Disease: Metaphyseal chondrodysplasia Schmid type
- A kindred of metaphyseal chondrodysplasia, Schmid type
- A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia
- A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia
- A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage
- A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid
- A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia
- A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency
- A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia
- A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia
- A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
- A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in <em>COL10A1</em>
- Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen
- Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus
- Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid
- Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic <em>COL10A1</em> variant
- Bone dysplasia with short limb
- Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene
- Carbon Dots as Potential Therapeutic Agents for Treating Non-Alcoholic Fatty Liver Disease and Associated Inflammatory Bone Loss
- Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene
- Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review
- Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia
- COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid
- Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells
- Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia
- Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen
- CT Scan Data Analysis in Malformations of Cortical Development
- Deletions in the COL10A1 gene are not associated with skeletal changes in dogs
- Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia
- Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains
- Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid
- Essential role for the alpha 1 chain of type VIII collagen in zebrafish notochord formation
- Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones
- Fourier transform infrared microspectroscopic analysis identifies alterations in mineral properties in bones from mice transgenic for type X collagen
- From collagen chemistry towards cell therapy - a personal journey
- Gene cloning to clinical trials-the trials and tribulations of a life with collagen
- Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia
- Hand involvement in Schmid metaphyseal chondrodysplasia
- Histological, biochemical, and MRI studies of the growth plate in congenital coxa vara
- Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response
- Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia
- Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method
- Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly
- Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data
- Identification of the putative collagen X gene from the pufferfish Fugu rubripes
- Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
- Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism
- Inhibiting the integrated stress response pathway prevents aberrant chondrocyte differentiation thereby alleviating chondrodysplasia
- Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer
- Label-Free Quantitative Proteomics Reveals Survival Mechanisms Developed by Hypertrophic Chondrocytes under ER Stress
- Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis
- Metaphyseal chondrodysplasia as differential diagnosis to rickets
- Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize
- Metaphyseal chondrodysplasia, Schmid type. A defect of ultrastructural metabolism: case report
- Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature
- Metaphyseal dysostosis type Schmid
- Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response
- Multilevel guided growth for hip and knee varus secondary to chondrodysplasia
- Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia
- Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias
- Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia
- Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia
- Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia
- Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
- Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia
- Paradoxical roles of ATF6α and ATF6β in modulating disease severity caused by mutations in collagen X
- Picture of the month. Metaphyseal chondrodysplasia, Schmid type
- Prediction of body height and shortening of the lower part of the body in adults with achondroplasia
- Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins
- RMRP mutations in cartilage-hair hypoplasia
- Schmid Metaphyseal Chondrodysplasia
- Schmid type metaphyseal chondrodysplasia
- Schmid type metaphyseal chondrodysplasia
- Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation
- Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type
- Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients
- Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation
- Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management
- Site-directed mutagenesis of human type X collagen. Expression of alpha1(X) NC1, NC2, and helical mutations in vitro and in transfected cells
- Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias
- Targeted induction of endoplasmic reticulum stress induces cartilage pathology
- The evolving therapeutic landscape of genetic skeletal disorders
- Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage
- Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy
- Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia
- XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease