Results 121 to 130 of about 475,202 (310)

Integrative miRNA-mRNA profiling uncovers mechanisms of belimumab action in systemic lupus erythematosus

Frontiers in Immunology
Systemic lupus erythematosus (SLE) is a complex autoimmune disorder driven by autoreactive B cells and characterized by the production of pathogenic autoantibodies.
Maria Royo, Blanca Joseph-Mullol, Sebastian Sandoval, Teresa Moliné, Cristina Solé, Josefina Cortés-Hernández   +5 more
doaj   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Lupus Vulgaris [PDF]

Proceedings of the Royal Society of Medicine, 1947
openaire   +3 more sources

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

LP-048 Characteristics and clinical outcome of incomplete systemic lupus erythematosus

Lupus Science and Medicine, 2023
Anastasiia Shumilova, Evgeniy Nasonov, Yulia Gorbunova, Tatiana Popkova, Tatiana Panafidina, Liubov Kondrateva, Alexandr Lila   +6 more
doaj   +1 more source

Lupus hand

Rheumatology, 2020
Arghya Chattopadhyay, Aman Sharma
openaire   +2 more sources

Lupus nephritis [PDF]

Arthritis & Rheumatism, 1962
J, RAITT, H R, HOLMAN
openaire   +2 more sources

LP-126 The infectious complication in multitarget therapy of class V lupus nephritis: a case report

Lupus Science and Medicine, 2023
Anastasiia Shumilova, Tatiana Popkova, Tatiana Panafidina, Aleksandr Lila   +3 more
doaj   +1 more source

Phenotypic profiling of pristane‐induced mimicking human systemic lupus erythematosus in Macaca fascicularis

Animal Models and Experimental Medicine, EarlyView.
Pristane (5 mL/kg) induced a robust systemic lupus erythematosus (SLE)‐like phenotype in Macaca fascicularis, marked by elevated antinuclear antibody (ANA) levels and systemic clinical, hematological, and biochemical changes. This model closely reflects human SLE and provides a translational platform for disease studies and therapeutic evaluation ...
Jonny Jonny, Soetojo Wirjopranoto, Chairul A. Nidom, I Ketut Sudiana, Terawan A. Putranto, Elisa D. Pratiwi, Tiza W. Mawaddah, Astria N. Nidom, Reviany V. Nidom, Setyarina Indrasari, Irma Y. Rosytania, Hiqmah Y. Yana, Sanindita Kusumastuti   +12 more
wiley   +1 more source