Results 81 to 90 of about 1,294,883 (245)

Analysis Of Mefv Gene Alternatively Spliced Transcripts Expression Patterns In Cell Culture Models [PDF]

, 2014
Tez (Yüksek Lisans) -- İstanbul Teknik Üniversitesi, Fen Bilimleri Enstitüsü, 2013Thesis (M.Sc.) -- İstanbul Technical University, Institute of Science and Technology, 2013Ailevi Akdeniz Ateşi (AAA), bölgemizdeki görülme sıklığı 1/200 ila 1/1073 arasında
Abacı, İrem
core  

Autoinflammatory diseases: a possible cause of thrombosis? [PDF]

, 2015
Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder,
Francesco Orlandini, Micaela La Regina, Raffaele Manna   +2 more
core   +2 more sources

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy

Prenatal Diagnosis, Volume 45, Issue 9, Page 1151-1159, August 2025.
ABSTRACT Objective Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X‐linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health.
Yan Lü, Jiazhen Chang, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Mengmeng Li, Kaili Yin, Xueting Yang, Qingwei Qi   +9 more
wiley   +1 more source

Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort

Frontiers in Pediatrics, 2022
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting phenotypic heterogeneity. It is a clinically diagnosed disease supported by MEditerranean FeVer (MEFV) gene mutation analysis.
Kübra Öztürk, Taner Coşkuner, Esra Baglan, Hafize Emine Sönmez, Gülçin Otar Yener, Figen Çakmak, Fatma Gül Demirkan, Ayşe Tanatar, Serife Gül Karadag, Semanur Ozdel, Ferhat Demir, Mustafa Çakan, Nuray Aktay Ayaz, Betül Sözeri   +13 more
doaj   +1 more source

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications [PDF]

, 2017
G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However, here we describe two boys of Pakistani origin who were found to have G6PC3 deficiency due to c ...
Angelino, Banka, Banka, Boztug, Bégin, de Luca, Desplantes, Dieckgraefe, Fata, Jun, Korzenik, Lin, Marks, Martinon, McGonagle, O’Neill, Pathak, Rieber, Rimessi, Uzel, Vats, Visser, Yang   +22 more
core   +4 more sources

Patients With IgA Vasculitis and Kawasaki Disease Show Dysregulated Interferon Signature

International Journal of Rheumatic Diseases, Volume 28, Issue 7, July 2025.
ABSTRACT Objective IgA vasculitis (IgAV) and Kawasaki disease (KD) are the most common forms of childhood vasculitis. Although various factors such as viral infections, genetic factors, and environmental factors are involved in the development of both diseases, their pathogenesis remains unclear.
Sevki Erdem Varol, Cisem Cinar, Nihan Burtecene, Sezgin Sahin, Mehmet Yildiz, Kenan Barut, Haluk Cokugras, Sinem Firtina, Ozgur Kasapcopur, Ayca Kiykim   +9 more
wiley   +1 more source

Geographical Distribution of the Most Frequent Mutations of Familial Mediterranean fever in the World [PDF]

Taṣvīr-i salāmat, 2016
Background and objectives: Familial Mediterranean Fever (FMF) is an autosomal recessive disease. Generally, the Mediterranean basin is the region where the first cases of FMF have been identified. The gene responsible for FMF is gene MEFV.
Soraya Hadi, Behrooz Sari Sarraf, Zhila Khamnian, Saeid Dastgiri   +3 more
doaj  

Kawasaki disease triggered by EBV virus in a child with Familial Mediterranean Fever

Italian Journal of Pediatrics, 2019
Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, secondary to mutation of MEFV gene, and typically expressed with recurrent attacks of fever, serositis, rash, aphthous changes in lips and/or oral mucosa.
Maria Cristina Maggio, Carmelo Fabiano, Giovanni Corsello   +2 more
doaj   +1 more source

OR2-002 – The risk of FMF in MEFV heterozygotes [PDF]

, 2013
International ...
E Cochet, E Grimprel, G Grateau, G Le Borgne, I Jéru, K Stojanovic, P Duquesnoy, S Amselem, S Karabina, V Hentgen   +9 more
core   +3 more sources

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult‐Onset Still's Disease

Arthritis &Rheumatology, Volume 77, Issue 5, Page 582-595, May 2025.
Objective Adult‐onset Still disease (AOSD) is a systemic autoinflammatory disorder (AID) of unknown etiology. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a large cohort with AOSD to investigate the underlying pathology and identify novel targets for potential treatment.
Joanne Topping, Leon Chang, Fatima Nadat, James A. Poulter, Alice Ibbotson, Samuel Lara‐Reyna, Christopher M. Watson, Clive Carter, Linda P. Pournara, Jan Zernicke, Rebecca L. Ross, Catherine Cargo, Paul A. Lyons, Kenneth G. C. Smith, Francesco Del Galdo, Jürgen Rech, Bruno Fautrel, Eugen Feist, Michael F. McDermott, Sinisa Savic, on behalf of the ImmunAID Consortium   +20 more
wiley   +1 more source