Results 81 to 90 of about 8,365 (219)

Real‐Time Evolutionary Landscape of the Bronchial Epithelium and Corresponding Dynamic Immune Cell Alterations in Lung Squamous Cell Carcinogenesis

Advanced Science, Volume 12, Issue 31, August 21, 2025.
Lung squamous cell carcinoma (LUSC) is often preceded by sequential premalignant lesions with an increasing probability of malignant progression. Using single‐cell RNA sequencing, the dynamic cellular evolution from normal lung to LUSC tissues is delineated; clonal structure of premalignant and malignant epithelium is reveled; the conversion of immune ...
Baohong Luo, Yuting Luo, Sicheng Chen, Tiantian Yang, Bixia Liu, Xiting Liao, Xiaoke Zheng, Tian Tian, Jinxu Liu, Qinru Zhan, Xiaohua Situ, Zhongpeng Xie, Yanxia Wang, Zhe‐Sheng Chen, Honglei Chen, Zheng Yang, Zunfu Ke   +16 more
wiley   +1 more source

Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan

Arthritis Research & Therapy, 2018
Background We showed previously that Japanese individuals with familial Mediterranean fever (FMF) have a more atypical phenotype compared to endemic areas.
Yushiro Endo, Tomohiro Koga, Midori Ishida, Yuya Fujita, Sosuke Tsuji, Ayuko Takatani, Toshimasa Shimizu, Remi Sumiyoshi, Takashi Igawa, Masataka Umeda, Shoichi Fukui, Ayako Nishino, Shin-ya Kawashiri, Naoki Iwamoto, Kunihiro Ichinose, Mami Tamai, Hideki Nakamura, Tomoki Origuchi, Kazunaga Agematsu, Akihiro Yachie, Junya Masumoto, Kiyoshi Migita, Atsushi Kawakami   +22 more
doaj   +1 more source

Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations [PDF]

Journal of Analytical Research in Clinical Medicine, 2015
Introduction: Patients with Henoch-Shonlein purpura (HSP) have higher rates of Mediterranean fever (MEFV) mutations comparing general population. To our knowledge, there is no report in this regard among Azeri Turkish children.
Mandana Rafeey, Morteza Jabbarpour-Bonyadi, Behzad Aliyari, Mahnaz Sadeghi-Shabestari, Fakhrossadat Mortazavi   +4 more
doaj   +1 more source

Autoinflammatory diseases: Update on classification diagnosis and management [PDF]

, 2017
The spectrum of systemic autoinflammatory disorders broadens continually. In part, this is due to the more widespread application of massive parallel sequencing, helping with novel gene discovery in this and other areas of rare diseases.
McDermott, MF, Pathak, S, Savic, S
core   +1 more source

KONYA BÖLGESİ’NDE MEFV GEN MUTASYONLARININ SIKLIĞI VE DAĞILIMI

Bozok Tıp Dergisi, 2018
Amaç: Ailesel Akdeniz Ateşi (FMF), otozomal resesif geçişli, tekrarlayan ateş ve serozit ataklarıyla karakterize inflamatuar bir hastalıktır. Bu çalışmada Konya ve çevresinde FMF ön tanısı alan hastalarda MEFV geni mutasyonlarının dağılımını ve sıklığını göstermeyi amaçladık.Gereç ve yöntem: Konya Necmettin Erbakan Üniversitesi Meram Tıp Fakültesi ...
openaire   +3 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

Involvement of Mediterranean fever gene mutations in colchicine-responsive enterocolitis: a retrospective cohort studyResearch in context

EBioMedicine
Summary: Background: The involvement of Mediterranean fever (MEFV) gene mutations in patients with inflammatory bowel disease unclassified (IBDU) remains unclear.
Hiroshi Nakase, Kohei Wagatsuma, Taku Kobayashi, Takayuki Matsumoto, Motohiro Esaki, Kenji Watanabe, Reiko Kunisaki, Teruyuki Takeda, Katsuhiro Arai, Takashi Ibuka, Dai Ishikawa, Yuichi Matsuno, Hirotake Sakuraba, Nobuhiro Ueno, Kaoru Yokoyama, Masayuki Saruta, Ryota Hokari, Junji Yokoyama, Shu Tamano, Masanori Nojima, Tadakazu Hisamatsu, Shusaku Yoshikawa, Sohachi Nanjo, Akira Andoh, Takeshi Kimura, Makoto Ooi, Ryosuke Kiyomori, Nobuo Aoyama, Fumihito Hirai, Atsushi Yamaushi, Masanao Nakamura, Fumikazu Koyama, Shuhei Hosomi, Kazuki Kakimoto, Satoshi Motoya, Ryosuke Sakemi, Hideo Suzuki, Tadashi Hosoya, Ken Takeuchi, Manabu Shiraki, Hideyuki Koide, Ichiro Takeuchi, Yosuke Furui, Kento Yoshida, Ayaka Minemura, Asami Matsumoto, Kentaro Oka   +46 more
doaj   +1 more source

Association between MEFV Mutations M694V and M680I and Behçet's Disease: A Meta-Analysis. [PDF]

PLoS ONE, 2015
Several studies have identified an association between Behçet's disease (BD) and mutations in the Mediterranean fever (MEFV) gene, which was originally linked to the autosomal recessive disease, Familial Mediterranean fever.
Ziyan Wu, Shulan Zhang, Jing Li, Si Chen, Ping Li, Fei Sun, Xiaoting Wen, Wenjie Zheng, Fengchun Zhang, Yongzhe Li   +9 more
doaj   +1 more source

Importance of allergic sensitisation for normal range of fractional exhaled nitric oxide in adolescents

Pediatric Allergy and Immunology, Volume 36, Issue 8, August 2025.
Abstract Background In addition to body anthropometrics, allergen sensitization has been shown to influence the levels of exhaled fractional nitric oxide (FeNO) in adults, but whether this relationship is valid also in younger age groups, how it compares to the fixed cut‐off levels recommended for clinical practice, and relates to respiratory symptoms ...
Jenny Hallberg, Gang Wang, Anna Bergström, Inger Kull, Erik Melén, Andrei Malinovschi   +5 more
wiley   +1 more source

MEFV gene mutation analysis in patient with PFAPA [PDF]

Introduction : syndrome PFAPA (periodic fever, aphthous mouth, pharyngitis and adenitis) is a clinical syndrome that usually occur in children younger than 5 years.
حسینی اصل, سید سعید, صالح زاده, فرهاد, واحدی نمین, مریم   +2 more
core   +1 more source