Results 21 to 30 of about 1,210,893 (313)
Nature Communications, 2021 PU.1 is a master regulator of myeloid development but its role in disease-relevant neutrophils is not well known. Here, the authors look at primary neutrophils from a human population and find that genetic variants affecting binding of PU.1 are ...
Stephen Watt +26 more
doaj +1 more source
Genetic variants associated with Hermansky-Pudlak syndrome
Platelets, 2020 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Melissa A. Merideth +5 more
doaj +1 more source
Expressing the human genome [PDF]
Nature, 2001 We have searched the human genome for genes encoding new proteins that may be involved in three nuclear gene expression processes: transcription, pre-messenger RNA splicing and polyadenylation. A plethora of potential new factors are implicated by sequence in nuclear gene expression, revealing a substantial but selective increase in complexity compared
TUPLER, Rossella +2 more
openaire +2 more sources
Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates
BMC Evolutionary Biology, 2020 Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families.
R. Alan Harris +3 more
doaj +1 more source
BMC Genomics, 2021 Background CRISPR-Cas9 genome-wide screens are being increasingly performed, allowing systematic explorations of cancer dependencies at unprecedented accuracy and scale.
Alessandro Vinceti +6 more
doaj +1 more source
Pan-cancer analysis of mRNA stability for decoding tumour post-transcriptional programs
Communications Biology, 2022 The role of mRNA stability in shaping the cancer transcriptome is revealed using a statistical analysis of transcriptomic data.
Gabrielle Perron +8 more
doaj +1 more source
Molecular Cytogenetics, 2018 Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.
A. M. Mohamed +9 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo +7 more
doaj +1 more source
Mapping the evolution of mitochondrial complex I through structural variation
FEBS Letters, EarlyView.Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin +2 more
wiley +1 more source
Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target
FEBS Letters, EarlyView.This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz +5 more
wiley +1 more source