Results 51 to 60 of about 4,149 (173)

A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas

Oncology Letters, 2018
Multiple osteochondromas (MO) is an autosomal inherited disease that is characterized by benign bone tumors. However, the underlying mechanism of MO at a molecular level requires further investigation. The majority of mutations associated with MO occur in the exostosin glycosyltransferase genes (EXT)1 or EXT2.
Chen, Zhonghua, Bi, Qing, Kong, Mingxiang, Cao, Li, Ruan, Weiwei   +4 more
openaire   +3 more sources

Stress‐Induced Switch in Small Extracellular Vesicle Secretion: From Constitutive ‘Torn Bag Mechanism’ to Exocytosis

Journal of Extracellular Vesicles, Volume 15, Issue 8, August 2026.
Stress‐induced switch. Under stress conditions, small extracellular vesicle release shifts from the constitutive ‘torn bag mechanism’ to exocytosis of multivesicular endosomes. https://BioRender.com/xn1pa1e. ABSTRACT The biogenesis of small extracellular vesicles (sEVs) is only partially understood.
Dorina Lenzinger, Lilla Lankovics, István Dudás, Tünde Bárkai, Zsófia Szász, Mirjam Balbisi, Anthony Yan‐Tang Wu, Krisztina V. Vukman, Kelsey Fletcher, Attila Csomos, Zoltán Mucsi, Edina Bugyik, Csaba Cserép, Ádám Dénes, Szilvia Bősze, Lilla Turiák, Charles Pin‐Kuang Lai, Edit I. Buzás, Tamás Visnovitz   +18 more
wiley   +1 more source

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

BMC Medical Genetics, 2017
Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang, Tingting Yu   +4 more
doaj   +1 more source

The Synthetic Melanocortin Agonist NDP‐MSH Ameliorates THSD7A‐Associated Membranous Nephropathy in an Active Immunization Mouse Model

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
Active immunization with recombinant THSD7A in mice induces autoreactive B cell activation and differentiation into CD138+ antibody‐secreting cells, leading to the production of anti‐THSD7A autoantibodies, glomerular immune injury and proteinuria, characteristic of membranous nephropathy. NDP‐MSH treatment modulates the MITF/IRF4 axis in primed B cells,
Mingzhuo Zhang, Mengxuan Chen, Yan Ge, William Gunning, Rujun Gong   +4 more
wiley   +1 more source

Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients

Acta Haematologica Oncologica Turcica
Aim: To characterize the clinical, radiological, and genetic features of genetically confirmed hereditary multiple exostoses (HME) in patients presenting with multiple exostoses and to contribute to the understanding of the phenotypic and genotypic ...
Abdulkerim Kolkıran, Melike Ataseven Kulalı, Tuğba Daşar, Firdevs Dinçsoy Bir, Ahmet Kablan, Şükriye Yılmaz, Alişan Daylak, Şule Yeşil, Gürses Şahin   +8 more
doaj   +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

Integrated transcriptome–metabolome analyses reveal regulatory networks underlying soluble solids accumulation in Capsicum chinense fruits

The Plant Journal, Volume 127, Issue 1, July 2026.
SUMMARY The Capsicum genus shows remarkable phenotypic diversity, making it an excellent system to study non‐climacteric fruit ripening. Unlike climacteric model species, such as tomato (Solanum lycopersicum), the regulatory networks linking transcriptome and metabolome to fruit quality traits remain poorly understood in non‐climacteric crop species ...
Wesley Elias Bhering Barrios, Acácio Rodrigues‐Salvador, Rebeca Patrícia Omena‐Garcia, Débora Gonçalves Gouveia, Caris dos Santos Viana, Laise Rosado‐Souza, Pedro Marcus Pereira Vidigal, Diego Mauricio Riaño‐Pachón, Federico Scossa, Alisdair R. Fernie, Wagner L. Araújo, Agustin Zsögön, Adriano Nunes‐Nesi   +12 more
wiley   +1 more source

Understanding bidirectional and transactional relations in parent and offspring mental health: Using COVID‐19 pandemic data to gain insights

JCPP Advances, Volume 6, Issue 2, June 2026.
This study found that parent internalising symptoms predicted internalising symptoms in younger children, with no evidence of child‐driven effects. Among adolescents, mental health symptoms showed bidirectional associations with parent internalising symptoms, particularly for externalising symptoms.
Martha Oakes, Lowrie Hilladakis, Polly Waite, Cathy Creswell, Simona Skripkauskaite   +4 more
wiley   +1 more source

The Extracellular Matrix Across States: From Homeostasis to Dysfunction in Rare Connective Tissue Disorders

Proteoglycan Research, Volume 4, Issue 2, April 2026.
ABSTRACT The extracellular matrix (ECM) provides a dynamic environment in which the fine balance between biosynthesis, degradation and/or maturation of matrix components critically governs its structure and function. It is well established that the ECM plays a central role not only in the physiological functions of tissues, but also in the pathogenesis
Roméo M. Diana, Sandrine Gulberti, Catherine Bui   +2 more
wiley   +1 more source

Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family [PDF]

Journal of Pediatric Genetics, 2018
AbstractMultiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE.
Jhon, Camacho, Luz Dary, Gutierrez, Cladelis, Rubio, Alfonso, Suárez, Angie, Amaya   +4 more
openaire   +2 more sources