Pio D’Adamo
A5075690067- Mitochondrial Function and Pathology
- Genetic Associations and Epidemiology
- Hearing, Cochlea, Tinnitus, Genetics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Hidradenitis Suppurativa and Treatments
- Genomics and Rare Diseases
- ATP Synthase and ATPases Research
- Neonatal Respiratory Health Research
- Metabolism and Genetic Disorders
- Biochemical Analysis and Sensing Techniques
- Amino Acid Enzymes and Metabolism
- RNA modifications and cancer
- Platelet Disorders and Treatments
- Cell Adhesion Molecules Research
- Inflammasome and immune disorders
- Vestibular and auditory disorders
- Connexins and lens biology
- Hereditary Neurological Disorders
- Blood groups and transfusion
- Folate and B Vitamins Research
- Growth Hormone and Insulin-like Growth Factors
- Yersinia bacterium, plague, ectoparasites research
- Cystic Fibrosis Research Advances
- Hemoglobinopathies and Related Disorders
IRCCS Materno Infantile Burlo Garofolo
2015-2025
University of Trieste
2016-2025
University of Split
2016
Istituti di Ricovero e Cura a Carattere Scientifico
2001-2015
Telethon Institute Of Genetics And Medicine
2002-2007
Telethon Foundation
2004
Casa Sollievo della Sofferenza
2001
Universitat de Barcelona
2001
Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with Illumina Infinium platform. In cohorts where sample size was >100, one hundred randomly chosen samples were used for analysis to minimize effect, resulting in a total 1,564 samples. This revealed that structure European population correlates closely geography. The first two PCs highlight diversity...
Leber's hereditary optic neuropathy is a maternally inherited blinding disease caused as result of homoplasmic point mutations in complex I subunit genes mitochondrial DNA. It characterized by incomplete penetrance, only some mutation carriers become affected. Thus, the DNA necessary but not sufficient to cause neuropathy. Environmental triggers and genetic modifying factors have been considered explain its variable penetrance. We measured copy number mass indicators blood cells from...
Variation in the bitter-taste receptor gene, TAS2R38 confers ability to taste 6-n-propylthiouracil (PROP). The objective of this study was relate haplotypes and PROP-tasting phenotypes adiposity a genetically isolated population. We hypothesized that nontaster phenotype would be associated with higher BMI waist circumference (WC) females, dietary restraint mediate relationship.Participants were 540 healthy inhabitants village Carlantino southern Italy who 15-89 years age at time study....
Abstract Leber’s hereditary optic neuropathy (LHON), the most frequent mitochondrial disease, is associated with DNA (mtDNA) point mutations affecting Complex I subunits, usually homoplasmic. This blinding disorder characterized by incomplete penetrance, possibly related to several genetic modifying factors. We recently reported that increased biogenesis in unaffected mutation carriers a compensatory mechanism, which reduces penetrance. Also, environmental factors such as cigarette smoking...
Cystinuria (OMIM 220100) is a common recessive disorder of renal reabsorption cystine and dibasic amino acids that results in nephrolithiasis cystine. Mutations SLC3A1, which encodes rBAT, cause Type I cystinuria, mutations SLC7A9, putative subunit rBAT (bo,+AT), non-Type cystinuria. Here we describe the genomic structure SLC7A9 (13 exons) 28 new this gene that, together with seven previously reported, explain 79% alleles 61 cystinuria patients. These data demonstrate main gene. G105R,...