Results 51 to 60 of about 18,499 (269)
Uniparental Disomy and Imprinting Disorders [PDF]
OBM Genetics, 2018 Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosaic UPD.
Eggermann, Thomas +2 more
openaire +2 more sources
CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review
Cells, 2020 Imprinting diseases (IDs) are rare congenital disorders caused by aberrant dosages of imprinted genes. Rare IDs are comprised by a group of several distinct disorders that share a great deal of homology in terms of genetic etiologies and symptoms ...
Linn Amanda Syding +3 more
doaj +1 more source
Alteration of Genomic Imprinting after Assisted Reproductive Technologies and Long-Term Health
Life, 2021 Assisted reproductive technologies (ART) are the treatment of choice for some infertile couples and even though these procedures are generally considered safe, children conceived by ART have shown higher reported risks of some perinatal and postnatal ...
Eguzkine Ochoa
doaj +1 more source
Translational control of auditory imprinting and structural plasticity by eIF2α
eLife, 2016 The formation of imprinted memories during a critical period is crucial for vital behaviors, including filial attachment. Yet, little is known about the underlying molecular mechanisms.
Gervasio Batista +4 more
doaj +1 more source
Frontiers in Pediatrics, 2020 Kagami–Ogata syndrome (KOS) is a rare imprinting disorder characterized by skeletal abnormalities, dysmorphic facial features, growth retardation and developmental delay.
Xiaoxue Wang +8 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Chirality and Organization of Adsorbates Modify Surface Phonon Dynamics
Advanced Functional Materials, EarlyView.Chirality and molecular organization are shown to influence surface phonon dynamics in gold films. Time‐resolved Joule heating measurements reveal that ordered homochiral monolayers increase the Debye temperature and disordered layers reduce it, while ordered racemic controls have no effect.
Meital Ozeri +6 more
wiley +1 more source
Advanced Functional Materials, EarlyView.Significant nanoscale oxygen diffusion coefficient variations are measured in ferroelectric hafnium zirconium oxide films with grain boundaries and electrode interfaces exhibiting values 104 times larger than the grain cores. Overall coefficients are 10X larger for films prepared with metal nitride electrodes compared to refractory metals. New insights
Liron Shvilberg +6 more
wiley +1 more source
Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care [PDF]
, 2015 Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of ...
Irène Netchine +22 more
core +2 more sources
Frontiers in Cell and Developmental Biology, 2023 PEG10 and PEG11/RTL1 are paternally expressed, imprinted genes that play essential roles in the current eutherian developmental system and are therefore associated with developmental abnormalities caused by aberrant genomic imprinting.
Hirosuke Shiura +3 more
doaj +1 more source