Spondyloepimetaphyseal Dysplasia Strudwick Type Latest Advances

Find the Latest Research About Spondyloepimetaphyseal Dysplasia Strudwick Type

Last Updated: 09/26/2026

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Found 228 publications

Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF).

Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF).

Journal: European journal of medical genetics

Published: May 19, 2026

A pcyt-1 Allelic Series Reveals In Vivo Consequences of Reduced Phosphatidylcholine Synthesis in C. elegans.

A pcyt-1 Allelic Series Reveals In Vivo Consequences of Reduced Phosphatidylcholine Synthesis in C. elegans.

Journal: bioRxiv : the preprint server for biology

Published: May 04, 2026

A truncated COL10A1 protein causes Schmid metaphyseal chondrodysplasia via protein downregulation and impairing α1 trimer formation and secretion.

A truncated COL10A1 protein causes Schmid metaphyseal chondrodysplasia via protein downregulation and impairing α1 trimer formation and secretion.

Journal: Functional & integrative genomics

Published: March 06, 2026

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Journal: Genes

Published: March 02, 2026

A novel mutation in FN1 causing spondylometaphyseal dysplasia corner fracture type in a multigenerational family.

A novel mutation in FN1 causing spondylometaphyseal dysplasia corner fracture type in a multigenerational family.

Journal: JCEM case reports

Published: January 29, 2026

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Journal: Human molecular genetics

Published: January 20, 2026

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.

Journal: Frontiers in immunology

Published: January 15, 2026

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Journal: Calcified tissue international

Published: October 06, 2025

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.

Journal: Clinical genetics

Published: September 01, 2025

Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.

Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.

Journal: ACS chemical biology

Published: May 06, 2025

A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism.

A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism.

Journal: Orphanet journal of rare diseases

Published: April 14, 2025

The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.

The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.

Journal: Human molecular genetics

Published: March 22, 2025

Showing 1-12 of 228

Last Updated: 09/26/2026