Results 171 to 180 of about 68,587 (225)

SCW: building the whole-genome 3D structures based on extremely sparse single-cell Hi-C data. [PDF]

BMC Bioinformatics
Zhu H, Liu T, Shrestha B, Wang Z.
europepmc   +1 more source

PharmVar GeneFocus: CYP1A2—Clinical Impact, Genetic Variation, and Updated Nomenclature

Clinical Pharmacology &Therapeutics, EarlyView.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP1A2 gene. CYP1A2 plays a crucial role in the biotransformation of several commonly used drugs, including antipsychotics, antidepressants, anxiolytics, and methylxanthines.
Katalin Monostory, Gonzalo Villapalos Garcia, Dora Koller, Solomon Adams, Chad A. Bousman, Evangelia Eirini Tsermpini, Michelle Whirl‐Carrillo, Amy J. Turner, Volker M. Lauschke, Mohamed Nagy, Erin C. Boone, Teri E. Klein, Pablo Zubiaur, Andrea Gaedigk   +13 more
wiley   +1 more source

Characterization of neocentromeric marker chromosome derived from chromosome 11: a rare entity in four patients with acute leukemia. [PDF]

Chromosome Res
Mendlikova I, Brezinova J, Svobodova K, Pavlistova L, Valerianova M, Valka J, Stastna MM, Jonasova A, Zemanova Z, Ransdorfova S.   +9 more
europepmc   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Haplotype-resolved reconstruction and functional interrogation of cancer karyotypes. [PDF]

Cell Syst
Brunette GJ, Tourdot RW, Wang J, Wangsa D, Pellman D, Zhang CZ.   +5 more
europepmc   +1 more source

Biomarkers of lung congestion and injury in acute heart failure

ESC Heart Failure, Volume 12, Issue 2, Page 781-789, April 2025.
Abstract Acute heart failure (AHF) classification and management are primarily based on lung congestion and/or hypoperfusion. The quantification of the vascular and tissue lung damage is not standard practice though biomarkers of lung injury may play a relevant role in this context.
Marco Guazzi, Gabriele Novello, Francesca Bursi, Anna Caretti, Noemi Furlotti, Ross Arena, Paola Argiento, Julio Núñez, Antoni Bayes‐Genis, Marco Metra   +9 more
wiley   +1 more source

DeepECC: a deep learning framework for genome-wide identification and analysis of human cancer eccDNAs. [PDF]

Nucleic Acids Res
Wang C, Xu Y, Li R, Qiang M, Guo C, He Q, Wu X, Hou L, Xu Q, Xu Y.   +9 more
europepmc   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Assembling unmapped reads reveals hidden variation in South Asian genomes. [PDF]

Nat Commun
Das A, Biddanda A, McCoy RC, Schatz MC.
europepmc   +1 more source