Results 61 to 70 of about 3,833 (199)

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

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

BMC Medical Genetics, 2011
Background Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an ...
Szuhai Karoly, Hogendoorn Pancras CW, Mees Kirsten, de Jong Danielle, Jennes Ivy, Wuyts Wim   +5 more
doaj   +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

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

Frontiers in Genetics, 2020
Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances.
Ye Wang, Liangying Zhong, Yan Xu, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Sacha Schutz, Claude Férec, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo   +13 more
doaj   +1 more source

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +1 more source

Presence of IDH2 and TP53 mutations significantly reduces survival of patients with chondrosarcoma

Cancer, Volume 132, Issue 7, 1 April 2026.
Abstract Background Chondrosarcoma (CS) has a prognosis largely influenced by tumor grade. Although IDH mutations have been reported in CS, impact on patient`s survival remains controversial. This study aims to assess prognostic relevance of IDH mutations on disease‐specific survival (DSS), metastasis‐free survival (MFS), and local recurrence‐free ...
Anne Weidlich, Klaus‐Dieter Schaser, Tareq A. Juratli, Jessica Pablik, Sven Märdian, Kathrin Hauptmann, Philipp Schwabe, Stephan Richter, Hagen Fritzsche   +8 more
wiley   +1 more source

Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization.

PLoS ONE, 2019
Glycosaminoglycans in the skin interstitium and endothelial surface layer have been shown to be involved in local sodium accumulation without commensurate water retention. Dysfunction of heparan sulfate glycosaminoglycans may therefore disrupt sodium and
Rik H G Olde Engberink, Judith de Vos, Angela van Weert, Yahua Zhang, Naomi van Vlies, Bert-Jan H van den Born, Jens M Titze, Ed van Bavel, Liffert Vogt   +8 more
doaj   +1 more source

Study of Drug Target Identification and Associated Molecular Mechanisms for the Therapeutic Activity and Hair Follicle Induction of Two Ashwagandha Extracts Having Differential Withanolide Constitutions

Journal of Nutrition and Metabolism, 2023
Background. Ashwagandha extracts play a significant role in traditional Indian medicine to help treat a wide range of disorders from amnesia, erectile dysfunction, neurodegenerative and cardiovascular diseases, cancer, stress, anxiety, and many more ...
Franco Cavaleri, Sukalpa Chattopadhyay, Vrushalee Palsule, Pradip Kumar Kar, Ritam Chatterjee   +4 more
doaj   +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

Altered skin GAG content and sulfation in Ext1^+/-Ext2^+/- mice.

, 2019
Results from HPLC-MS/MS measurements of skin heparan sulfate (A) and dermatan sulfate (B) content and sulfation in Ext1+/-Ext2+/- and control mice. (A) No difference in total skin heparan sulfate content was seen between Ext1+/-Ext2+/- mice and controls ...
Angela van Weert (633467), Ed van Bavel (7109552), Judith de Vos (633466), Jens M. Titze (7109549), Naomi van Vlies (800568), Yahua Zhang (7109546), Bert-Jan H. van den Born (213345), Rik H. G. Olde Engberink (7109543), Liffert Vogt (162013)   +8 more
core   +1 more source