Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4206674 | PMC |
| http://dx.doi.org/10.3109/10428194.2014.903476 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genome wide analysis of the sox32 gene in germline maintenance and differentiation in leopard coral grouper (Plectropomus leopardus).
Comp Biochem Physiol Part D Genomics Proteomics
December 2024
MOE Key Laboratory of Marine Genetics and Breeding, College of Marine Life Sciences, Key Laboratory of Tropical Aquatic Germplasm of Hainan Province, Sanya Oceanographic Institution, Ocean University of China, Qingdao, Sanya, China; Southern Marine Science and Engineer Guangdong Laboratory, Guangzhou 511458, China. Electronic address:
The Sox family genes, as a group of transcription factors, are widely expressed in vertebrates and play a critical role in reproduction and development. The present study reported that 26 sox genes were identified from the genome and transcriptome of P. leopardus.
View Article and Find Full Text PDFNew Germline TP53 Variant Detected After Radiotherapy-Induced Angiosarcoma of the Chest Wall in a Previously Treated Breast Cancer Patient: A Case Report and Review of Li-Fraumeni Syndrome and Radiotherapy-Induced Sarcoma.
Case Rep Oncol Med
December 2024
Pathology Department, Oncoclinicas Group, São Paulo, Brazil.
Li-Fraumeni syndrome (LFS) is one of the most common hereditary cancer predisposition syndromes in Brazil. The high frequency of the syndrome is due to a founding variant (R337H) in the country. LFS is characterized by a wide variety of malignant phenotypes.
View Article and Find Full Text PDFClinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFPrognostic importance of direct assignment of parent-of-origin via long-read genome and epigenome sequencing in retinoblastoma.
JCI Insight
December 2024
Department of Ophthalmology and Roger and Karalis Johnson Retina Center, University of Washington, Seattle, United States of America.
Background: Current clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease and the inability to assign this in de novo cases limits prognostication in the majority of affected individuals with retinoblastoma, a hereditary cancer with suspected parent-of-origin effects.
Methods: To directly assign parent-of-origin in retinoblastoma patients, genomic DNA was extracted from blood samples for sequencing using a programmable, targeted single-molecule long-read DNA genomic and epigenomic approach.
FaMMily Affairs: Dissecting inherited contributions to multiple myeloma risk.
Semin Hematol
November 2024
Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:
Etiological links to multiple myeloma (MM) remain poorly understood, though emerging evidence suggests a significant hereditary component. This review integrates current literature on inherited factors contributing to MM risk, synthesizing both epidemiologic and genomic data. We examine familial clustering patterns, assess genome-wide association studies (GWAS) that reveal common genetic variants linked to MM, and explore rare, high-penetrance variants in key susceptibility genes.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!