Results 161 to 170 of about 13,494,204 (297)
FEBS Open Bio, EarlyView.Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata +3 more
wiley +1 more source
A Fast and Sensitive Algorithm for Aligning ESTs to the Human Genome
, 2002 Introduction The Human Genome Project is an international collaboration, designed to investigate the genetic complexity of humans. Initially, the roughly three billion nucleotides of the human genome were elucidated (Celera Genomics , International ...
Jun Ogasawara +2 more
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Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level
Aging and Cancer, EarlyView.This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
National Human Genome Research Institute
The National Human Genome Research Institute (NHGRI) has many accolades to its credit, not the least being their work on sequencing the human genome. They have made substantial contributions to every sector of genomic research since their founding in ...
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, 2001 Foreword / by Walter Schwimmer -- List of contributors -- Introduction / by Jean-Francois Mattei -- What is the human genome? / by Paul Billings and Sophia Koliopoulos -- An ethical code for human genetics / by Juan-Ramon Lacadena -- Predictive ...
Mattei, Jean-Francois, ed.
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Human Genome '92: The Human Genome Project International Conference
Cell Transplantation, 1992 doaj +1 more source
Bioethics methods in the ethical, legal, and social implications of the human genome project literature. [PDF]
Bioethics, 2014 Walker RL, Morrissey C.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source