Results 51 to 60 of about 3,708 (168)

Pharmacogenomics in clinical practice: Biomarker information in Brazilian drug labels

British Journal of Clinical Pharmacology, Volume 92, Issue 1, Page 109-118, January 2026.
This review examines the PGx annotations in package inserts (bulas in Brazilian Portuguese) approved by ANVISA, the Brazilian Health Regulatory Agency, for 19 gene–drug pairs with strong or moderate recommendations for initial dosing alteration in the CPIC (Clinical Pharmacogenetic Implementation Consortion) guidelines and PGx testing required or ...
Guilherme Suarez‐Kurtz
wiley   +1 more source

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

Arquivos de Neuro-Psiquiatria
Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu.
Jerusa Smid, Adalberto Studart Neto, Michele Christine Landemberger, Cleiton Fagundes Machado, Paulo Ribeiro Nóbrega, Nathalie Henriques Silva Canedo, Rodrigo Rizek Schultz, Michel Satya Naslavsky, Sérgio Rosemberg, Fernando Kok, Leila Chimelli, Vilma Regina Martins, Ricardo Nitrini   +12 more
doaj   +1 more source

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Orphanet Journal of Rare Diseases, 2010
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to
Pérez-Menéndez Teresa M, Coto Eliecer, Gil-Peña Helena, Mejia-Gaviria Natalia, Santos Fernando   +4 more
doaj   +1 more source

Genomic Differentiation, Diversity, and Genetic Structuring of Euterpe edulis Mart. Morphotype in Espírito Santo, Brazil

Ecology and Evolution, Volume 16, Issue 1, January 2026.
This study investigates genomic differences among distinct morphotypes of Euterpe edulis in Espírito Santo (ES), Brazil, using a dataset of 5319 high‐quality SNPs. ABSTRACT The genomic knowledge of Euterpe edulis populations with morphological and genetic variations is relevant to species preservation, management, conservation, and improvement.
Jônatas Gomes Santos, Francine Alves Nogueira de Almeida, Hélio de Queiroz Boudet‐Fernandes, Pedro Henrique Dias dos Santos, Miquéias Fernandes, Suelane Costa dos Santos, Adésio Ferreira, Marcia Flores da Silva Ferreira   +7 more
wiley   +1 more source

Mutant p53 affects the mitochondrial proteome, promoting mitochondrial fragmentation and OXPHOS in pancreatic ductal adenocarcinoma cells

The FEBS Journal, Volume 293, Issue 1, Page 156-174, January 2026.
The TP53 tumor suppressor gene is frequently mutated in pancreatic ductal adenocarcinoma (PDAC). We focused on mitochondria and found that mutant p53 promoted MYH14 expression and mitochondrial fragmentation, resulting in higher mitochondrial respiration in PDAC cell lines.
Maria Poles, Raffaella Pacchiana, Chiara Mortali, Barbara Cisterna, Nidula Mullappilly, Adriana Celesia, Federica Danzi, Martina Gaspari, Daniela Cecconi, Massimo Donadelli, Alessandra Fiore   +10 more
wiley   +1 more source

Robert Zeller, MD (1938–2025)

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 108-109, June 2026.
Gary D. Clark, Phillip L. Pearl
wiley   +1 more source

New Mechanisms of Resistance to CAA and OSBPI Fungicides in Phytophthora infestans

Plant Pathology, Volume 75, Issue 1, January/February 2026.
This study presents the first report of the mechanism behind mandipropamid resistance in Phytophthora infestans, the newly discovered presence of combined resistance to CAAs and OXTP in potato fields and recommendations for revised fungicide management strategies for potato late blight control. ABSTRACT Field observations from Denmark in 2021 suggested
Stefano F. F. Torriani, Maya Waldner‐Zulauf, Jürg Wullschleger, Luca Cornetti, Mathias Blum, Marine Blondel, Myriam Van Hecke, Stefan Dragos, Lorenzo Borghi   +8 more
wiley   +1 more source

Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.

PLoS ONE
Long QT Syndrome type 8 (LQT8) is a cardiac arrhythmic disorder associated with Timothy Syndrome, stemming from mutations in the CACNA1C gene, particularly the G406R mutation.
Simone Scacchi, Luca F Pavarino, Andrea Mazzanti, Alessandro Trancuccio, Silvia G Priori, Piero Colli Franzone   +5 more
doaj   +1 more source

A Bayesian framework to identify methylcytosines from high-throughput bisulfite sequencing data.

PLoS Computational Biology, 2014
High-throughput bisulfite sequencing technologies have provided a comprehensive and well-fitted way to investigate DNA methylation at single-base resolution. However, there are substantial bioinformatic challenges to distinguish precisely methylcytosines
Qing Xie, Qi Liu, Fengbiao Mao, Wanshi Cai, Honghu Wu, Mingcong You, Zhen Wang, Bingyu Chen, Zhong Sheng Sun, Jinyu Wu   +9 more
doaj   +1 more source

Missense single nucleotide variants affecting CYP3A catalytic activity are present in Limousine cattle

Italian Journal of Animal Science, 2020
Cytochrome P450 (CYP) 3A is one of the most important subfamily of drug metabolising enzymes. Genetic factors such as breed and allelic variants might modify CYP3A expression and enzyme activity and lead to inter- and intra-individual variability in ...
Marianna Pauletto, Roberta Tolosi, Mauro Dacasto, Mery Giantin   +3 more
doaj   +1 more source