Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).

Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).

Dades bibliogràfiques
Autors principals:	Kennedy, A, Christi, P, Harding, B, Pannett, A, Dearlove, A, Whyte, M, Thakker, R
Format:	Conference item
Publicat:	2002

Ítems similars

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
per: Kennedy, A, et al.
Publicat: (2005)

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
per: Gertner, J, et al.
Publicat: (1997)

Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
per: Alice Costantini, et al.
Publicat: (2020-10-01)

LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
per: Gertner, J, et al.
Publicat: (1995)

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
per: Prince Jacob, et al.
Publicat: (2023-11-01)

Genetic mapping studies of familial benign hypercalcemia type 3 (FBH3) on chromosome 19q13.
per: Cianferotti, L, et al.
Publicat: (1999)

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
per: Lloyd, SE, et al.
Publicat: (1999)

IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
per: Pauline De Kinderen, et al.
Publicat: (2023-03-01)

Diagnostic Value of Serum and Saliva Matrix Metalloproteinase13 (MMP13) in Oral Squamous Cell Carcinoma
per: T Ghanbarnia, et al.
Publicat: (2020-03-01)

Matrix metalloproteinases (MMP-1, -8, -13) in chronic periapical lesions
per: Andonovska Biljana, et al.
Publicat: (2008-01-01)

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco
per: Larissa Mattern, et al.
Publicat: (2023-06-01)

Tumor-derived matrix metalloproteinase-13 (MMP-13) correlates with poor prognosis of invasive breast cancer
per: Ning Liansheng, et al.
Publicat: (2008-03-01)

Familial benign hypercalcaemia, Oklahoma variant (FBHok): Localisation to chromosome 19q13.
per: Lloyd, SE, et al.
Publicat: (1997)

Matrix metalloproteinase 13 (MMP13) is a direct target of osteoblast-specific transcription factor osterix (Osx) in osteoblasts.
per: Chi Zhang, et al.
Publicat: (2012-01-01)

A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass
per: Shanshan Li, et al.
Publicat: (2024-10-01)

Development of a Non-Hydroxamate Dual Matrix Metalloproteinase (MMP)-7/-13 Inhibitor
per: Thomas Fischer, et al.
Publicat: (2017-09-01)

Correction: Matrix Metalloproteinase 13 (MMP13) Is a Direct Target of Osteoblast-Specific Transcription Factor Osterix (Osx) in Osteoblasts
Publicat: (2013-01-01)

Correction: Matrix Metalloproteinase 13 (MMP13) Is a Direct Target of Osteoblast-Specific Transcription Factor Osterix (Osx) in Osteoblasts.
per: Chi Zhang, et al.
Publicat: (2013-01-01)

The Role of Matrix Metalloproteinase-13 (MMP13) in TGFβ/BMP Pathway Regulation of Fibro-Adipogenic Progenitor (FAP) Differentiation
per: Mengyao Liu, et al.
Publicat: (2022-12-01)

Erratum to: Cancer progression by breast tumors with Pit-1-overexpression is blocked by inhibition of metalloproteinase (MMP)-13
per: Juan Sendon-Lago, et al.
Publicat: (2017-03-01)

New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report
per: Shu Han, et al.
Publicat: (2022-12-01)

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature
per: Hoda A. Ahmed, et al.
Publicat: (2024-03-01)

Floods in Kansaa City, Missouri and Kansas, September 12-13, 1977/
per: 350369 Hauth, Leland D., et al.
Publicat: (1981)

P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
per: Makenzie Fulmer, et al.
Publicat: (2023-01-01)

Human Host Defense Peptide LL-37 Suppresses TNFα-Mediated Matrix Metalloproteinases MMP9 and MMP13 in Human Bronchial Epithelial Cells
per: Anthony Altieri, et al.
Publicat: (2024-03-01)

A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
per: Mumm, S, et al.
Publicat: (2000)

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
per: Mumm, S, et al.
Publicat: (2000)

Indole Inhibitors of MMP-13 for Arthritic Disorders
per: Steven J. Taylor, et al.
Publicat: (2021-07-01)

Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report
per: Jeong A Ham, et al.
Publicat: (2023-10-01)

The potential contributions of matrix metalloproteinase 8,9 and 13 (MMP-8,9,13) to cerebral vasospasm and the role of doxycycline inhibitors on gene expression after experimental subarachnoid haemorrhage
per: Yasin Göktürk, et al.
Publicat: (2024-10-01)

An improved collagen zymography approach for evaluating the collagenases MMP-1, MMP-8, and MMP-13
per: Seniz Inanc, et al.
Publicat: (2017-10-01)

The Significance of Matrix Metalloproteinase 9 (MMP-9) and Metalloproteinase 2 (MMP-2) in Urinary Bladder Cancer
per: Jacek Kudelski, et al.
Publicat: (2023-03-01)

Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: identification of MMP16 as a new player in lung development.
per: Alice Hadchouel, et al.
Publicat: (2008-01-01)

2.23 Hydrofoils and Propellers (13.04), Fall 2003
per: Sclavounos, Paul D., et al.
Publicat: (2003)

Effect of Progesterone on Expression of MMP7 and MMP13 in Lungs of Female Mice
per: Elahe Izadi, et al.
Publicat: (2018-10-01)

Histogenesis of retinal dysplasia in trisomy 13
per: Gonzalez-Fernandez Federico, et al.
Publicat: (2007-12-01)

Quantification of matrix metalloproteinases MMP-8 and MMP-9 in gingival overgrowth
per: Jennifer Orozco-Páez, et al.
Publicat: (2021-07-01)

Missouri Mathematics Project (MMP), Pemahaman Konsep Matematika, dan Kepercayaan Diri Siswa
per: Ni Pande Kadek Ayu Pratiwi, et al.
Publicat: (2019-07-01)

PENGARUH PEMBELAJARAN MISSOURI MATHEMATICS PROJECT (MMP) TERHADAP KEMAMPUAN PEMECAHAN MASALAH MATEMATIKA
per: Rahmiati Rahmiati, et al.
Publicat: (2016-06-01)

Interleukin 13 (IL-13)-regulated expression of the chondroprotective metalloproteinase ADAM15 is reduced in aging cartilage
per: C.Y. Yang, et al.
Publicat: (2020-12-01)