated with a rare developmental disorder. The disorder, Cornelia de Lange Syndrome (CdLS), is estimated to occur in up to one in 10,000 births worldwide. CdLS causes a range of developmental anomalies, both physical and cognitive, and up to 70 percent of people with CdLS have congenital heart defects. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - October 16, 2015 Category: Science Source Type: news

Zebrafish study sheds new light on human heart defects
(University of Otago) Researchers working with zebrafish at New Zealand's University of Otago have published a study providing new insights into the causes of the congenital heart defects associated with a rare developmental disorder.The disorder, Cornelia de Lange Syndrome (CdLS), is estimated to occur in up to one in 10,000 births worldwide. CdLS causes a range of developmental anomalies, both physical and cognitive, and up to 70 percent of people with CdLS have congenital heart defects. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - October 15, 2015 Category: Biology Source Type: news