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The spectrum and prognosis of Sjögren's syndrome with membranous nephropathy. [PDF]

Clin Kidney J
Qiu DD, Li Z, Wang JJ, Chen DQ, Tu YM, Liang SS, Xu F, Liang DD, Zhang T, Cheng Z.   +9 more
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Obesity induced Ext1 reduction mediates the occurrence of NAFLD

Biochemical and Biophysical Research Communications, 2022
Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder with intricate etiology. It is closely associated with metabolic syndrome, insulin resistance and endoplasmic reticulum (ER) stress. Exostosin1 (Ext1) is an ER-resident transmembrane glycosyltransferase, which plays an important role in ER homeostasis.
Mengxiao, Wang, Bingbing, Li, Fujian, Qin, Junmei, Ye, Liang, Jin   +4 more
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Biosynthesis of heparan sulfate in EXT1 -deficient cells

Biochemical Journal, 2010
HS (heparan sulfate) is synthesized by HS co-polymerases encoded by the EXT1 and EXT2 genes (exostosin 1 and 2), which are known as causative genes for hereditary multiple exostoses, a dominantly inherited genetic disorder characterized by multiple cartilaginous tumours.
Megumi, Okada, Satomi, Nadanaka, Naoko, Shoji, Jun-Ichi, Tamura, Hiroshi, Kitagawa   +4 more
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Identification and functional characterization of the human EXT1 promoter region

Gene, 2012
Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO). This disease is mainly characterized by the appearance of multiple cartilage-capped protuberances arising from children's metaphyses and is known to display clinical inter- and intrafamilial variations. EXT1 and EXT2 are both tumor
Jennes, Ivy, Zuntini, Monia, Mees, Kirsten, Palagani, Ajay, Pedrini, Elena, De Cock, Greet, Fransen, Erik, Vanden Berghe, Wim, Sangiorgi, Luca, Wuyts, Wim   +9 more
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EXT1 regulates chondrocyte proliferation and differentiation during endochondral bone development

Bone, 2005
Multiple Hereditary Exostoses (MHE) is an autosomal dominant skeletal disorder most frequently caused by mutations in the EXT1 gene. MHE affects proper development of endochondral bones, such that all affected individuals present with exostoses adjacent to the growth plate of long bones, while some individuals exhibit additional bone deformities.
Matthew J, Hilton, Laura, Gutiérrez, Daniel A, Martinez, Dan E, Wells   +3 more
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Gene expression of EXT1 and EXT2 during mouse brain development

Developmental Brain Research, 2003
Heparan sulfate (HS) and heparan sulfate proteoglycans (HSPGs) play significant roles in various biological processes. There is a wealth of circumstantial and experimental evidence suggesting the roles of HS in mammalian neural development. HS synthesis is governed by a series of enzymes.
Masaru, Inatani, Yu, Yamaguchi
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cDNA cloning and distribution of XEXT1, the Xenopus homologue of EXT1

Development Genes and Evolution, 2002
Hereditary Multiple Exostosis (EXT) is an autosomal dominant disorder. Here, we have isolated XEXT1, a Xenopus homologue of EXT1, as an ovary-enriched cDNA clone. The 2,598-bp XEXT1 cDNA had a single open reading frame encoding 735 amino acids. Quantitative RT-PCR analysis showed that transcripts of XEXT1 were present maternally and consumed prior to ...
Tomohisa, Katada, Shunji, Oogami, Naoya, Shima, Tsutomu, Kinoshita   +3 more
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Identification of the Xenopus laevis cDNA for EXT1: A Phylogenetic Perspective

DNA Sequence, 2002
The EXT family of genes is involved in the developmentally important biosynthesis of heparan sulfate molecules. Members of the EXT family have a demonstrated role in gastrulation, wing formation in flies, and proper bone development in vertebrates. EXT family members have been isolated from several phylogenetically diverse species.
A L, Hill, N, Brown, M S, Hill, D E, Wells   +3 more
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Identification of novel mutations in the human EXT1 tumor suppressor gene

Human Genetics, 1997
Hereditary multiple exostoses (EXT) is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3, respectively. Recently, the EXT1 gene has been isolated and partially characterized and appears to encode a tumor suppressor gene.
D E, Wells, A, Hill, X, Lin, J, Ahn, N, Brown, M J, Wagner   +5 more
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