Results 61 to 70 of about 16,338 (222)

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

An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

Human Genomics, 2020
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease affecting the central nervous system in young adults. Heparan sulfate proteoglycans (HSPGs) are ubiquitous to the cell surface and the extracellular matrix.
Rachel K. Okolicsanyi, Julia Bluhm, Cassandra Miller, Lyn R. Griffiths, Larisa M. Haupt   +4 more
doaj   +1 more source

Identification of the genes chemosensitizing hepatocellular carcinoma cells to interferon-α/5-fluorouracil and their clinical significance. [PDF]

PLoS ONE, 2013
The incidence of advanced hepatocellular carcinoma (HCC) is increasing worldwide, and its prognosis is extremely poor. Interferon-alpha (IFN-α)/5-fluorouracil (5-FU) therapy is reportedly effective in some HCC patients.
Tomohiko Sakabe, Hiroyuki Tsuchiya, Keita Kanki, Junya Azumi, Kazue Gonda, Yusuke Mizuta, Daisaku Yamada, Hiroshi Wada, Kohei Shomori, Hiroaki Nagano, Goshi Shiota   +10 more
doaj   +1 more source

Smoothness and Classicality on eigenvarieties

, 2015
Let p be a prime number and f an overconvergent p-adic automorphic form on a definite unitary group which is split at p. Assume that f is of "classical weight" and that its Galois representation is crystalline at places dividing p, then f is conjectured ...
Breuil, Christophe, Hellmann, Eugen, Schraen, Benjamin   +2 more
core   +3 more sources

Mapping quantitative trait loci underlying body weight changes that act at different times during high‐fat diet challenge in collaborative cross mice

Animal Models and Experimental Medicine, Volume 9, Issue 3, Page 621-629, March 2026.
Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.
Hanifa J. Abu‐Toamih Atamni, Iqbal M. Lone, Ilona Binenbaum, Kareem Midlej, Eleftherios Pilalis, Richard Mott, Aristotelis Chatziioannou, Fuad A. Iraqi   +7 more
wiley   +1 more source