Results 71 to 80 of about 16,338 (222)

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

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates

International Dental Journal
Summary: Objectives: The exostosins (EXT), which are responsible for heparan sulfate backbone synthesis and play a vital role in tissue homeostasis, have been reported to be correlated with prognosis of various cancers.
Yiping Wang, Yan Huang, Houwei Zhu, Zhenzhen Guo, Jun Cheng, Churen Zhang, Ming Zhong   +6 more
doaj   +1 more source

The Tap‐to‐Safety Task: A Novel fMRI Paradigm Assessing Repetitive Threat‐Neutralization

Human Brain Mapping, Volume 47, Issue 3, 15 February 2026.
In this study, we present a novel task to model repetitive threat‐neutralization behavior during neuroimaging. Results suggest that the dorsal anterior cingulate cortex (dACC), anterior insula, and dorsal striatum interact to drive neutralization behavior in the face of perceived threats.
Hannah Berg, Riley Rozniarek, Aardron Robinson, Rayus Kuplicki, Annette Rostel, Nate Mungunkhet, Ryan Smith, H. Blair Simpson, Martin P. Paulus, Robin L. Aupperle   +9 more
wiley   +1 more source

Histopathological features of condylar hyperplasia and condylar Osteochondroma: a comparison study

Orphanet Journal of Rare Diseases, 2019
Background Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different biological behavior.
Jingshuang Yu, Tong Yang, Jiewen Dai, Xudong Wang   +3 more
doaj   +1 more source

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

PLoS ONE, 2014
BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME ...
Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen   +8 more
doaj   +1 more source

Hepatic heparan sulfate is a master regulator of hepcidin expression and iron homeostasis in human hepatocytes and mice. [PDF]

, 2019
Hepcidin is a liver-derived peptide hormone that controls systemic iron homeostasis. Its expression is regulated by the bone morphogenetic protein 6 (BMP6)/SMAD1/5/8 pathway and by the proinflammatory cytokine interleukin 6 (IL6).
Anower-E-Khuda, Ferdous, Arosio, Paolo, Asperti, Michela, Denardo, Andrea, Esko, Jeffrey D, Gordts, Philip LSM, Gryzik, Magdalena, Poli, Maura, Ruzzenenti, Paola   +8 more
core  

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

Higgs bundles on weighted projective lines and loop crystals [PDF]

, 2015
We consider the space of nilpotent Higgs bundles on a weighted projective line, as a global analog of the nilpotent cone. We show that it is pure, compute its dimension, and define geometric correspondences between irreducible components.
Pouchin, Guillaume
core  

Integrative cross‐tissue and spatially resolved single‐cell profiling uncovers tumour‐educated inflammatory remodelling of tissue‐resident macrophage ecosystem with immunotherapeutic prognostic significance in pan‐cancer

Clinical and Translational Medicine, Volume 16, Issue 2, February 2026.
Pan‐cancer analysis reveals an inflammatory phenotype remodeling of tissue‐resident macrophages (iTRM) in the tumor microenvironment, which is associated with immunosuppression. Tissue‐resident macrophages and monocyte‐derived macrophages exhibit convergent differentiation toward a similar inflammatory phenotype. iTRM‐enriched ecosystems are associated
Weikai Wang, Zibin Chen, Yuhan Huang, Zhihao Hu, Peixin Zhu, Zhuoli Huang, Jingzhi Lv, Ziru Liao, Yuhui Zheng, Chen Wei, Baibing Guan, Yin Zeng, Xinyue Zhu, Yafei Yang, Guibo Li, Xin Jin, Xi Chen, Xiao Yang, Zikun Ma, Jianhua Yin   +19 more
wiley   +1 more source