Results 221 to 230 of about 7,162,706 (382)

Observational Study of Tocilizumab in Children With Febrile Infection‐Related Epilepsy Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to assess the efficacy and safety of using tocilizumab in children with febrile infection‐related epilepsy syndrome (FIRES) and explore tocilizumab‐related changes in interleukin (IL)‐6 levels. Methods Patients with FIRES admitted to the Intensive Care Unit (ICU) of Beijing Children's Hospital were retrospectively ...
Yushan He, Jie Wu, Chaonan Fan, Zheng Li, Jun Liu, Kechun Li, Quan Wang, Suyun Qian   +7 more
wiley   +1 more source

Colchicine Concentrations and Relationship With Colchicine Efficacy and Adverse Events: Post Hoc Analysis of a Randomized Clinical Trial of Colchicine for Gout Flare Prophylaxis

Arthritis Care &Research, EarlyView.
Objective Our objective was to examine the relationship between colchicine plasma concentrations and clinical and demographic factors and to determine the relationship between colchicine concentrations and colchicine efficacy and colchicine‐specific adverse events.
Lisa K. Stamp, Anne Horne, Borislav Mihov, Jill Drake, Janine Haslett, Peter Chapman, Daniel F. B. Wright, Christopher Frampton, Nicola Dalbeth   +8 more
wiley   +1 more source

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes. [PDF]

Cell Genom
Huguet G, Renne T, Poulain C, Dubuc A, Kumar K, Kazem S, Engchuan W, Shanta O, Douard E, Proulx C, Jean-Louis M, Saci Z, Mollon J, Schultz LM, Knowles EEM, Cox SR, Porteous D, Davies G, Redmond P, Harris SE, Schumann G, Dumas G, Labbe A, Pausova Z, Paus T, Scherer SW, Sebat J, Almasy L, Glahn DC, Jacquemont S.   +29 more
europepmc   +2 more sources

Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome. [PDF]

Hum Mol Genet, 2023
Xing Z, Li Y, Cortes-Gomez E, Jiang X, Gao S, Pao A, Shan J, Song Y, Perez A, Yu T, Highsmith MR, Boadu F, Conroy JM, Singh PK, Bakin AV, Cheng J, Duan Z, Wang J, Liu S, Tycko B, Yu YE.   +20 more
europepmc   +1 more source

Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency) [PDF]

, 2000
Jun Tohyama
openalex   +1 more source

Whole‐Blood RNA Sequencing Profiling of Patients With Rheumatoid Arthritis Treated With Tofacitinib

ACR Open Rheumatology, EarlyView.
Objective Patients with rheumatoid arthritis (RA) often fail to respond to therapies, including JAK inhibitors (JAKi), and treatment allocation is made via a trial‐and‐error strategy. A comprehensive analysis of responses to JAKi, including tofacitinib, by RNA sequencing (RNAseq) would allow the discovery of transcriptomic markers with a two‐fold ...
Chiara Bellocchi, Ennio Giulio Favalli, Gabriella Maioli, Elena Agape, Marzia Rossato, Matteo Paini, Adriana Severino, Barbara Vigone, Martina Biggioggero, Elena Trombetta, Roberto Caporali, Lorenzo Beretta   +11 more
wiley   +1 more source

Isolation of a rat liver delta-aminolevulinate dehydrase (ALAD) cDNA clone: evidence for unequal ALAD gene dosage among inbred mouse strains.

, 1986
Terry Rogers Bishop, Paul J. Cohen, SH Boyer, Andrea N. Noyes, Laurence P. Frelin   +4 more
openalex   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

Advanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe, Samantha Kaonis, Natalie Calahan, Neda Kabi, Soham Ghosh   +4 more
wiley   +1 more source

X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height. [PDF]

Proc Natl Acad Sci U S A
Berry ASF, Finucane BM, Myers SM, Martin CL, Ledbetter DH, Willard HF, Oetjens MT.   +6 more
europepmc   +1 more source

Screening for Mutations in the Steroidogenic Acute Regulatory Protein and Steroidogenic Factor-1 Genes, and in CYP11A and Dosage-Sensitive Sex Reversal-Adrenal Hypoplasia Gene on the X Chromosome, Gene-1 (DAX-1), in Hyperandrogenic Hirsute Women¹ [PDF]

, 2001
Rosa Calvo, Miryam Asunción, Dolores Tellerı́a, José Sancho, José L. San Millán, Héctor F. Escobar‐Morreale   +5 more
openalex   +1 more source