Results 151 to 159 of about 3,145 (159)

Multiple exostoses gene, EXT1 and heparan sulfate biosynthesis

2009
Hereditary multiple exostoses (HME), a dominantly inherited genetic disorder characterized by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 and EXT2. The corresponding gene products, exostosin-1 (EXT1) and exostosin-2 (EXT2) are type II transmembrane glycoproteins which form a Golgi-Iocalized hetero ...
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The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

Nature Genetics, 1998
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the formation of cartilage-capped tumours (exostoses) that develop from the growth plate of endochondral bone. This condition can lead to skeletal abnormalities, short stature and malignant transformation of exostoses to chondrosarcomas or osteosarcomas.
C, McCormick, Y, Leduc, D, Martindale, K, Mattison, L E, Esford, A P, Dyer, F, Tufaro   +6 more
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[Identification of mutations in the human EXT1 and EXT2 genes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 1999
To investigate further the genetic basis of hereditary multiple exostoses (EXT) and provide useful information for gene diagnosis of the disease.Polymerase chain reaction-single strand conformation polymorphism was used to examine the entire coding regions of EXT(1) gene on chromosome 8 and EXT(2) gene on chromosome 11 for mutation in thirty EXT ...
G, Song, J, Zhou, J, Xia, H, Deng, L, Xu, Q, Ruan   +5 more
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[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2014
To explore the disease associated gene mutation of multiple exostoses by family analysis.Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.We found a novel heterozygous mutation c.811T ->C in EXT1 gene ...
Wei, Li, Zheng-Mao, Hu, Zhi-Guo, Xie, Hong-Bo, He, Qian, Pan, Kun, Xia, Jia-Hui, Xia   +6 more
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A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses

Human Mutation, 2001
Y R, Shi, J Y, Wu, F J, Tsai, C C, Lee, C H, Tsai   +4 more
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Ext1 localement analytique et compatibilité local-global

American Journal of Mathematics, 2019
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THREE SIBLINGS WITH EXT1-CDG

2011
OKUR, ARZU, SARAÇ, AVNİ, WUYTS, WIM, HUL, ELS VAN, HASANOĞLU, ALEV, KASAPKARA, ÇİĞDEM SEHER, EZGÜ, FATİH SÜHEYL, OKUR, İLYAS, KÜÇÜKÇONGAR, AYNUR, TÜMER, LEYLA   +9 more
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Novel human pathological mutations. Gene symbol: EXT1. Disease: multiple exostoses.

Human genetics, 2011
Wei-De, Lin, Fuu-Jer, Tsai
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Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1.

Human genetics, 2008
Wei-De, Lin, Shuan-Pei, Lin, Chih-Ping, Chen, Fuu-Jen, Tsai   +3 more
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