Marta Rusmini
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View article: Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and non-confirmatory genetic testing
Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and non-confirmatory genetic testing Open
View article: Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults Open
Non-remitting neutropenia in children and chronic idiopathic neutropenia (CIN) in adults have been described previously as peculiar subgroups of neutropenic patients carrying similar clinical and immunological features. The present collect…
View article: Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene Open
Serine/arginine-rich splicing factors (SRSFs) are a family of proteins involved in RNA metabolism, including pre-mRNA constitutive and alternative splicing. The role of SRSF proteins in regulating mitochondrial activity has already been sh…
View article: Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant on <em>SRSF4 </em>Gene
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant on <em>SRSF4 </em>Gene Open
Serine/arginine-rich splicing factors (SRSF) are a family of proteins involved in RNA metabolism, including pre-mRNA constitutive and alternative splicing. The role of SRSF proteins on mitochondria activity has already been shown for SRSF6…
View article: Editorial: Elucidation of the causes of human disease by multi-omics integration
Editorial: Elucidation of the causes of human disease by multi-omics integration Open
EDITORIAL article Front. Genet., 09 August 2023Sec. Human and Medical Genomics Volume 14 - 2023 | https://doi.org/10.3389/fgene.2023.1271406
View article: Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?
Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond? Open
Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare, life-threatening, pediatric disorder of unknown etiology, whose diagnosis is made difficult by poor knowledge of clinical ma…
View article: P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE
P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE Open
Topic: 11. Bone marrow failure syndromes incl. PNH - Biology & Translational Research Background: An 8-year-old patient was admitted to the Haematology Unit because of leukopenia, lymphopenia, and neutropenia. Two relatives belonging to th…
View article: P791: WHOLE EXOME SEQUENCING IN ADULT PATIENTS WITH CHRONIC IDIOPATHIC NEUTROPENIA
P791: WHOLE EXOME SEQUENCING IN ADULT PATIENTS WITH CHRONIC IDIOPATHIC NEUTROPENIA Open
Topic: 12. Bone marrow failure syndromes incl. PNH - Clinical Background: Adult patients with persistent, unexplained neutropenia who do not fulfill the diagnostic criteria of any underlying disease are characterized as chronic idiopathic …
View article: Exploration of Tools for the Interpretation of Human Non-Coding Variants
Exploration of Tools for the Interpretation of Human Non-Coding Variants Open
The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection range, revealing the presence of variants even in non-coding regions of the genome, which would have been missed using targeted approaches. One of the mo…
View article: Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report Open
Cartilage-hair hypoplasia (CHH) is a syndromic immunodeficiency characterized by metaphyseal dysplasia, cancer predisposition, and varying degrees of anemia. It may present as severe combined immunodeficiency in infancy, or slowly progress…
View article: Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
The publisher apologizes for publishing an incorrect version of the article. This has been corrected.
View article: How Genetics Might Explain the Unusual Link Between Malaria and COVID-19
How Genetics Might Explain the Unusual Link Between Malaria and COVID-19 Open
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-associated coronavirus disease 2019 (COVID-19) pandemic has been the subject of a large number of studies in recent times. Here, starting from the evidence that in Italy, the are…
View article: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated…
View article: A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease Open
Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogene…
View article: Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers Open
The title of the article has been changed from 'Next generation sequencing panel in undifferentiated autoinflammatory diseases identify patients with colchicine-responder recurrent fevers' to 'Next generation sequencing panel in undifferen…
View article: Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab
Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab Open
We describe the association of mutations of the CARD14 gene with an erythrodermic psoriasis pedigree, underlying the necessity to investigate CARD14 mutations in childhood-onset psoriasis cases and confirming the presence of CARD14 causati…
View article: FRI0568 THE USE OF NEXT GENERATION SEQUENCING PANEL IN UNDIFFERENTIATED AUTOINFLAMMATORY DISEASES IDENTIFY A SEPARATE SUBSET OF COLCHICINE-RESPONDER RECURRENT FEVERS DISTINCT FROM PFAPA SYNDROME
FRI0568 THE USE OF NEXT GENERATION SEQUENCING PANEL IN UNDIFFERENTIATED AUTOINFLAMMATORY DISEASES IDENTIFY A SEPARATE SUBSET OF COLCHICINE-RESPONDER RECURRENT FEVERS DISTINCT FROM PFAPA SYNDROME Open
View article: RET in breast cancer: pathogenic implications and mechanisms of drug resistance
RET in breast cancer: pathogenic implications and mechanisms of drug resistance Open
Initiation, progression, outcome and sensibility to therapies in breast cancer (BC), the most frequent cancer in women, are driven by somatic and germline mutations. Although the effectiveness of hormonal therapies is well-founded, it is p…
View article: CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever Open
Primary immunodeficiencies with selective susceptibility to EBV infection are rare conditions associated with severe lymphoproliferation. We followed a patient, son of consanguineous parents, referred to our center for recurrent periodic e…
View article: Novel spondyloepimetaphyseal dysplasia due to <i>UFSP2</i> gene mutation
Novel spondyloepimetaphyseal dysplasia due to <i>UFSP2</i> gene mutation Open
Beukes hip dysplasia is an autosomal dominant disease which has to date been described only in a large South African family of Dutch origin. The patients presented with progressive epiphyseal dysplasia limited to femoral capital epiphysis …
View article: Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients
Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients Open
FIGURES 27 – 29. Type localities. 27. Simulium adelaideae. Above Lac Vaihiria on crossTahiti road. Larva collected in denselyshaded portion of stream in background. 28. S. sublonckei. Second cascade on road to Maroto River barrage, Vaita…
View article: Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction Open
View article: Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform
Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform Open
Next-generation sequencing (NGS) is a cost-effective technology capable of screening several genes simultaneously; however, its application in a clinical context requires an established workflow to acquire reliable sequencing results. Here…
View article: Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients
Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients Open
View article: Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS)
Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS) Open
View article: A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes
A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes Open
Systemic autoinflammatory diseases (SAIDs) are a group of monogenic disorders characterized by inflammation which occurs in the absence of pathogenic auto-antibodies, autoreactive T lymphocytes or other infective causes. More than 50% of S…
View article: 210 Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients
210 Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients Open