Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1293142 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Disproportionate short stature refers to a heterogeneous group of hereditary disorders, which are classified according to their mode of inheritance, their clinical skeletal and non-skeletal manifestations, and their radiological characteristics. In the present study, we report on a novel autosomal recessive osteocutaneous disorder that we termed short stature-onychodysplasia-facial dysmorphism-hypotrichosis (SOFT) syndrome. we identified a homozygous point mutation (p.L171P) in POC1A (Centriolar Protein Homolog A). The mutation affects a highly conserved amino acid residue and is predicted to interfere with protein function. To gain insight into the pathomechanisms underlying the deleterious effect of the causative mutation, we compared transcription profiles of patient and control fibroblasts.
2012-08-22 | E-MEXP-3650 | biostudies-arrayexpress
Project description:Case series of children and adolescents undergoing growth hormone stimulation testing for investigation of short stature. The aim of this study was to identify whether a machine learning approach utilising gene expression data could predict which short children would test positive for GHD and which would not.
2021-12-15 | GSE190502 | GEO
Project description:Werner Syndrome (WS) is an autosomal recessive disorder characterized by premature aging due to mutations of the WRN gene. A classical sign in WS patients is short stature, but the underlying mechanisms are not well understood. Here we report that WRN is indispensable for chondrogenesis, which is the engine driving the elongation of bones and determines height.
2022-07-28 | GSE206210 | GEO
Project description:Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, characteristic facies (hypertelorism, downward-slanting palpebral fissures), congenital heart defects (e.g., pulmonary stenosis, hypertrophic cardiomyopathy), and developmental delays. Approximately 50% of NS cases are caused by heterozygous mutations in PTPN11 encoding Src homology 2 domain-containing phosphatase 2 (SHP-2).The pathogenesis of the disease involves the phosphorylation of several proteins. In a Han Chinese NS pedigree exhibiting characteristic facies and growth retardation, whole-exome sequencing identified a heterozygous PTPN11 mutation (NM_001330437.2: c.923A>G, p.Asn308Ser) in seven affected individuals, demonstrating complete co-segregation.Structural modeling demonstrated that this mutation disrupts hydrogen bonding within the PTP domain, triggering conformational changes that destabilize SHP-2 autoinhibition. Phosphoproteomics showed that the phosphorylation level was significantly up-regulated after the mutation, and the differentially phosphorylated sites were mainly involved in multiple cross-talking pathways, which synergistically affected the activity of multiple signaling pathways, leading to the abnormalities of the broader signaling network. Functional validation in HEK293T cells confirmed RAS-MAPK pathway hyperactivation. The present study demonstrated that the PTPN11 c.923A>G (p.Asn308Ser) mutation is the responsible causative mutation in this NS family line with characteristic facies and short stature phenotype, mechanistically linking structural domain perturbations and multi-pathway phosphorylation imbalances.
2025-09-10 | PXD068242 |
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA