Roberta Russo
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View article: Activation of pyruvate kinase by mitapivat potentially rescues ineffective erythropoiesis in models of diamond blackfan anemia.
Activation of pyruvate kinase by mitapivat potentially rescues ineffective erythropoiesis in models of diamond blackfan anemia. Open
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome, characterized by decreased red blood cell (RBC) production, congenital malformations and an increased susceptibility to cancer. It is predominantly caused by …
View article: COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet
COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Open
Background Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID- 19. The ERN-EuroBloodNet's registry provided real-time r…
View article: Molecular analysis of T-cell Acute Lymphoblastic Leukemia arising after Essential Thrombocythemia foreshadows a distinct clonal route for lymphoid blast crisis in Philadelphia-negative chronic myeloproliferative neoplasm: a case report with literary review
Molecular analysis of T-cell Acute Lymphoblastic Leukemia arising after Essential Thrombocythemia foreshadows a distinct clonal route for lymphoid blast crisis in Philadelphia-negative chronic myeloproliferative neoplasm: a case report with literary review Open
progression to acute myeloid leukemia is a well-known complication of classical philadelphia-negative chronic myeloproliferative neoplasms, but less frequently disease progression to Acute Lymphoblastic Leukemia has been documented too. A …
View article: Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation
Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation Open
β-thalassemia (β-thal) is a worldwide hereditary red cell disorder characterized by severe chronic anemia. Recently, the pyruvate kinase (PK) activator mitapivat has been shown to improve anemia and ineffective erythropoiesis in a mouse mo…
View article: Myoclonic reflex and non‐reflex seizures in a female child with Coffin–Lowry syndrome: Clinical vignette
Myoclonic reflex and non‐reflex seizures in a female child with Coffin–Lowry syndrome: Clinical vignette Open
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View article: P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model
P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model Open
Mutations in the SLC25A38 gene are responsible for the second most common form of congenital sideroblastic anemia (CSA), a severe condition for which no effective treatment exists. We developed and characterized a K562 erythroleukemia cell…
View article: RAS signaling pathway is essential in regulating <scp>PIEZO1</scp> ‐mediated hepatic iron overload in dehydrated hereditary stomatocytosis
RAS signaling pathway is essential in regulating <span>PIEZO1</span> ‐mediated hepatic iron overload in dehydrated hereditary stomatocytosis Open
PIEZO1 encodes a mechanoreceptor, a cation channel activated by mechanical stimuli. Gain‐of‐function (GoF) variants in PIEZO1 cause dehydrated hereditary stomatocytosis (DHS), or xerocytosis, a pleiotropic syndrome characterized by anemia …
View article: Evaluating the Clinical Impact of Hemoglobinopathy and Hereditary Red Blood Cell Disorder Co-Inheritance in a Cohort of 315 Patients
Evaluating the Clinical Impact of Hemoglobinopathy and Hereditary Red Blood Cell Disorder Co-Inheritance in a Cohort of 315 Patients Open
Background. Hereditary Red Blood Cell Disorders (HRBCDs) are a group of rare conditions characterized by wide phenotypic and genetic variability. These disorders often follow complex inheritance patterns, with up to 15% of HRBCD cases show…
View article: Genotype–Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation
Genotype–Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation Open
Defects of the GNAS gene have been mainly associated with pseudohypoparathyroidism Ia. To date, pathogenic missense, frameshift, non-sense and splicing variants have been described in all the 13 exons of the GNAS gene. Of them, a specific …
View article: A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity
A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity Open
Background: The STAG1 gene encodes a component of the cohesin complex, involved in chromosome segregation and DNA repair. Variants in genes of the cohesin complex determine clinical conditions characterized by facial dysmorphisms, upper li…
View article: COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet
COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Open
Background Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID-19. The ERN-EuroBloodNet's registry provided real-time re…
View article: Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia Open
Iron is an essential nutrient and a constituent of ferroproteins and enzymes crucial for human life. Generally, nonmenstruating individuals preserve iron very efficiently, losing less than 0.1% of their body iron content each day, an amoun…
View article: Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias Open
Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are rare disorders disrupting normal erythroid lineage development, resulting in ineffective erythropoiesis and monolinear cytopenia. CDAs include three …
View article: Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients Open
Congenital Dyserythropoietic Anemia type I (CDA I) is a rare hereditary condition characterized by macrocytic/normocytic anemia, splenomegaly, iron overload, and distinct abnormalities during late erythropoiesis, particularly internuclear …
View article: First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review Open
Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in …
View article: Unraveling the Role of PIEZO1 in Stressed Erythropoiesis: Implications for Dyserythropoiesis and Potential Therapeutic Targets in Dehydrated Hereditary Stomatocytosis
Unraveling the Role of PIEZO1 in Stressed Erythropoiesis: Implications for Dyserythropoiesis and Potential Therapeutic Targets in Dehydrated Hereditary Stomatocytosis Open
PIEZO1 is a mechanosensitive cation channel that plays a crucial role in various physiological processes as a mechanical force sensor. In erythrocytes, it is responsible for regulating cellular volume and hydration. Gain-of-function (GoF) …
View article: Mitapivat Treatment Increases β-Thalassemic Erythroblasts Energy Production and Responsiveness to Oxidative Stress
Mitapivat Treatment Increases β-Thalassemic Erythroblasts Energy Production and Responsiveness to Oxidative Stress Open
β thalassemia (β thal) is a worldwide red blood cell (RBC) genetic disorder with limited therapeutic tools. Standard of care includes chronic RBC transfusions and iron chelation. In β thal, pathophysiologic studies have shown that oxidatio…
View article: Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis
Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis Open
Hereditary spherocytosis (HS) is the most common, nonimmune, hereditary, chronic hemolytic anemia after hemoglobinopathies. The genetic defects in membrane function causing HS lead to perturbation of the RBC metabolome, with altered glycol…
View article: P1458: MITAPIVAT AMELIORATES IN VITRO HUMAN Β THALASSEMIC ERYTHROID MATURATION INDEX AND MODULATES THE EXPRESSION OF THE CYTOPROTECTOR PEROXIREDOXIN-2.
P1458: MITAPIVAT AMELIORATES IN VITRO HUMAN Β THALASSEMIC ERYTHROID MATURATION INDEX AND MODULATES THE EXPRESSION OF THE CYTOPROTECTOR PEROXIREDOXIN-2. Open
Topic: 27. Thalassemias Background: b thalassemia (b thal) is a worldwide hereditary red blood cell (RBC) disorder with limited therapeutic tools except for standard treatment with chronic RBC transfusions and iron chelation. In b thal, pa…
View article: P1470: IDENTIFICATION OF THE PRO20THR NOVEL VARIANT IN CDIN1 GENE ALLOWED EXPLORING THE BIOLOGICAL PROCESSES IMPAIRED IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I
P1470: IDENTIFICATION OF THE PRO20THR NOVEL VARIANT IN CDIN1 GENE ALLOWED EXPLORING THE BIOLOGICAL PROCESSES IMPAIRED IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Open
Topic: 28. Enzymopathies, membranopathies and other anemias Background: Congenital dyserythropoietic anemia type I (CDAI) is a rare anemia characterized by ineffective erythropoiesis. It is due to biallelic mutations either in CDAN1 or in …
View article: P1468: PIEZO1 GAIN-OF-FUNCTION VARIANTS ACCOUNT FOR STRESSED ERYTHROPOIESIS BY ALTERING APOPTOSIS, HYPOXIA CELL RESPONSE, AND GLYCOLYSIS
P1468: PIEZO1 GAIN-OF-FUNCTION VARIANTS ACCOUNT FOR STRESSED ERYTHROPOIESIS BY ALTERING APOPTOSIS, HYPOXIA CELL RESPONSE, AND GLYCOLYSIS Open
Topic: 28. Enzymopathies, membranopathies and other anemias Background: PIEZO1 is a mechanosensitive cation channel involved in various physiological processes as a sensor of mechanical forces. In erythrocytes, it is involved in the regula…
View article: P1472: COINHERITANCE OF PIEZO1 VARIANTS AND MULTI-LOCUS RED BLOOD CELL DEFECTS ACCOUNT FOR THE SYMPTOMATIC PHENOTYPE IN BETA-THALASSEMIA CARRIERS.
P1472: COINHERITANCE OF PIEZO1 VARIANTS AND MULTI-LOCUS RED BLOOD CELL DEFECTS ACCOUNT FOR THE SYMPTOMATIC PHENOTYPE IN BETA-THALASSEMIA CARRIERS. Open
Topic: 28. Enzymopathies, membranopathies and other anemias Background: Approximately 1-5% of the global population is a carrier of a thalassemia mutation. Carriers of β-thalassemia, also defined as beta thalassemia trait (BT), are general…
View article: A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice Open
Background Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vi…
View article: Resources and tools for rare disease variant interpretation
Resources and tools for rare disease variant interpretation Open
Collectively, rare genetic disorders affect a substantial portion of the world’s population. In most cases, those affected face difficulties in receiving a clinical diagnosis and genetic characterization. The understanding of the molecular…
View article: One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the <i>EPAS1</i> gene
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the <i>EPAS1</i> gene Open
Not available.
View article: Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers
Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers Open
Workflow of the study with some examples of the achieved results.