User profiles for R. Cusano

Roberto Cusano

Biotecnologo, CRS4
Verified email at crs4.it
Cited by 4656

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

M Seri, R Cusano, S Gangarossa, G Caridi… - Nature …, 2000 - europepmc.org
The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100),
Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad …

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable …

M Seri, A Pecci, F Di Bari, R Cusano, M Savino… - Medicine, 2003 - journals.lww.com
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are
autosomal dominant macrothrombocytopenias distinguished by different combinations of …

[HTML][HTML] Gut microbiota markers associated with obesity and overweight in Italian adults

…, V Madau, E Casula, A Deledda, R Cusano… - Scientific reports, 2021 - nature.com
In the present study, we characterized the distinctive signatures of the gut microbiota (GM)
from overweight/obese patients (OB), and normal-weight controls (NW), both of Sardinian …

[HTML][HTML] Genetic variants regulating immune cell levels in health and disease

…, R Cusano, F Deidda, V Serra, M Oppo, R Pilu… - Cell, 2013 - cell.com
The complex network of specialized cells and molecules in the immune system has evolved
to defend against pathogens, but inadvertent immune system attacks on "self" result in …

[HTML][HTML] Overexpression of the cytokine BAFF and autoimmunity risk

…, F Busonero, A Maschio, R Cusano… - … England Journal of …, 2017 - Mass Medical Soc
Background Genomewide association studies of autoimmune diseases have mapped hundreds
of susceptibility regions in the genome. However, only for a few association signals has …

Identification of a SUFU germline mutation in a family with Gorlin syndrome

…, S Nasti, L Battistuzzi, R Cusano… - American journal of …, 2009 - Wiley Online Library
Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high‐penetrance
and is characterized by a range of developmental anomalies and increased risk of developing …

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

…, D Sanna, A Useli, MF Urru, M Marcelli, R Cusano… - Science, 2013 - science.org
Genetic variation within the male-specific portion of the Y chromosome (MSY) can clarify the
origins of contemporary populations, but previous studies were hampered by partial genetic …

Gut microbiota and metabolome alterations associated with Parkinson's disease

S Vascellari, V Palmas, M Melis, S Pisanu, R Cusano… - Msystems, 2020 - Am Soc Microbiol
… The r values are represented by gradient colors, where red and green cells indicate positive
… UniFrac and Bray-Curtis distances were calculated using Adonis in vegan R package (59). …

[HTML][HTML] Impact of a moderately hypocaloric Mediterranean diet on the gut microbiota composition of Italian obese patients

…, V Palmas, V Madau, E Casula, A Deledda, R Cusano… - Nutrients, 2020 - mdpi.com
Although it is known that the gut microbiota (GM) can be modulated by diet, the efficacy of
specific dietary interventions in determining its composition and diversity in obese patients …

Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR

G Patrone, F Puppo, R Cusano, M Scaranari… - …, 2000 - Future Science
In this report, we present a fluorescencebased approach to the assessment of cellular gene
expression and transcription rates. Nuclear run-on was performed by supplying biotin-16-…