Results 131 to 140 of about 1,664,726 (300)

Peripheral Blood DNA Methylation Changes Precede Lymphoma Diagnosis in Primary Sjögren's Disease

Arthritis &Rheumatology, EarlyView.
Objective Primary Sjögren's disease (SjD) is a systemic autoimmune disease associated with an increased risk of lymphoma. The molecular mechanisms underlying lymphomagenesis remain poorly understood, and sensitive biomarkers for early identification of patients at high risk of developing lymphoma are lacking.
Hanna Lidberg, Cecilia Fugmann, Juliana Imgenberg‐Kreuz   +2 more
wiley   +1 more source

Type I Interferon Drives Dysfunction of a Distinct CD8+ HLA‐DRB1+ T Cell Subset in Systemic Lupus Erythematosus

Arthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) is characterized by type I interferon (IFN) signaling and adaptive immune dysregulation. We previously identified hypomethylation of HLA‐DRB1 and STAT1 in SLE CD8+ T cells, enabling aberrant IFN‐driven HLA‐DRB1 expression and expansion of a distinct CD8+ T cell subset. This study characterized CD8+ HLA‐DRB1+
Huizhong Long, Elio Carmona, Mikhail G. Dozmorov, Amr H. Sawalha   +3 more
wiley   +1 more source

Semen quality in men with Y chromosome aberrations

, 2010
Infertile males sometimes bear structurally balanced chromosome aberrations, such as translocations and inversions, which involve both autosomes and sex chromosomes.
MARCUCCI, LIANA, LENZI, Andrea, ANTONELLI, Anna, ELLI, Raffaella, A. Radicioni, F. Lombardo, LOMBARDO, Francesco, RADICIONI, Antonio, R. Elli, A. Antonelli, L. Gandini, GANDINI, Loredana, N. Tanzi, A. Lenzi, L. Marcucci, D. Paoli, PAOLI, Donatella   +16 more
core   +1 more source

Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H.G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce BJ van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 more
wiley   +1 more source

CASTOR1 regulates humoral immune responses and contributes to the pathogenesis of systemic lupus erythematosus

Arthritis &Rheumatology, Accepted Article.
Objectives CASTOR1 senses arginine and regulates mammalian target of rapamycin complex 1 (mTORC1), a central metabolic signaling molecule. This study aimed to elucidate the roles of CASTOR1 in humoral immune responses. Methods We analyzed human B cell transcriptomes from healthy controls and patients with systemic lupus erythematosus (SLE) via ...
Takeshi Kusuda, Toshihiko Komai, Takahiro Itamiya, Tatsuki Abe, Tomohisa Okamura, Keishi Fujio   +5 more
wiley   +1 more source

Human Monocytic Models Reveal Genotype‐Dependent Inflammatory Programs in VEXAS Syndrome

Arthritis &Rheumatology, Accepted Article.
Objectives VEXAS syndrome is a severe X‐linked autoinflammatory disorder caused by somatic mutations in ubiquitin‐like modifier activating enzyme 1 (UBA1), with clinical outcomes that vary by UBA1 genotype. We aimed to elucidate genotype‐specific inflammatory programs and identify potential therapeutic targets.
Kana Higashitani, Tatsuma Ban, Yohei Kirino, Go R Sato, Soichiro Adachi, Yuki Iizuka, Kayo Harita, Ayaka Maeda, Osamu Ohara, Hideaki Nakajima, Tomohiko Tamura   +10 more
wiley   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

Ocular higher-order aberrations and visual performance [PDF]

, 2011
Since adaptive optics was first used to correct the monochromatic aberrations of the eye over a decade ago there has been considerable interest in correcting the ocular aberrations beyond defocus and astigmatism.
Young, Laura Kate, YOUNG, LAURA,KATE
core  

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

Clinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung, Nicholas Ieronimakis, Bothaina Mousa, Emily D. Sheikh, Sarah E. Ligon, Joshua W. Monson, Jennifer R. Damicis, Hillary J. Kinsman, Lydia E. Bettridge, Samuel L.M. Arnold, Edward J. Kelly, Jashvant D. Unadkat, Joanne Wang   +12 more
wiley   +1 more source

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq

BMC Pregnancy and Childbirth
Background The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Jiazhen Chang, Mengmeng Li, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Yan Lü, Qingwei Qi   +7 more
doaj   +1 more source