Results 111 to 120 of about 13,351 (224)
Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli +13 more
wiley +1 more source
Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022 Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi +7 more
wiley +1 more source
International Journal of Cancer, Volume 152, Issue 5, Page 921-931, 1 March 2023., 2023 What's new? Despite the recent approval of novel therapeutics for germline BRCA1/2‐mutated metastatic breast cancer, data regarding outcomes and optimal treatment strategies are lacking. This study assessed the impact of germline BRCA mutations on metastatic breast cancer survival using data from a cohort of patients treated in an era predating PARP ...
Audrey Mailliez +21 more
wiley +1 more source
De novo inference of diversity genes and analysis of non-canonical V(DD)J recombination in immunoglobulins [PDF]
arXiv, 2019 The V(D)J recombination forms the immunoglobulin genes by joining the variable (V), diversity (D), and joining (J) germline genes. Since variations in germline genes have been linked to various diseases, personalized immunogenomics aims at finding alleles of germline genes across various patients.
arxiv
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti +11 more
wiley +1 more source
Systemic circulating microRNA landscape in Lynch syndrome
International Journal of Cancer, Volume 152, Issue 5, Page 932-944, 1 March 2023., 2023 What's new? Systemic circulating microRNA expression patterns (c‐miRnomes) are altered during sporadic carcinogenesis and they have predictive potential in early cancer detection. However, their potential in carriers of inherited pathogenic mismatch‐repair gene variants associated with Lynch syndrome remains understudied.
Tero Sievänen +10 more
wiley +1 more source
Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé +5 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Adult‐onset Still disease (AOSD) is a systemic autoinflammatory disorder (AID) of unknown etiology. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a large cohort with AOSD to investigate the underlying pathology and identify novel targets for potential treatment.
Joanne Topping +20 more
wiley +1 more source