Ask about this productRelated genes to: RSPRY1 Blocking Peptide
- Gene:
- RSPRY1 NIH gene
- Name:
- ring finger and SPRY domain containing 1
- Previous symbol:
- -
- Synonyms:
- KIAA1972
- Chromosome:
- 16q13
- Locus Type:
- gene with protein product
- Date approved:
- 2006-02-17
- Date modifiied:
- 2014-11-19
Related products to: RSPRY1 Blocking Peptide
Related articles to: RSPRY1 Blocking Peptide
- Endometriosis (EM) is a chronic disease severely impacting reproductive health, with its exact cause still unclear. In-depth understanding of the etiology and pathogenesis of EM from the perspective of genetics and exploring individualized treatment strategies can improve the health and quality of life of patients. - Source: PubMed
Publication date: 2025/02/20
Wang WenhuiZhu YingjiaCheng FengZhu LinlingYang XinyunHe MingjieWang Wenhui - Skeletal dysplasias, characterized by bone, cartilage, and connective tissue abnormalities, often arise due to disruptions in extracellular matrix (ECM) dynamics and growth factor-dependent signaling pathways. RSPRY1, a secreted protein with RING and SPRY domains, has been implicated in bone development, yet its exact role remains to be determined. gene mutations are associated with spondyloepimetaphyseal dysplasia (SEMD), a rare skeletal disorder characterized by severe epiphyseal and metaphyseal deformities. This study aimed to determine the molecular and cellular mechanisms by which RSPRY1 deficiency affects skeletal homeostasis. Transcriptome analysis of fibroblasts from patients with homozygous mutations showed there was significant enrichment of transforming growth factor beta (TGF-β) signaling and ECM-related pathways. Functional wound healing assays showed that knockout fibroblasts exhibited enhanced motility, a phenotype that was abrogated in + double knockout fibroblasts, highlighting the SMAD3-dependence of RSPRY1's effects. The observed limited response to exogenous TGF-β in RSPRY1-deficient cells indicated that there was constitutive pathway activation. These findings show that RSPRY1 is a critical regulator of TGF-β signaling in ECM dynamics and cell motility, contributing to the pathophysiology of SEMD. An improvement in our understanding of the molecular roles of RSPRY1 might yield novel therapeutic strategies that target TGF-β signaling in patients with SEMD and other skeletal dysplasias. - Source: PubMed
Publication date: 2025/01/28
Imren GozdeKaraosmanoglu BerenMuratoglu BihterOzdemir CansuUtine Gulen EdaSimsek-Kiper Pelin OzlemTaskiran Ekim Z - Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier. We achieved a clinical-molecular diagnosis in 145 families by targeted analysis in 37 and next generation sequencing (exomes and genomes) in 108 families that resulted in a diagnostic yield of 73.6% (145 of 197 families). We identified 149 causal variants, of which 85 were novel, across 73 genes. Eighty-one distinct monogenic forms of skeletal dysplasia were observed with a high proportion of autosomal recessive skeletal dysplasias (60%, 84 families). We observed consanguinity in 35% of the families. Lysosomal storage diseases with skeletal involvement, FGFR3-related skeletal dysplasia and disorders of bone mineralisation were most frequent in this cohort. We expand the phenotypic and genotypic spectrum of rarely reported conditions (RAB33B, TRIP11, NEPRO, RPL13, COL27A1, PTHR1, EXOC6B, PRKACA, FUZ and RSPRY1) and noted novel gene-disease relationships for PISD, BNIP1, TONSL, CCN2 and SCUBE3 related skeletal dysplasia. We successfully implemented genomic testing for skeletal dysplasia in clinical and research settings. Our study provides valuable information on the spectrum of skeletal dysplasia and disease-causing variants for Asian Indians. - Source: PubMed
Publication date: 2024/12/20
Jacob PrinceSingh SwatiBhavani Gandham SriLakshmiGowrishankar KalpanaNarayanan Dhanya LakshmiNampoothiri SheelaPatil S JSoni J PMuranjan MamtaKapoor SeemaDhingra BhavnaBhat Ballambattu VishnuBajaj ShrutiBanerjee AmritaMamadapur MahabaleshwarHariharan Sankar VKamath NutanShenoy Rathika DSuri DeeptiShukla AnjuDalal AshwinPhadke Shubha RNishimura GenMortier GeertShah HiteshGirisha Katta M - Biallelic variants in RSPRY1 have been found to result in spondyloepimetaphyseal dysplasia. Two siblings presenting with short stature, facial dysmorphism, progressive vertebral defects, small epiphysis, cupping and fraying of metaphyses, brachydactyly, and short metatarsals harbored a homozygous missense variant c.1652G>A;p.(Cys551Tyr) in the RSPRY1 gene. The phenotype in our patients resembles spondyloepimetaphyseal dysplasia, Faden-Alkuraya type. Thus, our study provides further evidence to support the association of RSPRY1 variants with spondyloepimetaphyseal dysplasia. We observed joint dislocation as a novel clinical feature of this condition. - Source: PubMed
Publication date: 2024/04/02
Singh SwatiShah HiteshDalal AshwinShukla AnjuBhavani Gandham SriLakshmiGirisha Katta M - A variety of novel drugs and advanced therapeutic strategies have been developed for diabetic foot ulcers (DFUs); however, the clinical outcomes are unsatisfactory and the underlying mechanisms of DFU remain elusive. MicroRNAs (miRNA) regulate the pathological processes of many diseases. Fibroblasts are involved in each stage of wound healing, and the functions of fibroblasts may be regulated by miRNAs. In the present study, we found that the levels of miRNA-21-3p (miR-21-3p) were decreased in patients with diabetes as compared with those in the healthy control. Similarly, the level of miRNA-21-3p was decreased in fibroblasts that were stimulated with D-glucose as compared with that in the control fibroblasts. Furthermore, enhanced function was found in fibroblasts followed by the miR-21-3p agonist treatment, and a rapid wound healing process was achieved in the miR-21-3p agonist-treated mice. MiR-21-3p directly targeted protein sprout homolog 1 (SPRY1), and the miR-21-3p-regulated reduction in SPRY1 enhanced the function of fibroblasts and accelerated wound healing . These findings suggest that miR-21-3p may treat DFU by reducing SPRY1. - Source: PubMed
Publication date: 2020/07/07
Wu YaohongZhang KunLiu RongZhang HexingChen DongYu ShuangqiChen WeiWan SongZhang YiJia ZhiweiChen RongchunDing Fan