Results 71 to 80 of about 1,058,904 (200)

An Activating Variant inCTNNB1is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia

The Journal of Clinical Endocrinology & Metabolism, 2020
AbstractContextThe WNT/β-catenin pathway is central to the pathogenesis of various human diseases including those affecting bone development and tumor progression.ObjectiveTo evaluate the role of a gain-of-function variant in CTNNB1 in a child with a sclerosing bone dysplasia and an adrenocortical adenoma.DesignWhole exome sequencing with corroborative
Hui Peng, Zandra A Jenkins, Ruby White, Sam Connors, Matthew F Hunter, Anne Ronan, Andreas Zankl, David M Markie, Philip B Daniel, Stephen P Robertson   +9 more
openaire   +2 more sources

Clinical Application of Peripheral Blood Biomarkers for Solid Tumors

MedComm, Volume 7, Issue 3, March 2026.
Peripheral blood biomarkers provide a minimally invasive, dynamic, and potentially more accurate means to obtain a comprehensive tumor profile. Technologies for detecting them are advancing, and with the help of artificial intelligence, they are being used more and more often for cancer diagnosis, prognostic assessment, and therapeutic monitoring ...
Xinru Tu, Mengyan Tu, Junfen Xu
wiley   +1 more source

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

, 2021
Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by osteosclerosis and platyspondyly. DOS is genetically heterogeneous and causally associated with mutations in three genes, SLC29A3, CSF1R, and TNFRSF11A. TNFRSF11A has been known
Long Guo, Rahsan Gocmen, Li Yan, Ekim Z. Taskiran, Guo, Long, Wang, Zheng, Naomichi Matsumoto, ÜTİNE, GÜLEN EDA, Shiro Ikegawa, Pelin O. Simsek-Kiper, İMREN, GÖZDE, Noriko Miyake, Gen Nishimura, GÖÇMEN, RAHŞAN, Nishimura, Gen, Xue, Jing-Yi, Gulen Eda Utine, Zheng Wang, Beren Karaosmanoglu, Yan, Li, Miyake, Noriko, Jing-Yi Xue, Taskiran, Ekim Z., Simsek-Kiper, Pelin O., Gozde Imren, Matsumoto, Naomichi, KARAOSMANOĞLU, BEREN, Ikegawa, Shiro   +27 more
core   +1 more source

Camurati-Engelmann Disease: A Narrative Review of Clinical Features, Molecular Pathogenesis, Diagnosis, and Emerging Targeted Therapies [PDF]

Journal of Clinical and Diagnostic Research
Camurati-Engelmann Disease (CED) is a very rare, autosomal-dominant type sclerosing bone dysplasia that is characterised by progressive diaphyseal hyperostosis, cortical thickening of long bones, along with variable involvement of skull-base.
Shashank Yadav, Ratnakar Ambade, Harsh Patel, Ansh Khanduja, Bhagyesh Sapkale   +4 more
doaj   +1 more source

Inflammation and Cancer: Molecular Mechanisms and Therapeutic Targets

MedComm, Volume 7, Issue 2, February 2026.
Chronic inflammation fuels tumorigenesis via “internal drivers” and “external attractions.” Targeting these core mechanisms with combined therapies/novel deliveries enables precise, potent anti‐inflammatory–antitumor treatment. ABSTRACT Inflammation is a core pathological factor regulating tumor initiation, progression, and therapeutic resistance, and ...
Xiaodie Liu, Ziyuan Wang, Huirong Zhu, Yicun Han, Qing Ji   +4 more
wiley   +1 more source

Mutations of the GNAS 1 gene, stromal cell dysfunction and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone

, 2000
Activating missense mutations of the GNAS1 gene, encoding the alpha subunit of the stimulatory G protein (Gs), have been identified in patients with the McCune-Albright syndrome (MAS; characterized by polyostotic fibrous dysplasia, café au lait skin ...
BIANCO, Paolo, RIMINUCCI, MARA, CORSI, ALESSANDRO, FISHER LW, KUZNETSOV SA, WIENTROUB S, COLLINS MT, SPIEGEL AM, GEHRON ROBEY P., MAJOLAGBE A, MANKANI MH, BONE HG   +11 more
core   +1 more source

Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT [PDF]

, 2019
Melorheostosis, also known as Leri’s disease, is a rare benign form of mesodermal mixed sclerosing bone dysplasia. We report the unusual case of a 14-year-old boy with melorheostosis in the lower extremity that went undiagnosed due to concurrent Ewing ...
Asmar, Karl, Boulos, Fouad I., Abi-Ghanem, Alain S., Muwakkit, Samar A.   +3 more
core   +1 more source

Osteopoikilosis: Rare case with incidental radiographic findings

, 2020
We report a case of benign, autosomal dominant, sclerosing dysplasia of bone in a 41-year-old man. This is a very rare disorder character-ized by numerous, symmetric, homogenous bone islands.
Azarfar, Azin, Taj, Hiffsa, Seifert, Michael   +2 more
core   +1 more source

Single‐cell RNA sequencing revealed the T‐cell heterogeneity and exhaustion subsets of Helicobacter pylori‐induced gastritis‐to‐cancer transformation

VIEW, Volume 7, Issue 1, February 2026.
H. pylori infection is a major cause of stomach cancer, but its effect on immune cells in tumors is unclear. Using single‐cell sequencing, we mapped the stomach tumor environment and discovered a specific exhausted T‐cell subtype, marked by the FYB1 gene, that is abundant in H. pylori‐positive tumors and linked to patient prognosis. Our findings reveal
Yanhui Yang, Yanxia Liu, Xiaole Guo, Zhaorun Li, Ziyu Liu, Shuming Zhang, Yuma Yang, Jun Liu, Shoucheng Ma, Linke Ma, Xianmei Chen, Xue Li, Yuanyuan Tang, Xiaoling Ding, Xiaofei Li, Qian Hao, Yanjie You, Tingting Yang, Qingrui Li, Xue Zhang, Sihan Zhang, Hengjun Gao, Shengjuan Hu   +22 more
wiley   +1 more source

Review of Literature of Florid Cemento-Osseous Dysplasia (FCOD)

, 2023
Florid cemento-osseous dysplasia (FCOD) is a rare, multifocal fibro-osseous dysplasia affecting tooth-bearing areas of the jaw, characterized by replacement of normal trabecular bone   with disorganized osseous tissue and dense acellular ...
P. Swetha, Anil Budumuru, Swetha , P., Budumuru , Anil, A. Satya Tejaswi, Ramesh Tatapudi, Ravikanth , M., Tejaswi , A. Satya, M. Ravikanth, Tatapudi , Ramesh   +9 more
core   +1 more source