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Items: 1 to 20 of 110

1.

Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.

Cao LH, Wang LB, Wang SS, Ma HW, Ji CY, Luo Y.

Genet Mol Res. 2011 May 24;10(2):955-63. doi: 10.4238/vol10-2gmr1111.

2.

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.

Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT.

Am J Med Genet. 1998 Dec 28;80(5):510-3.

PMID:
9880218
3.

A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.

Shotelersuk V, Punyashthiti R.

Int J Mol Med. 2002 Jan;9(1):81-4.

PMID:
11745002
4.

Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues.

Hecht JT, Deere M, Putnam E, Cole W, Vertel B, Chen H, Lawler J.

Matrix Biol. 1998 Aug;17(4):269-78.

PMID:
9749943
5.

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.

Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al.

Nat Genet. 1995 Jul;10(3):330-6.

PMID:
7670472
6.

Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.

Hecht JT, Montufar-Solis D, Decker G, Lawler J, Daniels K, Duke PJ.

Matrix Biol. 1998 Dec;17(8-9):625-33.

PMID:
9923655
7.

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT.

Am J Med Genet. 1999 Aug 27;85(5):486-90.

PMID:
10405447
8.

Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia.

Nakayama H, Endo Y, Aota S, Sato M, Fujita T, Kikuchi S.

Oncol Rep. 2003 Jul-Aug;10(4):871-3.

PMID:
12792737
9.

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.

Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S.

Am J Med Genet. 2001 Nov 22;104(2):135-9.

PMID:
11746044
10.

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.

Hum Genet. 2003 Jan;112(1):84-90. Epub 2002 Oct 29.

PMID:
12483304
11.

Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.

Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegård D, Paulsson M, Maurer P.

J Biol Chem. 2001 Mar 2;276(9):6083-92. Epub 2000 Nov 17.

12.
13.

Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain.

Kleerekoper Q, Hecht JT, Putkey JA.

J Biol Chem. 2002 Mar 22;277(12):10581-9. Epub 2002 Jan 8.

14.

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.

Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, et al.

Nat Genet. 1995 Jul;10(3):325-9.

PMID:
7670471
15.
16.

Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate.

Hecht JT, Makitie O, Hayes E, Haynes R, Susic M, Montufar-Solis D, Duke PJ, Cole WG.

J Orthop Res. 2004 Jul;22(4):759-67.

17.

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH.

Am J Hum Genet. 1998 Feb;62(2):311-9.

18.

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.

Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y.

Hum Genet. 1998 Dec;103(6):633-8.

PMID:
9921895
20.

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.

Délot E, King LM, Briggs MD, Wilcox WR, Cohn DH.

Hum Mol Genet. 1999 Jan;8(1):123-8.

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