Results 51 to 60 of about 2,646 (162)
Frontiers in Oncology, 2023 Phosphaturic mesenchymal tumor (PMT) is a rare tumor that secretes fibroblast growth factor 23 (FGF23) and causes hypophosphatemia and tumor-induced osteomalacia (TIO).
Tomohisa Sakai +8 more
doaj +1 more source
Prenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +1 more source
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
Nature Communications, 2021 Cornelia de Lange syndrome is a developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The authors, here, by analysing previously identified mutations in BRD4 associated with the disease, reveal that a BRD4 ...
Gabrielle Olley +7 more
doaj +1 more source
BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome
Frontiers in Molecular Biosciences, 2021 Cornelia de Lange Syndrome (CdLS) is a human developmental syndrome with complex multisystem phenotypic features. It has been traditionally considered a cohesinopathy together with other phenotypically related diseases because of their association with ...
Pablo García-Gutiérrez +1 more
doaj +1 more source
Advanced Science, Volume 13, Issue 29, 22 May 2026.This study reveals the molecular mechanism by which the transcription factor FgSge1 regulates mycotoxin biosynthesis and virulence in Fusarium graminearum. FgSge1 binds to the TAARGTTT cis‐element, enabling self‐activation. It recruits the SAGA complex, promotes histone acetylation, and facilitates jet‐like chromatin remodeling, thereby activating ...
Yueqi Zhang +6 more
wiley +1 more source
MicroRNA-99b inhibits NSCLC cell invasion and migration by directly targeting NIPBL.
European review for medical and pharmacological sciences, 2021 Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related death worldwide. microRNAs (miRNAs) have been confirmed as vital regulators of multiple tumors, including NSCLC. The aim of the current study was to explore the biological mechanisms of miR-99b in NSCLC progression.NSCLC tissues and adjacent matched human non-neoplastic lung ...
Xu, J.-X., Liu, C.-M., Ma, C.-P.
openaire +2 more sources
Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects. [PDF]
PLoS Biology, 2016 Elucidating the causes of congenital heart defects is made difficult by the complex morphogenesis of the mammalian heart, which takes place early in development, involves contributions from multiple germ layers, and is controlled by many genes.
Rosaysela Santos +10 more
doaj +1 more source
Autism Research, Volume 19, Issue 5, May 2026.ABSTRACT The etiopathogenesis of Autism Spectrum Disorder (ASD) encompasses complex interactions between genetic and environmental risk factors. The high prevalence of gastrointestinal disorders in autistic individuals has propelled a growing interest in the possible involvement of gut dysbiosis in ASD pathogenesis.
Laura Sandoni +6 more
wiley +1 more source
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome [PDF]
Journal of Applied Genetics, 2012 Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex.
Kuzniacka, Alina +6 more
openaire +2 more sources
Cornelia de Lange syndrome with
BMC Medical Genetics, 2012 Background Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement.
Wierzba Jolanta +10 more
doaj +1 more source