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http://dx.doi.org/10.1007/s00401-022-02422-7 | DOI Listing |
Clin Exp Immunol
September 2025
Rheumatology Department, Université Paris-Saclay, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1184, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris (APHP), CEA , FHU CARE, Le Kremlin Bicêtre, France.
Introduction: Immunosenescence remodels immune functions and was first described with aging. It is present in 25% of cancer patients but has also been described in patients with Immune-mediated inflammatory diseases (IMIDs). This study aims at quantifying cells exhibiting a phenotype of senescence in CD4+ (T4sen) and CD8+ (T8sen) T cells, analyzing its potential drivers and the effect of anti-TNF treatment in a prospective cohort of patients with rheumatoid arthritis (RA), spondyloarthritis (SpA) and Sjögren disease (SjD).
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September 2025
Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital(Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China; Department of Neck and Thoracic Surgery, Yingde People's Hospital, Yingde, Guangdong, China. Electronic add
Background: Recurrent 10p15.3 microdeletion syndrome is a rare multisystem disorder characterized by abnormal facial features, global developmental delay (DD)/intellectual disability (ID), short stature, hand/foot malformation, and congenital heart defects (CHDs). However, the specific genetic defects that contribute to the cardiac phenotype remain unclear.
View Article and Find Full Text PDFBrain Dev
September 2025
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.
Hypomyelinating leukodystrophies (HLDs) are a group of inherited disorders characterized by impaired myelin formation in the central nervous system. Among them, Pelizaeus-Merzbacher disease (PMD) is a well-defined X-linked leukodystrophy caused by mutations in the PLP1 gene, including duplications, missense variants, and null mutations. Recent studies have revealed that different types of PLP1 mutations lead to distinct pathomechanisms: while missense mutations induce endoplasmic reticulum stress and activate the unfolded protein response (UPR), PLP1 duplications cause aberrant intracellular trafficking and cholesterol accumulation without UPR activation.
View Article and Find Full Text PDFMol Genet Genomics
September 2025
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012, Bern, Switzerland.
The aim of this study was to investigate three unrelated Simmental calves with atypical white coat color, identify potential genetic causes using a trio-based whole-genome sequencing approach, and assess the prevalence of the identified variants in the breed. Several inherited alleles affecting coat color, ranging from fawn to red spotted and white-headed, have been described in Simmental cattle originating from Switzerland. However, no genetic variant has yet been associated with an almost completely white coat in this breed.
View Article and Find Full Text PDFExp Gerontol
September 2025
Grupo de Investigación en Neurosciencias y Muerte Celular, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia; Departamento de Pediatría, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
Wiedemann-Rautenstrauch syndrome (WRS) is a rare neonatal progeroid disorder primarily associated with pathogenic variants in POLR3A. However, the pathogenicity of certain variants remains unclear. Here, we report a WRS case carrying the POLR3A c.
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