Results 61 to 70 of about 13,098 (199)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice +10 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin +2 more
wiley +1 more source
DBC1 is a key positive regulator of enhancer epigenomic writers KMT2D and p300
Nucleic Acids Research, 2022 Abstract Histone modification is a key epigenetic mechanism for regulation of chromatin dynamics and gene expression. Deleted in breast cancer 1 (DBC1) has been shown to act as a negative regulator of epigenetic modifiers and as a co-activator for nuclear receptors and other transcription factors.
Hwa Jin Kim +4 more
openaire +2 more sources
Nature CommunicationsDespite regulating overlapping gene enhancers and pathways, CREBBP and KMT2D mutations recurrently co-occur in germinal center (GC) B cell-derived lymphomas, suggesting potential oncogenic cooperation.
Jie Li +23 more
semanticscholar +1 more source
MOLECULAR-GENETIC ASPECTS OF KABUKI MAKEUP SYNDROME. Review
Медична наука України, 2021 Relevance. Kabuki Makeup Syndrome (KS) is a rare monogenic genetic disease characterized by multiple malformations. The phenotype includes specific facial features, skeletal and dermatoglyphic abnormalities, mental retardation, short stature.
I.V. Lastivka +4 more
doaj +1 more source
Cell Biology and ToxicologyCollagen is a central component of the extracellular matrix (ECM) in tissues, and ECM can promote tumor cell immune evasion. Our research aimed to expound the biological function of the collagen alpha-1(IX) chain (COL9A1) in colorectal cancer (CRC) and ...
Chengxin Song +5 more
semanticscholar +1 more source
iMetaMed, EarlyView.Schematic illustration of the preparation of His@PDA@Needle, a modified acupuncture needle designed for minimally invasive sampling of lymph node‐derived DNA for molecular profiling. ABSTRACT Current clinical liquid biopsy approaches predominantly rely on blood‐derived biomarkers, which are often limited in sensitivity.
Baiping Cui +5 more
wiley +1 more source
Nature Cell Biology, 2022 Epithelial–mesenchymal transition (EMT) programs operate within carcinoma cells, where they generate phenotypes associated with malignant progression.
Yun Zhang +20 more
semanticscholar +1 more source
iMeta, EarlyView.The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li +29 more
wiley +1 more source
Genetic Mutations in Recurrent/Metastatic Papillary Thyroid Carcinoma
The Laryngoscope, EarlyView.We investigated the mutational landscape and prognostic implications of recurrent/metastatic papillary thyroid carcinoma using nationwide C‐CAT data from 348 patients. CDKN2A, KMT2D, and concurrent TERT/BRAF mutations were independently associated with poorer overall survival, highlighting the potential prognostic value of comprehensive genomic ...
Hiromi Nagano +3 more
wiley +1 more source