Results 51 to 60 of about 264 (130)
New Treatment Strategy and Future Research Direction for BRAF‐Mutated Cancer
Cancer Science, EarlyView.Treatment with BRAF inhibitor plus MEK inhibitor is currently used in BRAF‐mutated various malignancies except colorectal cancer, and treatments with BRAF and/or MEK inhibitors and anti‐EGFR antibody are used in BRAF‐mutated colorectal cancer. Despite recent advances in BRAF‐targeted therapies, their efficacy is still limited.
Masanobu Takahashi +2 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2019 Background Animal studies suggested that blocking the activation of the mammalian target of rapamycin (mTOR) pathway might be effective to treat cardiac hypertrophy in LEOPARD syndrome (LS) caused by PTPN11 mutations.
Hao Cui +11 more
doaj +1 more source
Leukemia Research Reports, 2022 Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm characterized by sustained monocytosis and mutations in TET2, ASXL1, SRSF2, SETBP1, NRAS, and KRAS. We describe a rare case of CSF3R T618I mutated CMML that has a proliferative phenotype,
Adelaide Kwon +6 more
doaj +1 more source
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11 [PDF]
Journal of Human Genetics, 2004 LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition. The main clinical features include multiple lentigines, cardiovascular defects, and facial anomalies, some of which are shared ...
Kalidas, Kamini +9 more
openaire +3 more sources
Clinical Endocrinology, EarlyView.ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park +15 more
wiley +1 more source
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning [PDF]
European Journal of Human Genetics, 2003 Noonan syndrome (NS, MIM 163950) is an autosomal dominant condition characterised by facial dysmorphy, congenital cardiac defects and short stature. Recently missense mutations in PTPN11, the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2 on 12q24, were identified in 50% of analysed Noonan cases. A large four-generation Belgian family
Els, Schollen +4 more
openaire +2 more sources
Clinical Genetics, EarlyView.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Stem Cell Research, 2019 Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase
Rong Li +10 more
doaj +1 more source
Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling
Cytopathology, EarlyView.Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu +3 more
wiley +1 more source
The Journal of Pathology: Clinical Research, Volume 12, Issue 5, September 2026.Abstract B‐cell precursor acute lymphoblastic leukemia (preB‐ALL) is characterized by pathogenic variants currently used in precision oncology. However, the mutational landscape of Mexican children with preB‐ALL has not yet been thoroughly explored and defined in terms of the clinical significance.
Daniel Martínez Anaya +10 more
wiley +1 more source