Results 121 to 130 of about 5,748,642 (263)
Candidate Single Nucleotide Polymorphism Markers for Arsenic Responsiveness of Protein Targets
Bioinformatics and Biology Insights, 2010 Arsenic is a toxic metalloid that causes skin cancer and binds to cysteine residues—a property that could be used to infer arsenic responsiveness of a target protein.
Barbara E. Graham-Evans +6 more
doaj
, 2018 Kinetics based detection of single nucleotide polymorphism at room temperature with high sensitivity and specificity.
Xianjin Xiao +3 more
core +1 more source
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 more
wiley +1 more source
, 2015 Distribution of single nucleotide polymorphism (SNP) markers in the integrated molecular genetic linkage map.
Lixia Ku (218359) +8 more
core +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Angewandte Chemie, EarlyView.A photoswitchable ligand was used to trigger conformational changes within the thrombin binding aptamer DNA G‐Quadruplex. These reversible ligand driven rearrangements were examined by time‐resolved NMR experiments to gain insight of the dynamic folding landscape of the G‐quadruplex.
Jason Martins +2 more
wiley +2 more sources
, 2019 Single nucleotide polymorphism (SNP) for metal tolerance protein genes in three thousand rice genotypes.
Rupesh Deshmukh (700425) +6 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas +9 more
wiley +1 more source
Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos +11 more
wiley +1 more source
Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri +6 more
wiley +1 more source