-
1
-
-
0029090221
-
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
-
Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE. 1995. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 11:137-143.
-
(1995)
Nat Genet
, vol.11
, pp. 137-143
-
-
Ahn, J.1
Ludecke, H.J.2
Lindow, S.3
Horton, W.A.4
Lee, B.5
Wagner, M.J.6
Horsthemke, B.7
Wells, D.E.8
-
2
-
-
0029099356
-
Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1)
-
Bolton P, Powell J, Rutter M, Buckle V, Yates JR, Ishikawa-Brush Y, Monaco AP. 1995. Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1). Psychiatr Genet 5:51-55.
-
(1995)
Psychiatr Genet
, vol.5
, pp. 51-55
-
-
Bolton, P.1
Powell, J.2
Rutter, M.3
Buckle, V.4
Yates, J.R.5
Ishikawa-Brush, Y.6
Monaco, A.P.7
-
3
-
-
41549108480
-
Multiple osteochondromas
-
Bovee JV. 2008. Multiple osteochondromas. Orphanet J Rare Dis 3:3.
-
(2008)
Orphanet J Rare Dis
, vol.3
, pp. 3
-
-
Bovee, J.V.1
-
4
-
-
48249112602
-
Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher
-
Clement A, Wiweger M, von der Hardt S, Rusch MA, Selleck SB, Chien CB, Roehl HH. 2008. Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher. PLoS Genet 4:e1000136.
-
(2008)
PLoS Genet
, vol.4
-
-
Clement, A.1
Wiweger, M.2
Von Der Hardt, S.3
Rusch, M.A.4
Selleck, S.B.5
Chien, C.B.6
Roehl, H.H.7
-
6
-
-
0036509934
-
A mutant PTH/PTHrP type I receptor in enchondromatosis
-
Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, Alman BA. 2002. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 30:306-310.
-
(2002)
Nat Genet
, vol.30
, pp. 306-310
-
-
Hopyan, S.1
Gokgoz, N.2
Poon, R.3
Gensure, R.C.4
Yu, C.5
Cole, W.G.6
Bell, R.S.7
Juppner, H.8
Andrulis, I.L.9
Wunder, J.S.10
Alman, B.A.11
-
7
-
-
0030795260
-
Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene
-
DOI 10.1093/hmg/6.8.1241
-
Ishikawa-Brush Y, Powell JF, Bolton P, Miller AP, Francis F, Willard HF, Lehrach H, Monaco AP. 1997. Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene. Hum Mol Genet 6:1241-1250. (Pubitemid 27351063)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.8
, pp. 1241-1250
-
-
Ishikawa-Brush, Y.1
Powell, J.F.2
Bolton, P.3
Miller, A.P.4
Francis, F.5
Willard, H.F.6
Lehrach, H.7
Monaco, A.P.8
-
8
-
-
71749111001
-
Multiple osteochondromas: Mutation update and description of the multiple osteochondromas mutation database (MOdb)
-
Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W. 2009. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat 30:1620-1627.
-
(2009)
Hum Mutat
, vol.30
, pp. 1620-1627
-
-
Jennes, I.1
Pedrini, E.2
Zuntini, M.3
Mordenti, M.4
Balkassmi, S.5
Asteggiano, C.G.6
Casey, B.7
Bakker, B.8
Sangiorgi, L.9
Wuyts, W.10
-
9
-
-
76649129901
-
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes
-
Jones KB, Virginia Piombo V, Charles Searby C, Kurriger G, Yange B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffieldd VC. 2009. A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A 107:2054-2059.
-
(2009)
Proc Natl Acad Sci U S A
, vol.107
, pp. 2054-2059
-
-
Jones, K.B.1
Virginia Piombo, V.2
Charles Searby, C.3
Kurriger, G.4
Yange, B.5
Grabellus, F.6
Roughley, P.J.7
Morcuende, J.A.8
Buckwalter, J.A.9
Capecchi, M.R.10
Vortkamp, A.11
Sheffieldd, V.C.12
-
10
-
-
70649090107
-
The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling
-
Kaplan FS, Pignolo RJ, Shore EM. 2009. The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling. Cytokine Growth Factor Rev 20:399-407.
-
(2009)
Cytokine Growth Factor Rev
, vol.20
, pp. 399-407
-
-
Kaplan, F.S.1
Pignolo, R.J.2
Shore, E.M.3
-
11
-
-
34250838603
-
Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis
-
DOI 10.1242/dev.001586
-
Koyama E, Young B, Nagayama M, Shibukawa Y, Enomoto-Iwamoto M, Iwamoto M, Maeda Y, Lanske B, Song B, Serra R, Pacifici M. 2007. Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis. Development 134:2159-2169. (Pubitemid 46979802)
-
(2007)
Development
, vol.134
, Issue.11
, pp. 2159-2169
-
-
Koyoma, E.1
Young, B.2
Nagayama, M.3
Shibukawa, Y.4
Enomoto-Iwamoto, M.5
Iwamoto, M.6
Maeda, Y.7
Lanske, B.8
Song, B.9
Serra, R.10
Pacifici, M.11
-
12
-
-
2942538442
-
Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification
-
DOI 10.1016/j.devcel.2004.05.009, PII S1534580704001728
-
Koziel L, Kunath M, Kelly OG, Vortkamp A. 2004. Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification. Dev Cell 6:801-813. (Pubitemid 38745415)
-
(2004)
Developmental Cell
, vol.6
, Issue.6
, pp. 801-813
-
-
Koziel, L.1
Kunath, M.2
Kelly, O.G.3
Vortkamp, A.4
-
13
-
-
0036271629
-
Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1
-
DOI 10.1007/s100380200036
-
Li H, Yamagata T, Mori M, Momoi MY. 2002. Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. J Hum Genet 47:262-265. (Pubitemid 34601503)
-
(2002)
Journal of Human Genetics
, vol.47
, Issue.5
, pp. 262-265
-
-
Li, H.1
Yamagata, T.2
Mori, M.3
Momoi, M.Y.4
-
14
-
-
42049106810
-
Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib
-
DOI 10.1038/ncpgasthep1061, PII NCPGASTHEP1061
-
Liem YS, Bode L, Freeze HH, Leebeek FW, Zandbergen AA, Paul Wilson J. 2008. Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib. Nat Clin Pract Gastroenterol Hepatol 5:220-224. (Pubitemid 351516739)
-
(2008)
Nature Clinical Practice Gastroenterology and Hepatology
, vol.5
, Issue.4
, pp. 220-224
-
-
Liem, Y.S.1
Bode, L.2
Freeze, H.H.3
Leebeek, F.W.G.4
Zandbergen, A.A.M.5
Paul Wilson, J.H.6
-
15
-
-
12344310615
-
Functions of heparan sulfate proteoglycans in cell signaling during development
-
DOI 10.1242/dev.01522
-
Lin X. 2004. Functions of heparan sulfate proteoglycans in cell signaling during development. Development 131:6009-6021. (Pubitemid 40123916)
-
(2004)
Development
, vol.131
, Issue.24
, pp. 6009-6021
-
-
Lin, X.1
-
16
-
-
34548406937
-
Multiple exostosis: A short study of abnormalities near the growth plate
-
DOI 10.1097/BPB.0b013e32823ed01a, PII 0120241220070900000011
-
Mansoor A, Beals RK. 2007. Multiple exostosis: a short study of abnormalities near the growth plate. J Pediatr Orthop B 16:363-365. (Pubitemid 47357433)
-
(2007)
Journal of Pediatric Orthopaedics Part B
, vol.16
, Issue.5
, pp. 363-365
-
-
Mansoor, A.1
Beals, R.K.2
-
17
-
-
0031837107
-
The putative tumour suppressor EXT1 alters the expression of cell- Surface heparan sulfate
-
DOI 10.1038/514
-
McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F. 1998. The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet 19:158-161. (Pubitemid 28248797)
-
(1998)
Nature Genetics
, vol.19
, Issue.2
, pp. 158-161
-
-
McCormick, C.1
Leduc, Y.2
Martindale, D.3
Mattison, K.4
Esford, L.E.5
Dyer, A.P.6
Tufaro, F.7
-
18
-
-
0017076333
-
Multiple hereditary osteochondromata. Report of an early case
-
Ogden JA. 1976. Multiple hereditary osteochondromata. Report of an early case. Clin Orthop Relat Res:48-60.
-
(1976)
Clin Orthop Relat Res
, pp. 48-60
-
-
Ogden, J.A.1
-
19
-
-
71749083632
-
Mutation in the heparan sulfate biosynthesis enzyme EXT1 influences growth factor signaling and fibroblast interactions with the extracellular matrix
-
Osterholm C, Barczyk MM, Busse M, Gronning M, Reed RK, Kusche-Gullberg M. 2009. Mutation in the heparan sulfate biosynthesis enzyme EXT1 influences growth factor signaling and fibroblast interactions with the extracellular matrix. J Biol Chem 284:34935-34943.
-
(2009)
J Biol Chem
, vol.284
, pp. 34935-34943
-
-
Osterholm, C.1
Barczyk, M.M.2
Busse, M.3
Gronning, M.4
Reed, R.K.5
Kusche-Gullberg, M.6
-
20
-
-
0032981868
-
The neoplastic pathogenesis of solitary and multiple osteochondromas
-
Porter DE, Simpson AH. 1999. The neoplastic pathogenesis of solitary and multiple osteochondromas. J Pathol 188:119-125.
-
(1999)
J Pathol
, vol.188
, pp. 119-125
-
-
Porter, D.E.1
Simpson, A.H.2
-
21
-
-
73649115258
-
Heparan sulfate 2-O-sulfotransferase is required for triglyceride-rich lipoprotein clearance
-
Stanford KI, Wang L, Castagnola J, Song D, Bishop JR, Brown JR, Lawrence R, Bai X, Habuchi H, Tanaka M, Cardoso WV, Kimata K, Esko JD. 2010. Heparan sulfate 2-O-sulfotransferase is required for triglyceride-rich lipoprotein clearance. J Biol Chem 285:286-294.
-
(2010)
J Biol Chem
, vol.285
, pp. 286-294
-
-
Stanford, K.I.1
Wang, L.2
Castagnola, J.3
Song, D.4
Bishop, J.R.5
Brown, J.R.6
Lawrence, R.7
Bai, X.8
Habuchi, H.9
Tanaka, M.10
Cardoso, W.V.11
Kimata, K.12
Esko, J.D.13
-
22
-
-
0029764629
-
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
-
DOI 10.1038/ng0996-25
-
Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA. 1996. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 14:25-32. (Pubitemid 26301543)
-
(1996)
Nature Genetics
, vol.14
, Issue.1
, pp. 25-32
-
-
Stickens, D.1
Clines, G.2
Burbee, D.3
Ramos, P.4
Thomas, S.5
Hogue, D.6
Hecht, J.T.7
Lovett, M.8
Evans, G.A.9
-
23
-
-
10144253124
-
Positional cloning of a gene involved in hereditary multiple exostoses
-
Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. 1996. Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet 5:1547-1557. (Pubitemid 26328870)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.10
, pp. 1547-1557
-
-
Wuyts, W.1
Van Hul, W.2
Wauters, J.3
Nemtsova, M.4
Reyniers, E.5
Van Hul, E.6
De Boulle, K.7
De Vries, B.B.A.8
Hendrickx, J.9
Herrygers, I.10
Bossuyt, P.11
Balemans, W.12
Fransen, E.13
Vits, L.14
Coucke, P.15
Nowak, N.J.16
Shows, T.B.17
Mallet, L.18
Van Den Ouweland, A.M.W.19
McGaughran, J.20
Halley, D.J.J.21
Willems, P.J.22
more..
|