Results 121 to 130 of about 69,317 (259)
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017 BackgroundPrecision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients.
Yee‐Ki Lee +7 more
doaj +1 more source
Translation termination depends on the sequential ribosomal entry of eRF1 and eRF3.
, 2019 Translation termination requires eRF1 and eRF3 for polypeptide-and tRNA-release on stop codons. Additionally, Dbp5/DDX19 and Rli1/ABCE1 are required; however, their function in this process is currently unknown.
Beissel , C. +5 more
core +1 more source
Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model
Integrative Zoology, EarlyView.UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang +5 more
wiley +1 more source
De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy
Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley +1 more source
Cryptorchidism: Novel genetic insights into CCDC149 mutations
Andrology, EarlyView.Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du +8 more
wiley +1 more source
eLife, 2014 Cells can avoid the effects of so-called ‘nonsense’ mutations by several methods, including a newly discovered mechanism driven by microRNA molecules.
Catherine L Jopling
doaj +1 more source
Three phases in the evolution of the standard genetic code: how translation could get started [PDF]
, 2007 A primordial genetic code is proposed, having only four codons assigned, GGC meaning glycine, GAC meaning aspartate/glutamate, GCC meaning alanine-like and GUC meaning valine-like.
van der Gulik, Peter
core +1 more source
Acta Ophthalmologica, EarlyView.Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic +10 more
wiley +1 more source
Journal of the Formosan Medical Association, 2006 Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC). TSC is caused by mutations in the genes TSC1 and TSC2.
Chih-Ping Chen +4 more
doaj +1 more source
Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants
British Journal of Haematology, EarlyView.Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George +13 more
wiley +1 more source