Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. [PDF]
Boeykens F+19 more
europepmc +1 more source
Medical genetics: advances in brief: Deletions within chromosome 22q11 in familial congenital heart disease [PDF]
William Reardon
openalex +1 more source
Raphin‐1 reduces the survival of PED‐DHGG cells and enhances their radiation sensitivity through both PeIF2α‐dependent and PeIF2α‐independent mechanisms. Raphin‐1 sustains elevated levels of PeIF2α, contributing to its PeIF2α‐dependent effects. Additionally, raphin‐1 interacts with CReP to mediate a separate radiosensitizing pathway that operates ...
Karin Eytan+4 more
wiley +1 more source
Plasma microRNAs in human left ventricular reverse remodelling
Rehan Rajan, Patel Sanjay
doaj +1 more source
Medical genetics: advances in brief: Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase [PDF]
J. C K Barber
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Inhibition of protein SUMOylation has been shown to block tumorigenesis; however, the specific mechanisms by which SUMOylation controls the tumor‐initiating capacities remain elusive. Li et al. describe the role of Etv1 SUMOylation in cancer stem cells using mouse models of mammary gland tumorigenesis.
Veronika Yevdokimova, Yannick D. Benoit
wiley +1 more source
Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel [PDF]
Nalin Thakker
openalex +1 more source
In prostate carcinoma, lactic acid, secreted by highly glycolytic cancer‐associated fibroblasts, is imported into tumor cells through the MCT1 transporter and prevents RSL3 and erastin‐induced ferroptosis (A). Targeting of carbonic anhydrase IX/XII, the main extracellular pH regulators, in tumor and stromal cells reduces microenvironmental acidosis and
Elisa Pardella+18 more
wiley +1 more source
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]
Lander JM+4 more
europepmc +1 more source