Results 171 to 180 of about 8,739 (269)

Genomic Characterization of Peruvian Creole Goats: Insights into Population Structure and Runs of Homozygosity. [PDF]

Animals (Basel)
Corredor FA, Godoy-Padilla D, Sessarego EA, Temoche-Socola V, Paredes Chocce ME, Escobar Robledo H, Ramírez Antaurco MF, Burgos-Paz W, Ruiz J, Cruz J, Mulim HA, Oliveira HR.   +11 more
europepmc   +1 more source

Variant‐Specific Landscape of Mutual Exclusivity Among BRAF, EGFR, and KRAS Oncogenes Reveals Overlap With Functionally Antagonistic Mutant Pairs

International Journal of Cancer, EarlyView.
Mutual exclusivity and co‐occurrence of oncogenic mutations reflect functional antagonism or dependence and may inform therapeutic strategies. However, most studies overlook variant‐level patterns. In this comprehensive, cross‐cohort analysis of BRAF, KRAS, and EGFR mutation subtypes, the most significant mutual exclusivity pairs overlapped with ...
Freya Vaeyens, Jan‐Patrick Hetzel, Khaldoon Abdullah, Carolien Eggermont, Catharina Olsen, Marco Mernberger, Ken Maes, Jelle Vlaeminck, Rainer Claus, Dries Vanisterbecq, Frederik Hes, Martin Pichler, Philippe Giron, Oleg Timofeev, Maxim Noeparast   +14 more
wiley   +1 more source

DPYD and UGT1A1 Genotype‐Based Dosing for Fluoropyrimidines and Irinotecan Chemotherapy: Variant‐Specific Impact on Treatment Intensity and Toxicity

International Journal of Cancer, EarlyView.
Pre‐treatment DPYD and UGT1A1 genotyping is increasingly used to prevent fluoropyrimidine‐ and irinotecan‐related toxicity, but variant‐specific real‐world effects remain unclear. In an unselected cohort of cancer patients with actionable genotypes, genotype‐driven dosing improved safety while preserving treatment exposure in high‐risk DPYD c.1905+1G>A
Martina Gambron, Elena Peruzzi, Samantha Perfler, Marcella Montico, Riccardo Cecchin, Elena De Mattia, Michele Spina, Camilla Lisanti, Serena Corsetti, Luisa Foltran, Fabio Puglisi, Rossana Roncato, Erika Cecchin   +12 more
wiley   +1 more source

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases. [PDF]

Genet Med Open
Sivakumaran TA, Azab B, Hershman E, Sivakumaran A, Friedman NR, Raz D, Neilson D, Grebe TA.   +7 more
europepmc   +1 more source

EEG findings in SERAC1‐related MEGD(H)EL syndrome

Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley   +1 more source

Metrnβ drives sepsis immunosuppression via macrophage reprogramming: A novel prognostic biomarker and therapeutic target

Interdisciplinary Medicine, EarlyView.
Metrnβ serves as a novel prognostic biomarker for sepsis and that targeted blockade of the Metrnβ‐c‐Kit axis represents a promising therapeutic strategy for sepsis. Abstract Sepsis is a heterogeneous syndrome critically driven by immunosuppression, yet lacking personalized prognostic markers and therapeutic targets. Here, we provide evidence to support
Xiao Li, Ai Chen, Chen Zhang, Meihong Da, Yonghui Liu, Zhi He, Chenyan Yuan, Shuo Ma, Yuming Yao, Dawen Chen, Meiling Zhou, Zhixin Song, Wenjing Lu, Chun‐Kwok Wong, Guoqiu Wu, Xun Gao   +15 more
wiley   +1 more source

Exploring Runs of Homozygosity and Heterozygosity in Sheep Breeds Maintained in Poland. [PDF]

Genes (Basel)
Szmatola T, Ropka-Molik K, Jasielczuk I, Kawęcka A, Gurgul A.   +4 more
europepmc   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

Journal of Clinical Laboratory Analysis, EarlyView.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn, Wibhasiri Srisuwan, Sitthichai Panyasai   +2 more
wiley   +1 more source

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

Journal of Clinical Laboratory Analysis, EarlyView.
This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas, Paloma Ropero, Fernando Ataulfo González, Marta Morado, María Menor, Silvia de la Iglesia, Montserrat López‐Rubio, Eduardo José Salido, Mariola Abío, María Leonor Senent, Valle Recasens, José Manuel Vagace, Cristina Fonte, Jesús María Hernández‐Rivas, José María Raya, Pablo Ríos, Valeria Luciana Peri, Keneth A. Herrera, María Concepción Tenorio, Laura Lo Riso, Juan Tena, María Angustias Molina, Miriam Vara, Isabel Rodríguez, Pilar Ricard, Miguel Gómez, Oana Popa Dusacovschi, Julia María Vidán, Jorge Groiss, Óscar Ferre, Irene Orbe, Rosa María López, Nazaret Ugalde, Manuela Inés Hidalgo, Cristina Hinojosa, Ana Isabel Rodríguez, Esther Herrera, María Josefa Murúzabal, María del Carmen Hernández, Josefa Esperanza Marco, Celina Benavente, Grupo Español de Eritropatología   +41 more
wiley   +1 more source

Characterization of runs of homozygosity in Gyr cattle genome

, 2017
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
openaire   +1 more source