Metatropic dwarfism

07/01/2014 - "To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of metatropic dysplasia, caused by a dominant mutation (I604M) in the calcium channel gene TRPV4. "
11/01/2011 - "Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy). "

07/01/2021 - "Impaired neurite development and mitochondrial dysfunction associated with calcium accumulation in dopaminergic neurons differentiated from the dental pulp stem cells of a patient with metatropic dysplasia."
05/01/2010 - "Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal. "
07/01/2017 - "Metatropic dysplasia is a rare osteochondrodysplasia due to mutations in the TRPV4 gene: TRPV4 is a cation channel, non-selectively permeable to calcium, encoded by a gene on chromosome 12q24.11; it is widely expressed and involved in many different physiological processes through responses to several different stimuli (physical, chemical, and hormonal) in ciliated epithelial cells. "
03/01/2009 - "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia."

05/01/2010 - "Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal. "
03/01/2009 - "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia."

10/01/2010 - "Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a spectrum of skeletal dysplasias that includes brachyolmia, spondylometaphyseal dysplasia, Kozlowski type (SMDK) and metatropic dysplasia (MD). "
07/01/2017 - "Metatropic dysplasia is a rare osteochondrodysplasia due to mutations in the TRPV4 gene: TRPV4 is a cation channel, non-selectively permeable to calcium, encoded by a gene on chromosome 12q24.11; it is widely expressed and involved in many different physiological processes through responses to several different stimuli (physical, chemical, and hormonal) in ciliated epithelial cells. "

06/01/2017 - "Medical charts of all patients with metatropic dysplasia were reviewed to collect data, including anesthetics performed, difficulties, and complications related to the anesthetic care, co-morbid conditions, and related events. "
06/01/2017 - "Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns."
02/01/2013 - "[Anesthetic management of a patient with metatropic dysplasia]."
06/01/2017 - "Twenty-three patients with metatropic dysplasia underwent 188 anesthetics with 61% of the anesthetics having been administered for orthopedic procedures. "
06/01/2017 - "Metatropic dysplasia is a rare form of skeletal dysplasia requiring multiple anesthetics for surgical and imaging procedures, most of which are orthopedic procedures. "

07/01/2017 - "We describe the first report of molecular diagnosis of metatropic dysplasia carried out in prenatal diagnosis: the molecular testing of the TRPV4 (transient receptor potential cation channel, subfamily V, member 4, MIM *605427) gene in our case, in fact, detected a causative variant, confirming the diagnostic suspicion, which was made possible thanks also to the utilization of MRI and CT scan. "

06/01/1976 - "The alpha chains and the major CNBr - derived peptides of collagen of growth cartilage were studied in the following syndromes: thanatophoric dwarfism, pseudothanatophoric dwarfism, achondroplasia, pseudoachondroplasia, diastrophic dwarfism, metatropic dwarfism, Kniest disease, parastremmatic dwarfism, multiple exostoses, Blount disease and pycnodysostosis. "

09/01/1989 - "As shown by disorders such as metatropic dysplasia or iduronidase deficiency, radiology is most important to evaluate the prognosis of a given condition."

12/01/2016 - "The data illustrate that high-throughput sequencing of genomic DNA can facilitate detection of mosaicism with higher sensitivity than Sanger sequence analysis and identify a new genetic mechanism for metatropic dysplasia. "

06/01/1976 - "The alpha chains and the major CNBr - derived peptides of collagen of growth cartilage were studied in the following syndromes: thanatophoric dwarfism, pseudothanatophoric dwarfism, achondroplasia, pseudoachondroplasia, diastrophic dwarfism, metatropic dwarfism, Kniest disease, parastremmatic dwarfism, multiple exostoses, Blount disease and pycnodysostosis. "

06/01/2017 - "Twenty-three patients with metatropic dysplasia underwent 188 anesthetics with 61% of the anesthetics having been administered for orthopedic procedures. "
06/01/2017 - "Metatropic dysplasia is a rare form of skeletal dysplasia requiring multiple anesthetics for surgical and imaging procedures, most of which are orthopedic procedures. "

05/01/2012 - "The paper presents a description of a 4-year-old boy with metatropic dysplasia treated by orthopaedic bracing and spinal cord decompression surgery at the C1-2 level. "