Metatropic Dysplasia Latest Advances

Pathologies of the cervical spine in skeletal syndromes and dysplasias.

Journal: Orthopaedics & traumatology, surgery & research : OTSR

Published: September 21, 2025

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

Journal: International journal of molecular sciences

Published: September 12, 2025

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

Journal: Clinical genetics

Published: September 01, 2025

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review.

Journal: Medicine

Published: April 21, 2025

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading.

Journal: American journal of physiology. Cell physiology

Published: February 28, 2025

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Journal: Pediatric radiology

Published: August 01, 2024

TRPV4-mediated Ca2+ deregulation causes mitochondrial dysfunction via the AKT/α-synuclein pathway in dopaminergic neurons.

Journal: FASEB bioAdvances

Published: June 02, 2023

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.

Journal: JBMR plus

Published: March 30, 2023

Novel denovo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation.

Journal: Genes & diseases

Published: January 11, 2023

Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.

Journal: Malaysian orthopaedic journal

Published: August 09, 2021

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.

Journal: American journal of medical genetics. Part A

Published: December 11, 2020

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 20, 2020

Metatropic Dysplasia Latest Advances

Find the Latest Research About Metatropic Dysplasia

Pathologies of the cervical spine in skeletal syndromes and dysplasias.

Pathologies of the cervical spine in skeletal syndromes and dysplasias.

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

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.

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review.

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review.

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading.

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading.

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

TRPV4-mediated Ca2+ deregulation causes mitochondrial dysfunction via the AKT/α-synuclein pathway in dopaminergic neurons.

TRPV4-mediated Ca2+ deregulation causes mitochondrial dysfunction via the AKT/α-synuclein pathway in dopaminergic neurons.

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.

Novel denovo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation.

Novel denovo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation.

Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.

Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.