Results 31 to 40 of about 713 (172)

Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma

BioMed Research International, Volume 2021, Issue 1, 2021., 2021
Objectives. To discuss the mutational features and their relationships with disease in a family with hereditary multiple osteochondroma (HMO) from Guangxi Province (GXBB‐1 family), China. Methods. Genomic DNA and total mRNA were extracted from peripheral blood cells of GXBB‐1 family members.
Guangzhi Yuan, Qiang Su, Wenjun Liao, Wei Hou, Linke Huang, Peng Wang, Huayu Wu, Paul Harrison   +7 more
wiley   +1 more source

Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses

Molecular Genetics and Metabolism Reports, 2021
Summary: Background: Hereditary Multiple Exostoses (HME) is a rare autosomal disorder characterized by the presence of multiple exostoses (osteochondromas) caused by a heterozygous loss of function mutation in EXT1 or EXT2; genes involved in heparan ...
Jetta J. Oppelaar, Nienke M.G. Rorije, Rik H.G. Olde Engberink, Youssef Chahid, Naomi van Vlies, Hein J. Verberne, Bert-Jan H. van den Born, Liffert Vogt   +7 more
doaj   +1 more source

Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses. [PDF]

, 1990
Analysis of 330 exostoses in 18 patients affected by hereditary multiple exostoses disease suggested a new classification of exostoses as eccentric or full-thickness.
Beluffi G, Monafò V, Pazzaglia UE, Pedrotti L, Savasta S.   +4 more
core   +1 more source

Osteochondroma of the proximal humerus with frictional bursitis and secondary synovial osteochondromatosis [PDF]

, 2015
We report a case of multiple hereditary exostosis in a 33-year old patient with clinical symptoms of pain and impression of a growing mass of the left shoulder alerting potential risk of malignant transformation of an osteochondroma.
De Groote, J, Geerts, Bert, Mermuys, K, Verstraete, Koenraad   +3 more
core   +2 more sources

Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva. [PDF]

Orthop Surg
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease characterized by malformation of the bilateral great toes and progressive heterotopic ossification. Classical FOP always behaves as a bilateral deformity of the big toes, as well as progressive ectopic ossification and osteochondromas in the distal femur and proximal tibia.
Li L, Lu M, He X, Zou C, Zheng C, Wang Y, Tang F, Luo Y, Zhou Y, Min L, Tu C.   +10 more
europepmc   +2 more sources

Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses

Journal of the Formosan Medical Association, 2006
Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen, Chih-Hsien Chi, Chia-Chang Chuang, l-Ming Jou   +3 more
doaj   +1 more source

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family [PDF]

, 2010
Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos   +7 more
core   +1 more source

Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher. [PDF]

PLoS Genetics, 2008
Mutations in human Exostosin genes (EXTs) confer a disease called Hereditary Multiple Exostoses (HME) that affects 1 in 50,000 among the general population. Patients with HME have a short stature and develop osteochondromas during childhood. Here we show
Aurélie Clément, Malgorzata Wiweger, Sophia von der Hardt, Melissa A Rusch, Scott B Selleck, Chi-Bin Chien, Henry H Roehl   +6 more
doaj   +1 more source

A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis [PDF]

Perspectives In Medical Research
Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones.
Annu Nanda, Qury Sabita Mahapatra, Shalini Trivedi   +2 more
doaj   +1 more source

Investigating the role of heparin sulfate proteoglycans in hereditary multiple exostoses (HME) tumourigenesis

International Journal of Experimental Pathology, 2004
Introduction  Heparin sulfate (HS) has long been implicated in the bone deformity hereditary multiple exostoses (HME), and it is now clear that HME is associated with mutations in the HS biosynthetic genes EXT1 and EXT2. Interestingly, HME is also associated with an increased risk of chondro‐ and osteo‐sarcomas.Methods and results  Preliminary analysis
Scholefield, ZM, Hassell, JR, West, L, Govindraj, P, Hecht, JT, Rushton, G, Oldershaw, R, Hardingham, T, Merry, CLR, Gallagher, JT   +9 more
openaire   +3 more sources