Using multi‐omic characterization, we aimed to identify key regulators specific to squamous cell lung carcinoma (SqCC). SqCC‐specific differentially expressed genes were integrated with metabolics data. High expression of the creatine transporter SLC6A8, along with elevated creatine levels, appeared to be a distinct metabolic feature of SqCC.
Johan Staaf+10 more
wiley +1 more source
A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective. [PDF]
Costa C+4 more
europepmc +1 more source
Medical Genetics, Genomics and Bioinformatics Aid in Understanding Molecular Mechanisms of Human Diseases. [PDF]
Orlov YL+3 more
europepmc +1 more source
Medical genetics: advances in brief: Couple screening for cystic fibrosis
William Reardon
openalex +1 more source
Medical genetics: advances in brief: Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder [PDF]
David Fitzpatrick
openalex +1 more source
Inhibition of CDK9 enhances AML cell death induced by combined venetoclax and azacitidine
The CDK9 inhibitor AZD4573 downregulates c‐MYC and MCL‐1 to induce death of cytarabine (AraC)‐resistant AML cells. This enhances VEN + AZA‐induced cell death significantly more than any combination of two of the three drugs in AraC‐resistant AML cells.
Shuangshuang Wu+18 more
wiley +1 more source
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance. [PDF]
Cusmano-Ozog K+4 more
europepmc +1 more source
Trainee perspectives of COVID-19 impact on medical genetics education. [PDF]
Pritchard AB+3 more
europepmc +1 more source
Medical genetics: advances in brief: ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes [PDF]
Nalin Thakker
openalex +1 more source