Associated Papers
Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.
Liu Z et al.
Cardiology in the Young, 2026
Pathogenesis of Noonan syndrome is modulated by NOC2L, a novel interactor of LZTR1 leading to impaired p53 signalling.
Chatterjee S et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Structural basis for LZTR1 recognition of RAS GTPases for degradation.
Dharmaiah S et al.
Science (new York, N.y.), 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
Wolf CM et al.
Jacc. Basic to Translational Science, 2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.
Gupta S et al.
Frontiers in Genetics, 2025
Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1.
Wang S et al.
Esc Heart Failure, 2024
Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.
Abe T et al.
Jci Insight, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Identification and Characterization of Novel Small-Molecule Enhancers of the CUL3LZTR1 E3 Ligase KRAS Complex.
Piech S et al.
Acs Chemical Biology, 2024
Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.
Arrabito M et al.
Genes, 2024
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC et al.
Molecular Neurobiology, 2024
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 2024
Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia-a case-control study.
Junk SV et al.
Leukemia, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 2024
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Knauer C et al.
Molecular Therapy. Nucleic Acids, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Hyperdiploid acute lymphoblastic leukemia in children with LZTR1 germline variants.
Zipper L et al.
Hemasphere, 2024
Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature.
Orsolini F et al.
Frontiers in Endocrinology, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality.
Unuma K et al.
Frontiers in Immunology, 2023
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM et al.
Bmc Medical Genomics, 2022
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N et al.
The Application of Clinical Genetics, 2022
Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.
Fornerod M et al.
Blood Cancer Discovery, 2021
LZTR1: A promising adaptor of the CUL3 family.
Zhang H et al.
Oncology Letters, 2021
Structural Model for Recruitment of RIT1 to the LZTR1 E3 Ligase: Evidences from an Integrated Computational Approach.
Paladino A et al.
Journal of Chemical Information and Modeling, 2021
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Bertola DR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J et al.
American Journal of Medical Genetics. Part A, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT et al.
Clinical Genetics, 2019
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M et al.
Human Molecular Genetics, 2019
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I et al.
Human Genetics, 2019
LZTR1: Genotype Expansion in Noonan Syndrome.
Güemes M et al.
Hormone Research in Paediatrics, 2019
LZTR1 is a regulator of RAS ubiquitination and signaling.
Bigenzahn JW et al.
Science (new York, N.y.), 2018