Results 61 to 70 of about 2,295 (157)

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

Do plantar calcaneal spurs make the plantar aponeurosis enthesis stronger? A biomechanical analysis

Journal of Anatomy, Volume 248, Issue 4, Page 591-597, April 2026.
Novel testing set up for determining enthesial avulsion parameters. Donor calcanei were dissected to isolate the central band of the plantar fascia, and mounted in a custom 3D‐printed rig (Fig A, B, C) for uniaxial tensile testing of the plantar fascia enthesis (Fig D). This study demonstrated no significant differences in the avulsion parameters, Fmax
Joanna Tomlinson, Kai Chun Li, Johann Zwirner   +2 more
wiley   +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

Secondary chondrosarcoma of the lumbar spine in hereditary multiple exostoses.

, 2013
We report a case of a 19-year-old woman with hereditary multiple exostoses, confirmed via EXT2 gene mutation, who presented to our clinic with a 4-month history of low back ...
BORIANI, STEFANO, DONATI, DAVIDE MARIA, Mesfin A, GHERMANDI, RICCARDO, CASTIELLO, EMANUELA   +4 more
core   +1 more source

Hereditary multiple exostoses: an educational review

Insights into Imaging
Hereditary multiple exostoses (HME), an autosomal dominant disorder with an incidence of 1:50,000 to 1:100,000, is characterised by the formation of multiple osteochondromas arising from the metaphyses of long and flat bones.
Alvaro Rueda-de-Eusebio, Sara Gomez-Pena, María José Moreno-Casado, Gloria Marquina, Juan Arrazola, Ana María Crespo-Rodríguez   +5 more
doaj   +1 more source

Solitary Metacarpal Osteochondroma; an Unusual Location

Medicine Science, 2014
Although, osteochondroma is the most common bone tumor, metacarpal involvement is quite uncommon and usually accompanies multiple hereditary exostoses.
Aziz Atik, Selahattin Ozyurek, Ozkan Kose, Kenan Koca, Ferhat Guler   +4 more
doaj   +1 more source

Skeletal Dysplasia During the Bronze Age in Northeast Thailand (3000–2500 BP)

International Journal of Osteoarchaeology, Volume 36, Issue 2, Page 318-324, March/April 2026.
ABSTRACT This study examines a case of skeletal dysplasia in an adult male (B290) from the Bronze Age at the site of Ban Non Wat, Northeast Thailand. Skeletal dysplasia, a group of genetic disorders affecting bone and cartilage growth, presents diagnostic challenges due to overlapping clinical features.
Nuttheera Kaoboriboon, Nancy Tayles, Sarah Agatha Villaluz, Pratiwi Yuwono, Kate Domett, Melandri Vlok   +5 more
wiley   +1 more source

Dental Stigmata and Skeletal Lesions of Congenital Treponematosis in Early Agricultural Vietnam (4000–3500 bp)

International Journal of Osteoarchaeology, Volume 36, Issue 2, Page 401-413, March/April 2026.
ABSTRACT Prior research has documented treponematosis at a single site in Mainland Southeast Asia from northern Vietnam dated to the early agricultural transition (~4000–3500 bp). To date, no other cases in Southeast Asia's prehistory have been identified.
Melandri Vlok, Tran Thi Minh, Nicola Czaplinski, Hallie Buckley, Kate Domett, Hiep Hoang Trinh, Nguyen Thi Mai Huong, Nghia Thi Huu, Do Thi Kim Dung, Nguyen Thi Sau, Nguyen Phuong Thao, Do Thi Lan, Phan Thi Kim An, Luong Hong Phuoc, Hirofumi Matsumura, Marc Oxenham   +15 more
wiley   +1 more source

A RARE CASE OF HEREDITARY MULTIPLE EXOSTOSES

, 2022
Background: A rare genetic condition, hereditary multiple exostoses (HME), follows the autosomal dominant pattern of inheritance. It is evident by multiple bony elevations on the appendicular skeleton by the age of 2 years.
SHETTY, APOORVA, PUNIA, VPS, JEYARAMAN, MADHAN, MITTAL, SHAAVI, CHAUDHARY, DUSHYANT, MISHRA, PRAVEEN RAMAN, BHARTI, AKASH   +6 more
core  

Golgi Apparatus‐Associated Secretome Deciphering in Living Cells Enabled by Aggregation‐Induced Emission Luminogen‐Mediated Photocatalytic Proximity Labeling

Aggregate, Volume 7, Issue 2, February 2026.
Golgi apparatus‐associated secretome is crucial for cell communications. This work introduces a novel application of aggregation‐induced emission luminogen for Golgi‐targeted labeling, and provides a robust chemical tool that enables proteome mapping within the Golgi lumen in situ with precise spatiotemporal control and high efficiency, achieving dual ...
He Wang, Yanli Guo, Zhen Liang, Wenwen Liu, Zijian Guo, Yukui Zhang, Yuncong Chen, Bo Jiang, Lihua Zhang   +8 more
wiley   +1 more source