Results 191 to 200 of about 7,071,839 (288)

Genetics‐Informed Pharmacological Intervention in Gestational Diabetes Mellitus: Current Therapeutic Alignment, Emerging Targets and a Translational Roadmap

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Gestational diabetes mellitus (GDM) complicates roughly one in seven pregnancies and predicts later maternal type 2 diabetes mellitus (T2DM). Yet its pharmacological management still rests on a handful of agents (insulin, metformin and glibenclamide), none of them selected on the basis of the disease's molecular genetics.
Wael Osman
wiley   +1 more source

Polygenic Risk Scores for Islet Autoantibody Positive Early‐Stage Type 1 Diabetes Pre‐Screening

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To develop a sex‐aligned polygenic risk score (PRS) for early‐stage type 1 diabetes (T1D) in children without a first‐degree family history of T1D. Materials and Methods Global Single Nucleotide Polymorphism (SNP) Array was performed in 16 335 individuals without a first‐degree family history of T1D, including 13 956 newborns from the ...
Jose Zapardiel‐Gonzalo, Christiane Winkler, Florian Haupt, Manja Jolink, Alexandra Käßl, Konstantinos Hatzikotoulas, Anette‐G. Ziegler, Ezio Bonifacio   +7 more
wiley   +1 more source

Multi-Trait GWAS Analyses of Blood Pressure Traits Provide Limited Gains in Locus Discovery or Polygenic Risk Score Performance Compared to Single-Trait GWAS. [PDF]

Genet Epidemiol
Ma Y, Argoty-Pantoja AD, Xie T, Barnes MR, Munroe PB, Cabrera CP, Snieder H, Warren HR, UMCG Genetics Lifelines Initiative (UGLI) group author: LifeLines Cohort Study.   +8 more
europepmc   +1 more source

Neoplasm Polygenic Risk Score [PDF]

, 2020
openaire   +1 more source

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Stratification by a polygenic risk score of common variation aids in Alzheimer's disease rare variant discovery. [PDF]

Alzheimers Dement
Olayinka O, Farrell JJ, Zhu C, Khurshid Z, Alzheimer's Disease Sequencing Project, Martin ER, Bush WS, Pericak-Vance MA, Wang LS, Schellenberg GD, Haines JL, Lunetta KL, Zhang X, Farrer LA.   +13 more
europepmc   +1 more source

Energetic dysregulations in psychotic disorders: Targets for new therapeutics

The FEBS Journal, EarlyView.
The present review synthesizes literature documenting aberrant energy production and use, specifically related to mitochondrial and redox dysregulation, in psychotic disorders. Findings from different levels of investigation—genetic, cellular, and in vivo imaging—converge on aberrant energy metabolism as a hallmark of psychotic disorders.
Jacey Anderson, Kai‐Christian Sonntag, Thao Do Vy Le, Kaitlin Shannon, Chao Wang, Fei Du, Xi Chen, Donna McPhie, Dost Ongur, Bruce Cohen, Virginie‐Anne Chouinard   +10 more
wiley   +1 more source

Ancestry specific polygenic risk score, dietary patterns, physical activity and incident type 2 diabetes. [PDF]

Hum Genomics
Hardy DS, Garvin JT, Leak-Johnson TS, Mersha TB.   +3 more
europepmc   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source