Sort   by:  
 Page size 
UnknownDiagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Not available
S-EPMC8182909 | biostudies-literature
TranscriptomicsNeurofibromin (Nf1) is required for skeletal muscle development
Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signalling. Besides neuroectodermal malformations and tumours, the skeletal system is often affected (e.g. scoliosis and long bone dy...
ORGANISM(S): Mus musculus 
2011-05-18 | E-GEOD-29343 | biostudies-arrayexpress
ProteomicsHeterozygous variants in MGP lead to endoplasmic reticulum stress causing spondyloepiphyseal dysplasia
Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues. It is a potent inhibitor of extracellular matrix mineralization. Biallelic loss of function variants in the MGP gene cause Keutel syndrome, an autosomal re...
ORGANISM(S): Mus musculus (Mouse) 
2024-01-26 | PXD043374 | Pride
Skeletal dysplasia Mgp Spondyloepiphyseal dysplasia 
TranscriptomicsEffects of a 8-week training on human skeletal muscle
Context: Exercise training is a plausible model for identification of molecular mechanisms that cause metabolic-related changes in human skeletal muscle. Objective: The goal was to explore the molecular basis of the adaptation of skeletal muscle to exercise training. Design and Intervention: Obes...
ORGANISM(S): Homo sapiens 
2012-12-10 | E-GEOD-40551 | biostudies-arrayexpress
UnknownBest practice guidelines for management of spinal disorders in skeletal dysplasia.
Not available
S-EPMC7313125 | biostudies-literature
UnknownA newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
Not available
S-EPMC4164294 | biostudies-literature
TranscriptomicsTranscription profiling of human chondrocytes isolated from normal cartilage or thanatophoric dysplasia affected cartilage
Endochondral ossification is the process by which the appendicular skeleton, facial bones, vertebrae and medial clavicles are formed and relies on the tight control of chondrocyte maturation. Fibroblast growth factor receptor (FGFR)3 plays a role in bone development and maintenance and belongs to a ...
ORGANISM(S): Homo sapiens 
2009-12-27 | E-MEXP-2276 | biostudies-arrayexpress
ProteomicsThe intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II
Heterozygous TRPV6 mutations, which reduce significantly the Ca2+-permeability of the channel, lead to chronic pancreatitis and, if both TRPV6-alleles are affected, to skeletal dysplasia with neonatal transient hyperparathyroidism (TNHP) of newborns. We show that TRPV6 channels are localized in intr...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD065752 | Pride
Transient receptor potential I-cell disease Trpv6 Mucolipidosis type ii Skeletal dysplasia Calcium channel Gnptab Chronic pancreatitis Mannose-6-phosphate 
ProteomicsThe intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II (data part II)
Heterozygous TRPV6 mutations, which reduce significantly the Ca2+-permeability of the channel, lead to chronic pancreatitis and, if both TRPV6-alleles are affected, to skeletal dysplasia with neonatal transient hyperparathyroidism (TNHP) of newborns. We show that TRPV6 channels are localized in intr...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD065789 | Pride
Transient receptor potential I-cell disease Trpv6 Mucolipidosis type ii Skeletal dysplasia Calcium channel Gnptab Chronic pancreatitis Mannose-6-phosphate 
GenomicsmiR-140 mutation and skeletal dysplasia [seCLIP]
miR-140 mutation and skeletal dysplasia [seCLIP]
PRJNA479007 | ENA
Sort   by:  
 Page size