User profiles for R. Cusano
Roberto CusanoBiotecnologo, 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.
The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100),
Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad …
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 …
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are
autosomal dominant macrothrombocytopenias distinguished by different combinations of …
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 …
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
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 …
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 …
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 …
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
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 …
origins of contemporary populations, but previous studies were hampered by partial genetic …
Gut microbiota and metabolome alterations associated with Parkinson's disease
… 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). …
… 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 …
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-…
expression and transcription rates. Nuclear run-on was performed by supplying biotin-16-…