Results 11 to 20 of about 1,251,136 (266)
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
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The Sequence of the Human Genome [PDF]
Clinical Chemistry, 2015 A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of ...
J Craig, Venter +2 more
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Genomics of human longevity [PDF]
Philosophical Transactions of the Royal Society B: Biological Sciences, 2011 In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences on human longevity are expected to be much more complex.
Slagboom, P.E. +13 more
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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
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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
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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
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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
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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
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Mens Sana Monographs, 2009 GENDER ISSUES ARISE IN RELATION TO THE HUMAN GENOME ACROSS A NUMBER OF DIMENSIONS: the level of attention given to the nuclear genome as opposed to the mitochondrial; the level of basic scientific research; decision-making in the clinic related to both reproductive decision-making on the one hand, and diagnostic and predictive testing on the other; and
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The genomics of the human endometrium
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012 The endometrium is a complex tissue that lines the inside of the endometrial cavity. The gene expression of the different endometrial cell types is regulated by ovarian steroids and paracrine-secreted molecules from neighbouring cells. Due to this regulation, the endometrium goes through cyclic modifications which can be divided simply into the ...
Ruiz-Alonso, Maria +2 more
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