Results 241 to 250 of about 369,753 (339)

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

Rare genetic diseases associated with G-quadruplex-induced replication stress. [PDF]

Commun Biol
Herr LM, Mukhopadhyay S, Anderson OM, Couch TH, Jones CM, Brosh RM, Rossi M.   +6 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Solid-Phase Synthesis of Guanine Derivatives with Four Diversity Elements via AgNO₃‑Mediated Guanidine Formation. [PDF]

ACS Omega
Moon J, Lee J, Lee H, Yoon G, Lee T.
europepmc   +1 more source

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry. Method This was a mixed‐methods study consisting of a systematic literature search, a survey, and a real‐time Delphi procedure to achieve consensus on domains and ...
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

Targeting the Menin–KMT2A Axis in Acute Leukemia: From Epigenetic Dependency to Clinical Translation

European Journal of Haematology, EarlyView.
ABSTRACT Acute leukemias characterized by a shared epigenetic dependency on the menin–KMT2A axis rely on aberrant HOX‐driven transcriptional programs that sustain leukemic self‐renewal and impair differentiation. This dependency is most evident in KMT2A‐rearranged and NPM1‐mutated acute myeloid leukemia (AML), but also extends to other HOX‐dependent ...
Antonella Bruzzese, Ernesto Vigna, Enrica Antonia Martino, Santino Caserta, Francesco Mendicino, Maria Eugenia Alvaro, Caterina Labanca, Eugenio Lucia, Virginia Olivito, Mamdouh Skafi, Nicola Amodio, Fortunato Morabito, Massimo Gentile   +12 more
wiley   +1 more source

Monitoring of haematopoietic stem cell mobilization by targeted DNA methylation analysis for the British Journal of Haematology

British Journal of Haematology, EarlyView.
Wouter H. G. Hubens, Anke Diehlmann, Patrick Wuchter, Wolfgang Wagner   +3 more
wiley   +1 more source

Alteration in oral and non‐oral tissues in ligature‐induced periodontitis mice with the Alzheimer's disease risk factor APOE4

European Journal of Oral Sciences, EarlyView.
Abstract The APOE4 gene, particularly the ε4 allele, is linked to susceptibility to Alzheimer's disease, and periodontitis can cause pathological changes in multiple organs, but combined effects of these conditions and the impact of tumor necrosis factor (TNF)‐α regulation on the combined effects remain unclear.
Ae Ri Kim, Yun‐Jung Yoo, Eun‐Jung Bak   +2 more
wiley   +1 more source

Sequence-specific fluorescence turn-on arises from base pairing-templated tautomerism in the tricyclic cytidine analogue ^DEAtC. [PDF]

RSC Chem Biol
Shalamberidze A, Pearce HR, Cooksy AL, Purse BW.   +3 more
europepmc   +1 more source

A Framework to Investigate the Effects of Observation Error on Neural Network Predictions of Fish Age

Fish and Fisheries, EarlyView.
ABSTRACT Technological innovations for predicting fish age represent a paradigm shift from conventional age estimation methods used in fisheries science. Recently developed secondary methods rely on models trained on conventional age estimates, derived from subjective interpretation of growth patterns and a biological property of the fish to predict ...
Derek W. Chamberlin, Thomas E. Helser, John D. Brogan, Irina M. Benson, Jason Conner, Andrew T. Chin, Christopher M. Gburski, Mary Elizabeth Matta, Julie A. Pearce, Kali R. Stone, Todd T. TenBrink, Morgan B. Arrington   +11 more
wiley   +1 more source