Results 61 to 70 of about 9,132 (188)

Putative modifier genes in mevalonate kinase deficiency

Molecular Medicine Reports, 2016
Mevalonate kinase deficiency (MKD) is an autosomal recessive auto‑inflammatory disease, caused by impairment of the mevalonate pathway. Although the molecular mechanism remains to be elucidated, there is clinical evidence suggesting that other regulatory genes may be involved in determining the phenotype.
MARCUZZI, ANNALISA, VOZZI, DIEGO, GIRARDELLI, MARTINA, TRICARICO, PAOLA MAURA, Knowles, Alessandra, CROVELLA, SERGIO, VUCH, JOSEF, TOMMASINI, ALBERTO, PISCIANZ, ELISA, BIANCO, ANNA MONICA ROSARIA   +9 more
openaire   +4 more sources

Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation

Frontiers in Immunology, 2021
A growing number of monogenic immune-mediated diseases have been related to genes involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate cytoskeleton defects to autoinflammatory diseases and primary immunodeficiencies.
Riccardo Papa, Federica Penco, Stefano Volpi, Marco Gattorno   +3 more
doaj   +1 more source

Tissue Resident Memory Cells: Friend or Foe?

Immunology, EarlyView.
Tissue‐resident memory T cells (TRM cells) are specialised immune cells in barrier tissues like the lungs, skin and gut, providing rapid host defence and tumour surveillance. Their retention and differentiation are regulated by molecules such as CD69, CD103 and TGF‐β. Dysregulation of TRM cells can lead to chronic activation, driving conditions such as
Chidimma F. Chude, Jude E. Uzonna, Janilyn Arsenio   +2 more
wiley   +1 more source

AA amyloidosis presenting with acute kidney injury, curable or not?

The Turkish Journal of Pediatrics, 2022
Background. Amyloidosis is a group of disorders with extracellular accumulation of autologous fibrillary insoluble proteins in various tissues and organs such as the kidneys, liver, spleen, heart and gastrointestinal tract leading to impairment of
Berfin Uysal, Berna Aytaç Vuruşkan
doaj   +1 more source

PW02-020 - Colitis revealing mevalonate kinase deficiency [PDF]

Pediatr Rheumatol Online J, 2013
Hyperimmunoglobulinemia D (HIDS) is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene (MVK). HIDS is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea and vomiting.
Michael L, Camille J, Brigitte B.
europepmc   +3 more sources

Towards an integrated molecular understanding of plant hormones

Journal of Integrative Plant Biology, EarlyView.
This review offers a comprehensive overview of the nine plant hormones, delving into their biosynthesis, transport, signaling and crosstalk mechanisms. Because the complexity of plant hormonal control goes beyond these core elements, additional specific features are discussed. Lastly, this review highlights how fundamental insights drive hormonal‐based
Louise Vilain, Marie‐Laure Fauconnier, Manon Genva   +2 more
wiley   +1 more source

Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG) [PDF]

, 2017
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation.
Celli, L, Celli, M., D'Alfonso, Y, D'Eufemia, P, Febbo, A, Persiani, P, Turchetti, A., Zambrano, A   +7 more
core   +1 more source

Periodontal Medicine Rewired: Mechanisms Linking Periodontitis to Systemic Diseases

Journal of Periodontal Research, EarlyView.
This review reorganizes decades of research in periodontal medicine into a multi‐dimensional framework, illustrating how periodontitis influences systemic health through at least seven interconnected mechanisms. ABSTRACT Periodontitis is now recognized not merely as a localized oral condition but as a systemic disease linked to over 70 communicable and
Mario Romandini, George Hajishengallis, Mike Curtis, Giacomo Baima   +3 more
wiley   +1 more source

Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases

Frontiers in Immunology, 2022
Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit.
Philippe Guillem, Philippe Guillem, Philippe Guillem, Dillon Mintoff, Dillon Mintoff, Dillon Mintoff, Mariam Kabbani, Elie Cogan, Elie Cogan, Virginie Vlaeminck-Guillem, Virginie Vlaeminck-Guillem, Agnes Duquesne, Farida Benhadou, Farida Benhadou, Farida Benhadou   +14 more
doaj   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core