Results 61 to 70 of about 8,289 (238)

Identification of Histone Deacetylase Inhibitor Targeting Type I Interferon and B Cell Abnormalities in Systemic Lupus Erythematosus

Arthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) is characterized by increased Type I interferon (IFN‐I) and autoantibody production. This study aimed to identify drugs that can inhibit both IFN‐I and autoantibody production. Methods We identified an inhibitor of IFN‐I production from a chemical library.
Takehiro Hirayama, Hachiro Konaka, Yasuhiro Kato, Takayuki Shibahara, Chisato Nishizawa, Kohei Tsujimoto, JeongHoon Park, Eri Itotagawa, Tatsunori Jo, Masayuki Nishide, Sumiyuki Nishida, Yoshihito Shima, Masashi Narazaki, Wataru Aoki, Ken J Ishii, Hyota Takamatsu, Atsushi Kumanogoh   +16 more
wiley   +1 more source

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

Autosomal Dominant Alport′s syndrome: Study of a Large Tunisian Family

Saudi Journal of Kidney Diseases and Transplantation, 2006
Alport′s syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport′s syndrome is often associated with sensorineural deafness
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Hmida M, Gubler M, Ayadi H, Hachicha J   +10 more
doaj  

Nationwide Temporal Trends in Adverse Pregnancy Outcomes and Treatments in Systemic Lupus Erythematosus Pregnancy Over Two Decades in Sweden

Arthritis &Rheumatology, EarlyView.
Objective This nationwide descriptive study examined temporal trends in adverse pregnancy outcomes (APOs) and treatments in systemic lupus erythematosus (SLE) pregnancies in Sweden over 2003 to 2022. Methods Using nationwide Swedish registers, we identified 1,417 pregnancies of women with prevalent SLE and delivery dates in 2003 to 2022 and matched ...
Ngoc V. Nguyen, Anna Sandström, Annica Dominicus, Elisabet Svenungsson, Karin Hellgren, Julia F. Simard, Elizabeth V. Arkema   +6 more
wiley   +1 more source

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

Kidney International Reports, 2017
X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity ...
Tomohiko Yamamura, Kandai Nozu, Xue Jun Fu, Yoshimi Nozu, Ming Juan Ye, Akemi Shono, Satoko Yamanouchi, Shogo Minamikawa, Naoya Morisada, Koichi Nakanishi, Yuko Shima, Norishige Yoshikawa, Takeshi Ninchoji, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima   +15 more
doaj   +1 more source

Efficacy and Safety of Subcutaneous Anifrolumab in Systemic Lupus Erythematosus: A Randomized, Phase 3 Study

Arthritis &Rheumatology, EarlyView.
Objective The multinational, phase 3, double‐blind, placebo‐controlled TULIP‐SC trial evaluated the efficacy and safety of subcutaneous anifrolumab in adults who have moderate to severe systemic lupus erythematosus (SLE) activity, despite receiving standard therapy. Methods Adults with SLE received subcutaneous anifrolumab 120 mg or placebo once weekly
Susan Manzi, Ian N. Bruce, Eric F. Morand, Richard Furie, Yoshiya Tanaka, Kenneth C. Kalunian, Anca Askanase, Patricia Puzio, Emon Khan, Jenny Wissmar, Michael Song, Catharina Lindholm, for the TULIP‐SC investigators   +12 more
wiley   +1 more source

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome

Kidney Medicine, 2019
Alport syndrome is a hereditary glomerular nephritis associated with hearing loss and eye abnormalities and is classified as X-linked Alport syndrome, autosomal recessive Alport syndrome, and autosomal dominant Alport syndrome.
Taro Akihisa, Masayo Sato, Yoshie Wakayama, Sekiko Taneda, Shigeru Horita, Orie Hirose, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki   +12 more
doaj   +1 more source

Dysregulation of U12‐Type Splicing in Lupus Neutrophils

Arthritis &Rheumatology, Accepted Article.
Abstract. Objective Neutrophil dysfunction is a hallmark of systemic lupus erythematosus (SLE), but its molecular basis remains unclear. This study explores transcriptional and post‐transcriptional changes in low‐density granulocytes (LDGs), a proinflammatory neutrophil subset expanded in SLE, focusing on NADPH oxidase (Nox) function and minor intron ...
Luz P. Blanco, Binod Regmi, Carmelo Carmona‐Rivera, Yudong Liu, Xiantao Wang, Philip M. Carlucci, Monica M. Jackson, Zerai Manna, Sarfaraz Hasni, Markus Hafner, Hong‐Wei Sun, Mariana J. Kaplan   +11 more
wiley   +1 more source

Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney

Kidney International Reports
Introduction: Recent genetic studies have shown that Alport syndrome (AS) is much more prevalent than clinically recognized, suggesting that atypical cases may phenocopy other kidney diseases.
Lisa Loderbauer, Karl X. Knaup, Daniel Reisenbüchler, Nicolas Kaiser, Stephanie Naas, Karen Schneider, Florian J. Wopperer, Antje Wiesener, Francesca Pasutto, Mario Schiffer, Christoph Daniel, Katharina A.E. Broeker, Dorit Merhof, Maike Buettner-Herold, Michael S. Wiesener   +14 more
doaj   +1 more source

Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome

Case Reports in Cardiology, 2017
Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of ...
Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko   +4 more
doaj   +1 more source