Results 201 to 210 of about 1,650,847 (244)

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

Maternal parity modifies the association of birthweight polygenic score with fetal growth. [PDF]

Sci Rep
Wijesiriwardhana P, Habtewold TD, Wang G, Gleason JL, Wapner RJ, Grantz KL, Tekola-Ayele F.   +6 more
europepmc   +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

The Spanish Polygenic Score reference distribution: a resource for personalized medicine. [PDF]

Eur J Hum Genet
Carmona R, Roldán G, Fernández-Rueda JL, Navarro A, Peña-Chilet M, CSVS Crowdsourcing Group, Dopazo J, López-López D.   +7 more
europepmc   +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

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

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

PGSFusion streamlines polygenic score construction and epidemiological applications in biobank-scale cohorts. [PDF]

Genome Med
Yang S, Ye X, Ji X, Li Z, Tian M, Huang P, Cao C.   +6 more
europepmc   +1 more source

The association between parental migraine, infantile colic, and later migraine in childhood: A scoping review of current evidence

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Background Evidence suggests that infantile colic, a common condition in early infancy, shares pathophysiological features with migraine. Objective Aim was to examine the current evidence on the association between infantile colic and migraine, focusing on both maternal migraine as a risk factor for infantile colic and infantile colic as a ...
Bella Poutanen, Ilari Kuitunen
wiley   +1 more source

HIV‐associated nephropathy: A decade of clinical outcomes, global disparities and emerging promise

HIV Medicine, EarlyView.
Abstract Objective To review the pathogenesis, epidemiology, clinical presentation, management and outcomes of HIV‐associated nephropathy (HIVAN), with emphasis on global disparities, genetic susceptibility (APOL1) and emerging therapeutic and technological advances.
Deepak V. Pathiyil, Nicola Wearne, Brendon Price, Frank Post, Dami A. Collier   +4 more
wiley   +1 more source