Marco Tartaglia
YOU?
Author Swipe
View article: Solid Tumors in RASopathies: Insights from a Large Monocentric Cohort and Systematic Review of the Literature
Solid Tumors in RASopathies: Insights from a Large Monocentric Cohort and Systematic Review of the Literature Open
Background. The RAS-MAPK signaling cascade mediates cellular responses to external stimuli, regulating key processes involved in tumorigenesis, including growth, differentiation, and survival. RASopathies are a group of neurodevelopmental …
View article: Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer Open
NF1-associated BC is characterized by earlier onset, aggressive tumor features, and distinct mutational patterns.
View article: Germinal center trajectories and transcriptional signatures define CLL subtypes and their pathway regulators
Germinal center trajectories and transcriptional signatures define CLL subtypes and their pathway regulators Open
Chronic lymphocytic leukemia (CLL) is divided into unmutated (UM-CLL) and mutated (M-CLL) subtypes depending on somatic hypermutation (SHM) frequency in their immunoglobulin heavy chain V (IGHV) region. We previously demonstrated that CD27…
View article: Domain-Specific Phenotypic Profiles in RAF1-Related Noonan Syndrome
Domain-Specific Phenotypic Profiles in RAF1-Related Noonan Syndrome Open
Pathogenic variants in RAF1 are a common cause of Noonan syndrome (NS), accounting for approximately 5% of cases. Nonetheless, RAF1-related NS is often associated with severe clinical features, particularly hypertrophic cardiomyopathy (HCM…
View article: Genotype–phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study
Genotype–phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study Open
Background Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway. While previous research has focused …
View article: The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles Open
Background: Dominantly acting variants in TUBB2B have primarily been associated with cortical dysplasia complex with other brain malformations 7 (CDCBM7), a disorder in which cortical brain abnormalities are typically linked to development…
View article: SAT-196 Noonan Syndrome: Genotype-Phenotype Correlations and Clinical Variability
SAT-196 Noonan Syndrome: Genotype-Phenotype Correlations and Clinical Variability Open
Disclosure: G. Del Medico: None. E. Andreucci: None. S. Bargiacchi: None. G. Gori: None. G. Mancano: None. G. Traficante: None. F. Girolami: None. S. Favilli: None. A. Peron: None. I. Olivotto: None. M. Tartaglia: None. S. Stagi: None. Bac…
View article: P10.15.B CANCER PREDISPOSITION SYNDROMES IN PEDIATRIC PATIENTS WITH HIGH-GRADE GLIOMAS
P10.15.B CANCER PREDISPOSITION SYNDROMES IN PEDIATRIC PATIENTS WITH HIGH-GRADE GLIOMAS Open
BACKGROUND The association between pediatric high-grade gliomas (HGG) and cancer predisposition syndromes (CPS) remains inadequately elucidated in the existing literature, while next-generation sequencing (NGS) is increasingly utilized for…
View article: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Open
Polypyrimidine tract-binding protein 1 (PTBP1) is a heterogeneous nuclear ribonucleoprotein primarily known for its alternative splicing activity. It shuttles between the nucleus and cytoplasm via partially overlapping N-terminal nuclear l…
View article: ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation Open
Adenylosuccinate lyase deficiency (ADSLd) is a rare autosomal recessive purine metabolism disorder with several clinical manifestations. While toxic substrate accumulation is a known hallmark, no additional molecular mechanisms have been e…
View article: Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa Open
A class of retinal dystrophies known as retinitis pigmentosa (RP) is caused by the loss of photoreceptor cells. RP can be genetically transmitted as an autosomal dominant, autosomal recessive, or X-linked trait. About one-third of genes im…
View article: Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model
Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model Open
Introduction Nephropathic cystinosis is a rare genetic disorder characterized by cystine accumulation in lysosomes that causes early renal dysfunction and progressive chronic kidney disease. Although several metabolic pathways, including o…
View article: Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency Open
Background/Objectives: Neurodevelopmental disorders (NDDs) represent a clinically diverse group of conditions that affect brain development, often leading to varying degrees of functional impairment. Many NDDs, particularly syndromic forms…
View article: Missense variants in<i>TUBA4A</i>cause myo-tubulinopathies
Missense variants in<i>TUBA4A</i>cause myo-tubulinopathies Open
Tubulinopathies encompass a wide spectrum of disorders resulting from variants in genes encoding α- and β-tubulins, the key components of microtubules. While previous studies have linked de novo or dominantly inherited TUBA4A missense vari…
View article: Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Open
View article: Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis‐Free <scp>DNA</scp> Methylation Profiling
Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis‐Free <span>DNA</span> Methylation Profiling Open
Hypothesis-free DNA methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighti…
View article: Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma
Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma Open
Basal cell adenoma (BCA) and basal cell adenocarcinoma (BCAC) of the salivary gland are rare tumours that can be difficult to distinguish from each other and other salivary gland tumour subtypes. Using next-generation sequencing, we identi…
View article: Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin
Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin Open
The homozygous Leu100Pro amino acid substitution in SPRED2, a protein negatively controlling RAS function, has recently been identified to be causally linked to a recessive form of Noonan syndrome. The amino acid substitution was documente…
View article: Phenotypic Characterization of Seven Pediatric Patients Diagnosed With <scp><i>KAT6B</i></scp>‐Related Disorders: Case Series and Review of the Literature
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With <span><i>KAT6B</i></span>‐Related Disorders: Case Series and Review of the Literature Open
Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B . In some cases, GPS and SBBYSS features can ove…
View article: EndoCompass project: research roadmap for growth disorders
EndoCompass project: research roadmap for growth disorders Open
Background Endocrine science remains underrepresented in European Union research programs despite the fundamental role of hormone health in human wellbeing. Analysis of the CORDIS database reveals a persistent gap between the societal impa…
View article: Recommendations on the Organization of Care for Bulgarian Patients with RASopathies, Adopted Within the Framework of The RASopathies – Unknown Problems and Future Perspectives International Scientific Meeting
Recommendations on the Organization of Care for Bulgarian Patients with RASopathies, Adopted Within the Framework of The RASopathies – Unknown Problems and Future Perspectives International Scientific Meeting Open
On 1–2 November 2024, scientists and clinicians with different backgrounds, as well as patient advocates, gathered in Varna for The RASopathies – Unknown Problems and Future Perspectives international scientific meeting. The event was dedi…
View article: Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review Open
RASopathies are a diverse group of genetic conditions caused by hyperactivation of the RAS-MAPK signaling pathway, mainly inherited in an autosomal dominant manner. They present with variable features such as short stature, congenital hear…
View article: Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1 Open
O-mannosylation is a post-translational modification required for the proper function of various proteins and critical for development and growth. POMGNT1 encodes the enzyme O-linked-mannose β-1,2-N-acetylglucosaminyltransferase 1, which c…
View article: Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy
Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy Open
Riboflavin transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in SLC52A2 and SLC52A3 genes, encoding the riboflavin (RF) transporters hRFVT2 and hRFVT3. In the present study we fo…
View article: <i>CDK13</i> ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
<i>CDK13</i> ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management Open
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar…
View article: Editorial: Endocrine aspects of Noonan syndrome and related syndromes, volume II
Editorial: Endocrine aspects of Noonan syndrome and related syndromes, volume II Open
View article: The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies Open
Background/Objectives: Heterozygous variants in the heterogeneous nuclear ribonucleoprotein C gene (HNRNPC) have recently been reported to cause intellectual developmental disorder-74 (MRD74), a neurodevelopmental disorder with no recurren…
View article: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Open
View article: Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy
Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy Open
Protocadherin 19 (PCDH19) is an adhesion molecule involved in cell-cell interaction whose mutations cause a drug-resistant form of epilepsy, named PCDH19-Clustering Epilepsy (PCDH19-CE, MIM 300088 ). The mechanism by which altered PCDH19 f…
View article: Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels Open
Updated RASopathy specifications improve the classification of variants associated with recessive disease and observed in exome/genome cases. Most of these specifications may also be used as a baseline for other rare Mendelian disorders.