Results 81 to 90 of about 1,366 (166)

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

European Journal of Haematology, Volume 116, Issue 5, Page 535-544, May 2026.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson, Yanwei Cai, Ana Gabriela Vasconcelos, Peter Orchard, Paul L. Auer, Guillaume Lettre, Jia Wen, Nora Franceschini, Charles Kooperberg, Wei Sun, Li Hsu, Laura M. Raffield, Alex P. Reiner   +12 more
wiley   +1 more source

Annual Banned‐Substance Review 18th Edition—Analytical Approaches in Human Sports Drug Testing 2024/2025

Drug Testing and Analysis, Volume 18, Issue 4, Page 458-482, April 2026.
New insights into drug metabolism, distribution, elimination, and detection assays for drugs and methods of sports doping published between 2024 and 2025 are critically reviewed and evaluated in context with the Prohibited List 2025 as established by the World Anti‐Doping Agency.
Mario Thevis, Tiia Kuuranne, Hans Geyer
wiley   +1 more source

New Mutation in Erythroid-Specific Delta-Aminolevulinate Synthase as the Cause of X-Linked Sideroblastic Anemia Responsive to Pyridoxine

, 2011
<i>Background/Aims:</i> Congenital sideroblastic anemias (SA) are characterized by the presence of ringed sideroblasts in the bone marrow.
Jana Kucerova, Jaroslav Cermak, Petra Belohlavkova, Vladimir Divoky, Monika Horvathova, Renata Mojzikova   +5 more
core   +1 more source

The use of RNA‐based 5'‐aminolevulinate synthase 2 biomarkers in dried blood spots to detect recombinant human erythropoietin microdoses

, 2022
The hematological module of the Athlete Biological Passport (ABP) is used for indirect detection of blood manipulations; however, the use of this method to detect doping, such as with microdoses of recombinant human erythropoietin (rhEPO), is problematic.
Cox, H.D., Voss, Sven C., Leuenberger, N., Tiia Kuuranne, Townsend, N., Sven C. Voss, Georgakopoulos, Costas, Geoffrey D. Miller, Voss, S.C., Kuuranne, Tiia, Nathan Townsend, Costas Georgakopoulos, Nicolas Leuenberger, Miller, G.D., Loria, Francesco, Eichner, D., Francesco Loria, Kuuranne, T., Rocca, Angela, Loria, F., Miller, Geoffrey D., Holly D. Cox, Cox, Holly D., Rocca, A., Townsend, Nathan, Eichner, Daniel, Leuenberger, Nicolas, Georgakopoulos, C., Angela Rocca, Daniel Eichner   +29 more
core   +1 more source

Evaluating Transcriptomic Biomarkers for rHuEPO Detection: Assessing the Impact of Exercise and Altitude Exposure

Drug Testing and Analysis, Volume 18, Issue 4, Page 581-602, April 2026.
A two‐stage transcriptomic filter comparing rHuEPO, exercise and altitude responses reduced 153 candidate genes to 50 that were unaffected by physiological stimuli. These retained transcripts offer focused biomarker leads to strengthen antidoping detection of rHuEPO.
Daria Obratov, Shaun Sutehall, Longhua Liu, Zhao Zhongying, Yannis Pitsiladis   +4 more
wiley   +1 more source

Association of gender and main comorbidities with expression of lncRNAs and mRNAs in COVID-19 patients

Journal of Genetic Engineering and Biotechnology
Background: SARS-CoV-2 causes mortality in a considerable number of patients with COVID-19. The association of comorbidities and gender with the expression of lncRNAs and mRNAs in COVID-19 patients is not fully understood.
Hassan Abolghasemi, Hamidreza Kheiri, Hamid Sedighian, Elham Behzadi, Reza Kachuei, Mozhgan Kheirandish, Masoud Arabfard, Abbas Ali Imani Fooladi   +7 more
doaj   +1 more source

Os Efeitos da Doxorrubicina na Biossíntese e no Metabolismo do Heme em Cardiomiócitos [PDF]

Arquivos Brasileiros de Cardiologia
Resumo Fundamento A doxorrubicina está associada à cardiotoxicidade e à morbidade cardíaca tardia. O heme está relacionado ao stress oxidativo celular. Entretanto, sua regulação específica em cardiomiócitos sob os efeitos de doxorrubicina ainda não foi
Zuoyan Wang, Junyi Gao, Haobo Teng, Jianjun Peng   +3 more
doaj   +3 more sources

Expanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001–2023)

British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.
Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim, Jae Hee Lee, Talya Wittmann Dayagi, Robert J. Klaassen, Yves D. Pastore, Sharon Abish, MacGregor Steele, Catherine Corriveau‐Bourque, Vicky R. Breakey, Roona Sinha, Soumitra Tole, Lisa Goodyear, Josee Brossard, Stephanie Villeneuve, Bruce Crooks, Meera Rayar, Laura Wheaton, Sara Ogle, Michaela Cada, Hongbing Li, Rinu Mathew, Yigal Dror   +21 more
wiley   +1 more source

ALAS2 gene expression positively correlates with increasing disease severity in IPAH patients.

, 2012
EDS gene expression for 12 IPAH patients for whom hemodynamic measurements were available within four months of the date of blood draw. The clinical parameters of right atrial pressure (RAmean), cardiac index (CI), pulmonary vascular resistance index ...
Kathleen C. Barnes (134420), Chris Cheadle (172121), Roger A. Johns (172157), Tonya N. Watkins (172132), Frederick Wigley (172161), Laura Hummers (12009), Paul M. Hassoun (172164), Jinshui Fan (7494), Sangjucta Barkataki (172139), Alan E. Berger (172123), Yumiko Sugawara (172136), Meher Boorgula (172144), Dmitry N. Grigoryev (172128), Stephen C. Mathai (172125), Michael A. McDevitt (81784), Reda Girgis (172151), Ari L. Zaiman (172148)   +16 more
core   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source