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The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.
Cell Mol Life Sci
October 2024
Laboratory of Molecular Biology, Department of Biochemistry and Molecular Pharmacology, Istituto Di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy.
The Cornelia de Lange syndrome (CdLS) is a rare genetic disease, which is characterized by a cohesinopathy. Mutations of the NIPBL gene are observed in 65% of CdLS patients. A novel iPSC (induced Pluripotent Stem Cell) line was reprogrammed from the leukocytes of a CdLS patient carrying a missense mutation of the NIPBL gene.
View Article and Find Full Text PDFAnalysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study.
Front Pediatr
August 2024
Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Background: Neonatal deaths often result from preventable conditions that can be addressed with appropriate interventions. This study aims to analyze the distribution of the causes of neonatal death and explore genetic variations that lead to congenital anomalies in Northwest China.
Methods: This multi-center observational study was conducted across six medical centers in Shaanxi province, Northwest China.
Trio-based whole exome sequencing in patients with ectopic posterior pituitary.
Front Pediatr
August 2024
Pediatric Endocrinology Unit, Pediatric Department, Irmandade da Santa Casa de Misericórdia de São Paulo and Santa Casa de Sao Paulo School of Medical Sciences, São Paulo, Brazil.
Introduction: Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved.
Objective: To search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases.
Molecular Differences With Therapeutic Implications in Early-Onset Compared With Average-Onset Biliary Tract Cancers.
JCO Precis Oncol
August 2024
Department of Hematology-Oncology, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH.
Article Synopsis
- The study investigates the molecular characteristics of early-onset biliary tract cancer (eoBTC) compared to average-onset biliary tract cancer (aoBTC) using data from 5,587 patients, with a focus on understanding biological differences and treatment implications.
- Findings showed that eoBTC has a higher prevalence of certain genetic fusions, specifically the FGFR2 fusion, and distinct immune marker profiles compared to aoBTC, suggesting that eoBTC may have unique biological traits.
- The median overall survival rate was better for eoBTC (16.5 months) compared to aoBTC (13.3 months), highlighting the significance of genetic testing for personalized treatment options in eoBTC patients.
[Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2024
Antenatal Diagnostic Center, Jinan Maternity and Child Health Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Health Care Hospital), Jinan, Shandong 250001, China.
Article Synopsis
- - The study aimed to investigate the genetic cause of a fetus with nuchal cystic hygroma and cholecystomegaly by performing genetic tests on a 27-year-old woman's samples collected during her pregnancy.
- - Various genetic analyses, including chorionic villus sampling and whole exome sequencing, revealed a novel harmful variant in the NIPBL gene associated with Cornelia de Lange syndrome (CdLS) in the fetus, despite normal results in initial chromosomal testing.
- - The findings suggest that this unique NIPBL gene variant contributes to the development of CdLS and adds new information to the known mutations of this gene in the medical literature.
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