Results 51 to 60 of about 4,059 (184)

The role of the PTHrP/Ihh feedback loop in the unusual growth plate location in mammalian metatarsals and pisiforms

Developmental Dynamics, EarlyView.
Abstract Background Longitudinal skeletal growth takes place in the cartilaginous growth plates. While growth plates are found at either end of conventional long bones, they occur at a variety of locations in the mammalian skeleton. For example, the metacarpals and metatarsals (MT) in the hands and feet form only a single growth plate at one end, and ...
Philip L. Reno, Sherrie Wallace, Sarah N. Doelp, Maria Biancaniello, Kelsey M. Kjosness   +4 more
wiley   +1 more source

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

Developmental Dynamics, EarlyView.
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

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

Generation of an induced pluripotent stem cell line SMBCi010-A from a male with Multiple Osteochondroma carrying a EXT1 mutation

Stem Cell Research, 2021
Multiple Osteochondroma is an abnormal skeleton development autosomal dominant genetic disease which caused by the mutation of EXT1 gene. In this study, we generated induced pluripotent stem cells (iPSCs) from the mesenchymal stem cells (MSCs) of a 12 ...
Yazhou Cui, Jing Wang, Genglin Zhang, Jing Luan, Jinxiang Han   +4 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, EarlyView.
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

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

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 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

STC1‐Based Activation of NF‐κB Signaling Pathway Induces Epthithelial–Mesenchymal Transition Thus Promotes Progression and Temozolomide Resistance of Glioblastoma

The FASEB Journal, Volume 39, Issue 19, 15 October 2025.
Glioblastoma (GBM), a neuroepithelial‐derived lethal malignancy, remains incurable due to its intrinsic heterogeneity, necessitating molecular biomarkers for precision therapeutics. STC1 promotes GBM progression and temozolomide (TMZ) resistance by activating the NF‐κB signaling pathway, which drives epithelial–mesenchymal transition (EMT) and enhances
Jia Wang, Beichen Zhang, Haoyu Zhou, Bin Liu, Xiaobin Bai, Wei Wu, Ruichun Li, Wanfu Xie   +7 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