Results 61 to 70 of about 1,902 (167)
Determination of HER2 amplification status on tumour DNA by digital PCR.
PLoS ONE, 2013 Determination of the presence of HER2 amplification by quantitative PCR has been challenging, in part due to chromosomal instability and identification of a robust a reference region.
Isaac Garcia-Murillas +2 more
doaj +1 more source
Acta Orthopaedica et Traumatologica Turcica, 2016 Background: The aim of this study was to explore crucial markers and uncover the regulatory mechanisms of fracture healing in the early stage. Methods: Gene expression profile of GSE45156 was downloaded, in which 3 fractured samples and 3 unfractured ...
Chengxue Wang +3 more
doaj +1 more source
The TRPM7 interactome defines a cytoskeletal complex linked to neuroblastoma progression [PDF]
, 2016 Neuroblastoma is the second-most common solid tumor in children and originates from poorly differentiated neural crest-derived progenitors. Although most advanced stage metastatic neuroblastoma patients initially respond to treatment, a therapy resistant
Clark, K +7 more
core +2 more sources
Expanding the etiology of oculo-auriculo-vertebral spectrum: a novel interstitial microdeletion at 1p36 [PDF]
, 2022 The etiology of oculo-auriculo-vertebral spectrum (OAVS) is not well established. About half of patients show a positive family history. The etiology of familiar cases is unclear but appears genetically heterogeneous.
García-Castro, Mónica +3 more
core +1 more source
Evaluation of RNA Blood Biomarkers in the Parkinson’s Disease Biomarkers Program
Frontiers in Aging Neuroscience, 2018 There is a high misdiagnosis rate between Parkinson’s disease (PD) and atypical parkinsonian disorders (APD), such as progressive supranuclear palsy (PSP), the second most common parkinsonian syndrome. In our earlier studies, we identified and replicated
Jose A. Santiago +2 more
doaj +1 more source
Friend of Prmt1, FOP is a novel component of the nuclear SMN complex isolated using biotin affinity purification [PDF]
, 2014 SMN (survival motor neuron protein) complexes are essential for the biogenesis of uridine-rich small nuclear ribonucleoproteins (UsnRNPs). During the biogenesis, the SMN complexes bound to UsnRNPs are transported from the cytoplasm to the nucleus, and ...
Ishikawa, H. (Hiroki) +11 more
core +2 more sources
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy [PDF]
, 2021 Perinatal mortality is a heavy burden for both affected parents and physicians. However, the underlying genetic causes have not been sufficiently investigated and most cases remain without diagnosis. This impedes appropriate counseling or therapy.
Abou Jamra, Rami +8 more
core +1 more source
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. [PDF]
, 2016 Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants.
Greene, Daniel +3 more
core +3 more sources
BMC Cancer, 2021 Background RNA-binding proteins (RBPs) play crucial and multifaceted roles in post-transcriptional regulation. While RBPs dysregulation is involved in tumorigenesis and progression, little is known about the role of RBPs in bladder cancer (BLCA ...
Fengxia Chen +2 more
doaj +1 more source
Birth Defects Research, Volume 118, Issue 3, March 2026.ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam +3 more
wiley +1 more source