Results 41 to 50 of about 6,236 (217)

P03-001 - PFAPA and MEFV genes [PDF]

Pediatric Rheumatology, 2013
Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Restless, headache, abdominal pain, vomiting, hepatosplenomegaly and arthralgia are less common symptoms seeing in this disease.
Salehzadeh, F, Vahedi, M, Jahangiri, S, Hosseiniasl, S   +3 more
openaire   +1 more source

Exploring Diagnostic Challenges: A Case Report Commentary on “Solving a Diagnostic Dilemma in a Patient With Periodic Fever—When the Pieces of the Puzzle Finally Fit” [PDF]

Clin Case Rep
ABSTRACT This case highlights the diagnostic challenge of distinguishing periodic fever syndromes with prominent neurological features from interferonopathies. While the absence of specific features on MRI/MRA and SAVI reduces the likelihood of certain subtypes, genetic evaluation involving interferon pathway genes remains important.
Kelesoglu F, Polat A.
europepmc   +2 more sources

patients-MEFV-20180510.xlsx

, 2019
MEFV muations in sJIA ...
Linqing Zhong (7520165)
core   +1 more source

Çocuklarda Henoch-Schonlein purpurasının prezentasyonu ve klinik seyri üzerine MEFV varyantlarının etkisi?

, 2023
Giriş ve Amaç: Henoch-Schonlein Purpura'lı (HSP) çocuklarda MEFV varyantlarının sıklığı ve renal tutulum dahil klinik seyir üzerindeki etkilerinin değerlendirilmesi amaçlandı.
Meral BAYRAM, Ceyhun AÇARI, YILDIZ, Gizem, Alper SOYLU, SOYLU, Alper, KAVUKÇU, Salih, Gizem YILDIZ, BAYRAM, Meral TORUN, Salih KAVUKÇU, AÇARI, Ceyhun   +9 more
core   +1 more source

Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene

, 2018
Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF.
Ayla Özvarnalı, Ahmet Gül, Derya Öztürk, Ozturk, Sukru, Gül, Ahmet, Palanduz, Sukru, Kıvanç Çefle, Ayşe Palanduz, Cefle, Kıvanç, Palanduz, Ayse, Ender Coşkunpınar, Şükrü Öztürk, Ozvarnali, Ayla, Coskunpinar, Ender, Ozturk, Derya, Şükrü Palanduz   +15 more
core   +1 more source

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant

Case Reports in Pediatrics, 2021
Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) gene abnormality.
Tomonobu Sato, Shunichiro Takezaki, Takeru Goto, Shinichi Ishikawa, Kazumi Oura, Asuka Takahata, Haruki Shiraishi, Yuji Maruo, Norio Sato, Takashi Suganuma, Makoto Mikawa   +10 more
doaj   +1 more source

Mediterranean fever gene variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus

Frontiers in Immunology
BackgroundSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by loss of immune tolerance, leading to systemic inflammation and organ damage. The Mediterranean fever (MEFV) gene, primarily linked to familial Mediterranean fever (FMF)
Yushiro Endo, Tomohiro Koga, Lamiaa Mohamed, Yoshika Tsuji, Masataka Umeda, Hiroko Hayashi, Tatsuya Kishino, Atsushi Kawakami   +7 more
doaj   +1 more source

11 MEFV in healthy controls.xlsx

, 2019
MEFV mutations in healthy ...
Linqing Zhong (7520165)
core   +1 more source

Bases genètiques de la febre mediterrània familiar a la població espanyola, dinàmica genòmica i història natural de les mutacions al locus "MEFV" [PDF]

, 2004
[cat] La febre mediterrània familiar (FMF) afecta unes 10.000 i 100.000 persones d'origen principalment àrab, armeni, turc i jueu i és caracteritza per la recurrència d'episodis autolimitats de febre i inflamació de seroses, sense una causa infecciosa ...
Aldea Tomé, Ana Isabel, Aldea Tomé, Anna   +1 more
core  

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source