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Human Molecular Genetics|January 22, 2010
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleKate G R Quinlan, Jane T Seto, Nigel Turner, et al.Nature Genetics|April 4, 2018
Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A bindingGabriella E Martyn, Beeke Wienert, Lu Yang, et al.BMC Cancer|September 3, 2009
Histological evaluation of AMPK signalling in primary breast cancerSirwan M Hadad, Lee Baker, Philip R Quinlan, et al.The Journal of Biological Chemistry|September 13, 2011
The multi-zinc finger protein ZNF217 contacts DNA through a two-finger domainNoelia Nunez, Molly M K Clifton, Alister P W Funnell, et al.Nature Communications|May 15, 2015
Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globinBeeke Wienert, Alister P W Funnell, Laura J Norton, et al.Science Advances|July 3, 2021
ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasoneJane T Seto, Kelly N Roeszler, Lyra R Meehan, et al.Medrxiv : the Preprint Server for Health Sciences|May 1, 2026
Colibactin-associated mutations in the human colon appear to reflect anatomy and early exposure, not oncogenesisLaurel Hiatt, Elizabeth V Peterson, Hannah C Happ, et al.Cell Death & Disease|March 22, 2014
Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaksN T Martin, K Nakamura, U Paila, et al.British Journal of Cancer|January 28, 2010
p53 mutation, deprivation and poor prognosis in primary breast cancerL Baker, P R Quinlan, N Patten, et al.Scientific Reports|June 21, 2020
Germline mutation rates in young adults predict longevity and reproductive lifespanRichard M Cawthon, Huong D Meeks, Thomas A Sasani, et al.Pageof 34