A5065284439- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Congenital heart defects research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Hippo pathway signaling and YAP/TAZ
- Prenatal Screening and Diagnostics
- Immune Cell Function and Interaction
- Protease and Inhibitor Mechanisms
- Epigenetics and DNA Methylation
- Fetal and Pediatric Neurological Disorders
- Barrier Structure and Function Studies
- Iron Metabolism and Disorders
- Skin and Cellular Biology Research
- Ubiquitin and proteasome pathways
- Vascular Malformations Diagnosis and Treatment
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Retinal Development and Disorders
- Reproductive System and Pregnancy
- Connective tissue disorders research
- Cancer-related molecular mechanisms research
- Oral and gingival health research
- Cell Adhesion Molecules Research
- MicroRNA in disease regulation
- Dupuytren's Contracture and Treatments
Istituti di Ricovero e Cura a Carattere Scientifico
2020-2025
Azienda Sanitaria Unità Locale di Reggio Emilia
2020-2025
Magna Graecia University
2019
The ability of pathogens to sequester iron from their host cells and proteins affects virulence. Moreover, is required for various innate defense mechanisms as well acquired immune responses. Therefore, intracellular concentration may influence the interplay between system. Here, we investigated whether changes in concentrations ferritin heavy chain (FTH) abundance modulate expression Major Histocompatibility Complex molecules (MHC) susceptibility Natural Killer (NK) cell cytotoxicity. FTH...
ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 sharing major clinical features mainly consisting congenital heart defects, intellectual disability peculiar facial (Congenital Heart Defects, Dysmorphic Facial Features, Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to as ‐related disorder, since then other reports have provided further molecular information....
One of the recently described syndromes emerging from massive study cohorts undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White–Sutton syndrome (WHSUS) (MIM #616364), caused by variants in POGZ gene *614787), located on long arm chromosome 1 (1q21.3). So far, more than 50 individuals have been reported worldwide, although phenotypic features natural history not exhaustively characterized yet. The WHSUS broad includes moderate to...
Lissencephaly describes a group of conditions characterized by the absence normal cerebral convolutions and abnormalities cortical development. To date, at least 20 genes have been identified as involved in pathogenesis this condition. Variants CEP85L, encoding protein regulation neuronal migration, recently described causative lissencephaly with posterior-prevalent involvement cortex an autosomal dominant pattern inheritance. Here, we describe 3-year-old boy slightly delayed psychomotor...
Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis ABCC6 revealed novel homozygous c.4041G > A variant located the last position exon 28 that compromises splicing donor site, resulting shorter messenger RNA. The deletion impairs nucleotide-binding fold region, which crucial for function.