Results 81 to 90 of about 4,059 (184)

Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses

The American Journal of Human Genetics, 1997
Hereditary multiple exostoses (HME), the most frequent of all skeletal dysplasias, is an autosomal dominant disorder characterized by the presence of multiple exostoses localized mainly at the end of long bones. HME is genetically heterogeneous, with at least three loci, on 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3).
Christophe Philippe, Anthony P. Monaco, A. Hamish, Dan E. Wells, Mark E. Emerton, R.W. Simpson, Daniel E. Porter   +6 more
openaire   +3 more sources

Hereditary Multiple Exostoses: Current Insights

Orthopedic Research and Reviews, 2019
Antonio D’Arienzo, Lorenzo Andreani, Federico Sacchetti, Simone Colangeli, Rodolfo Capanna Department of Translational Research on New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Federico SacchettiDepartment of
D'Arienzo A, Andreani L, Sacchetti F, Colangeli S, Capanna R   +4 more
doaj  

Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report

Egyptian Journal of Medical Human Genetics
Background Multiple cartilaginous exostoses (MCE) are a rare genetic disorder characterized by multiple osteochondromas in the metaphysis of long bones. Case Presentation.
Gozde Atasever Yildirim, Ozlem Anlas, Rabia Miray Kisla Ekinci   +2 more
doaj   +1 more source

An Updated Review of the Anticancer Mechanisms and Therapeutic Potential of Naringenin

Food Science &Nutrition, Volume 13, Issue 7, July 2025.
Naringenin is a bioactive compound widely distributed in the citrus family, belonging to polyphenols known for several health‐promoting properties, including anticancer activity. Several evidence‐based reports have proved that Naringenin can reduce tumorigenesis via inhibiting NRF2, TNF, NF‐κB, NR3C1, P13K/AKT, TGF‐β1/Smad3, and Bcl‐2 expression ...
Ahmad Mujtaba Noman, Muhammad Tauseef Sultan, Hassan Raza, Muhammad Imran, Muzzamal Hussain, Ahmed Mujtaba, Ehab M. Mostafa, Mohammed M. Ghoneim, Samy Selim, Soad K. Al Jaouni, Mohamed A. Abdelgawad, Tadesse Fenta Yehuala, Suliman A. Alsagaby, Waleed Al Abdulmonem   +13 more
wiley   +1 more source

It's Time to Unite: Diversity and Coordination of Thymic Stromal Cells for T Cell Selection and Organ Integrity

Immunological Reviews, Volume 332, Issue 1, July 2025.
ABSTRACT The thymus is a primary lymphoid organ for generating a diverse yet self‐tolerant T cell repertoire. Among the thymic stromal cells that create the thymic microenvironment, thymic epithelial cells (TECs) have received the most attention because of their distinctive functions in the repertoire selection of T cells. Other types of thymic stromal
Ryunosuke Muro, Takeshi Nitta
wiley   +1 more source

The elusive functions of EXT1 and EXT2

, 2021
M.Phil.
openaire   +1 more source

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Prague Medical Report, 2017
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová   +9 more
doaj   +1 more source

Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management

Hereditary Cancer in Clinical Practice, 2004
Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Hameetman Liesbeth, Bovée Judith VMG, Taminiau Antonie HM, Kroon Herman M, Hogendoorn Pancras CW   +4 more
doaj   +1 more source

Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model

Journal of Bone Oncology, 2018
Background: The most serious complication of hereditary multiple exostoses(HME) is chondrosarcoma transformation. Numerous authors have suggested that screening might allow early chondrosarcoma detection.
Li Fei, Clara Ngoh, Daniel E. Porter
doaj   +1 more source

Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas [PDF]

, 1998
Julia A. Bridge, Mari Nelson, Charlotte Örndal, Paramjit Bhatia, James R. Neff   +4 more
openalex   +1 more source