Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation [PDF]
, 2017 The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can expand our understanding of the medical relevance of ...
Abdulwahab, Firdous +15 more
core +1 more source
Deafness gene expression patterns in the mouse cochlea found by microarray analysis.
PLoS ONE, 2014 BackgroundTonotopy is one of the most fundamental principles of auditory function. While gradients in various morphological and physiological characteristics of the cochlea have been reported, little information is available on gradient patterns of gene ...
Hidekane Yoshimura +5 more
doaj +1 more source
Translating whole‐genome doubling into precision medicine in cancer
Molecular Oncology, EarlyView.Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley +1 more source
IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING [PDF]
, 2011 Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
core
Molecular Oncology, EarlyView.This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu +3 more
wiley +1 more source
Genes compared between dominant and subdominant epitope-specific CD8+ T cells. [PDF]
, 2014 Genes compared between dominant and subdominant epitope-specific CD8+ T cells.
Amy Shi Hung (553567) +7 more
core +1 more source
Pathogenic genes of autosomal dominant Charcot⁃Marie⁃Tooth disease in a Chinese pedigree
Chinese Journal of Contemporary Neurology and Neurosurgery, 2010 Objective To analyse the location of pathogenic genes of autosomal dominant Charcot⁃Marie⁃Tooth disease (CMT, peroneal atrophy) in a Chinese pedigree.
Shun⁃chang SUN +4 more
doaj
Pharmacological chromatin remodeling enhances response to estrogen therapy in ER+ breast cancer
Molecular Oncology, EarlyView.Estrogen therapy elicits clinical benefit in ~ 30% of patients with endocrine‐resistant estrogen receptor (ER)‐positive breast cancer. Based on findings that ER transcriptional activation underlies response to estrogen therapy, we tested the effects of epigenetic dysregulation via pharmacological inhibition of histone deacetylases (HDACi).
Anneka L. Johnson Thomas +16 more
wiley +1 more source
Characterization of tomato genes for resistance to Oidium neolycopersici [PDF]
, 2011 Tomato, Solanum lycopersicum, is a host for Oidium neolycopersici, the cause of powdery mildew (PM). Though cultivated tomatoes are susceptible to PM, resistance is reported in wild Solanum species. By screening wild tomato species, nine loci conferring
Seifi Abdolabad, A.R.
core
Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies
EMBO Molecular MedicineSixteen Gα-subunits transduce hundreds of G protein-coupled receptors and control countless cellular activities. Mutations in respective GNA genes underlie developmental, oncological, metabolic, neurological, and other pathologies.
Vladimir L Katanaev, Gonzalo P Solis
doaj +1 more source