Maria Nicla Loviglio
A5017568554- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Williams Syndrome Research
- Genetics and Neurodevelopmental Disorders
- Nuclear Receptors and Signaling
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Autism Spectrum Disorder Research
- Cardiac Valve Diseases and Treatments
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
Fraunhofer Institute for Interfacial Engineering and Biotechnology
2025
Institut de génétique et de biologie moléculaire et cellulaire
2025
University of Lausanne
2012-2017
Telethon Institute Of Genetics And Medicine
2012
University of Naples Federico II
2012
Istituti di Ricovero e Cura a Carattere Scientifico
2011-2012
Casa Sollievo della Sofferenza
2011-2012
Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation characterized by peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed affected syndrome. Sanger sequencing was...
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements associated with autism spectrum disorders mirror phenotypes obesity/underweight macrocephaly/microcephaly. Such were previously non-overlapping proximal 600 BP4-BP5 interval. These two CNV-prone regions at reciprocally engaged in complex chromatin looping, as...
ABSTRACT Distal 1q21.1 deletions and duplications are associated with variable phenotypes including autism, head circumference height defects. To elucidate which gene(s) responsible for the duplication/deletion-associated phenotypes, we performed gene manipulation in zebrafish mice. We modeled duplication by overexpressing eight human protein-coding genes zebrafish. found that overexpression of CHD1L only led to macrocephaly increased larval body length, whereas chd1l deletion caused...
Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. We investigated cohort 15 individuals with clinical suspicion SMS who showed neither deletion in the critical region nor damaging variants RAI1 using whole exome sequencing. A combination network analysis (co-expression biomedical text mining),...
Transposable elements, as major components of most eukaryotic organisms' genomes, define their structural organization and plasticity. They supply host genomes with functional for example, binding sites the pleiotropic master transcription factor p53 were identified in LINE1, Alu LTR repeats human genome. Similarly, this report we reveal role zebrafish (Danio rerio) EnSpmN6_DR non-autonomous DNA transposon shaping repertoire target genes. The multiple copies embedded responsive elements...