Marco Seri
A5059636774- Platelet Disorders and Treatments
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Cell Adhesion Molecules Research
- Congenital gastrointestinal and neural anomalies
- RNA regulation and disease
- Hereditary Neurological Disorders
- Blood groups and transfusion
- Neurological diseases and metabolism
- RNA and protein synthesis mechanisms
- Cellular transport and secretion
- Congenital heart defects research
- Chronic Lymphocytic Leukemia Research
- Blood disorders and treatments
- Metabolism and Genetic Disorders
- Renal and related cancers
- RNA modifications and cancer
- Immunodeficiency and Autoimmune Disorders
- RNA Research and Splicing
- Prenatal Screening and Diagnostics
- Renal Diseases and Glomerulopathies
- Intestinal Malrotation and Obstruction Disorders
- Ion channel regulation and function
- Mitochondrial Function and Pathology
Azienda USL di Bologna
2020-2025
Medica (Italy)
2007-2024
University of Bologna
2015-2024
Policlinico S.Orsola-Malpighi
2014-2023
Hospital Clínico San Carlos
2023
Instituto de Investigación Sanitaria del Hospital Clínico San Carlos
2023
Centro de Investigación Biomédica en Red de Salud Mental
2023
Bambino Gesù Children's Hospital
2023
Istituti di Ricovero e Cura a Carattere Scientifico
1998-2022
Medical Genetics Center
2016
Abstract In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to novel (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes angiotensin...
Abstract We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines three-step normalization procedure with heterogeneous hidden Markov model algorithm and calling method that classifies genomic regions into five states. validate on three datasets compare results other methods. These analyses show outperforms methods is therefore valuable tool investigation CNVs in largescale projects, as well clinical...
May-Hegglin anomaly, Sebastian syndrome, Fechtner and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical laboratory signs, such as sensorineural hearing loss, cataract, nephritis, polymorphonuclear Döhle-like bodies. Mutations in the MYH9 gene encoding for nonmuscle myosin heavy chain IIA (NMMHC-IIA) have been identified all these syndromes. To understand role mutations, we report molecular defects 12 new cases, which together...
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but infancy or adult life, some them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. No consistent correlations have been identified between 27 different MYH9 so far and variable clinical evolution disease....
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD characterized considerable variability clinical evolution: patients present at birth with only thrombocytopenia, but some of them subsequently develop sensorineural deafness, cataract, and/or nephropathy often leading to end-stage renal (ESRD). We searched genotype-phenotype correlations largest series consecutive collected so far (255...
Abstract Motivation: Runs of homozygosity (ROH) are sizable chromosomal stretches homozygous genotypes, ranging in length from tens kilobases to megabases. ROHs can be relevant for population and medical genetics, playing a role predisposition both rare common disorders. commonly detected by single nucleotide polymorphism (SNP) microarrays, but attempts have been made use whole-exome sequencing (WES) data. Currently available methods developed the analysis uniformly spaced SNP-array maps do...
ETV6-related thrombocytopenia is an autosomal dominant that has been recently identified in a few families and suspected to predispose hematologic malignancies. To gain further information on this disorder, we searched for ETV6 mutations the 130 with inherited of unknown origin from our cohort 274 consecutive pedigrees familial thrombocytopenia. We 20 patients seven pedigrees. They have five different variants, including three novel affecting highly conserved E26 transformation-specific...
Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with DNA (mtDNA) depletion without accumulation of multiple deletions. By whole-exome sequencing, we identified mutations affecting the single-strand binding protein (SSBP1) in 4 families dominant 1 recessive inheritance. show that SSBP1 patient-derived...
ABSTRACT. Podocin mutations (NPHS2 gene) are responsible for the autosomal recessive form of steroid-resistant nephrotic syndrome. As a result screening these gene alterations in cohort Italian patients with nonfamilial syndrome and histologic focal segmental glomerulosclerosis (FSGS), nine NPHS2 homozygous or composite heterozygous were found. In addition to previously described defects, two novel at exon 4 identified (frameshift, L169P); four single nucleotide polymorphisms (SNPs) one...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM* 240300, also called APS 1,) is a rare autosomal recessive disorder that more frequent in certain isolated populations. It generally characterized by two of the three major clinical symptoms may be present, Addison's disease and/or hypoparathyroidism chronic mucocutaneous candidiasis. Patients have number other including gastritis, gonadal failure, and rarely, autoimmune thyroid insulin-dependent diabetes mellitus....
Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern populations. FMF is a Mendelian autosomic recessive linked to MEFV, gene of unknown function. BD contrast polyfactorial associated with major histocompatibility complex. Because have epidemiological similarities, we asked whether was implicated BD. We screened for common MEFV mutations cohort 114 chromosomes from definite patients [meeting criteria...