Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Extremely low level of serum pigment epithelium-derived factor is a special biomarker of Chinese osteogenesis imperfecta patients with SERPINF1 mutations.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2018

Wang Jian-Yi, Li Lu-Jiao, Zhang Qian, Liu Yi, Lv Fang, Xu Xiao-Jie, Song Yu-Wen, Wang Ou, Jiang Yan, Xia Wei-Bo, Xing Xiao-Ping, Li Mei

Abstract excerpt

BACKGROUNDS: SERPINF1 mutations caused deficiency of pigment epithelium-derived factor (PEDF) and would lead to osteogenesis imperfecta (OI) type VI. However, serum PEDF levels were unclear in Chinese OI patients who had clear molecular diagnosis. OBJECTIVE: To assess PEDF levels in different genotypes of OI, to evaluate the influencing factors of PEDF in Chinese OI patients with clear molecular diagnosis....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Biomarkers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diphosphonates

Share to Eye Proteins

Share to Nerve Growth Factors

Share to Osteogenesis Imperfecta

Share to Serpins

Share to Young Adult

Source

Identifiers

PMID: 29104038
DOI: 10.1016/j.cca.2017.10.032

Genes

SERPINF1
IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extremely low level of serum pigment epithelium-derived factor is a special biomarker of Chinese osteogenesis imperfecta patients with SERPINF1 mutations.PMID 29104038Read ↗

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.Semantic proximity Read ↗

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.Semantic proximity Read ↗

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Semantic proximity Read ↗

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.Semantic proximity Read ↗

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.Semantic proximity Read ↗

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.Semantic proximity Read ↗

Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?Semantic proximity Read ↗

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring systemSemantic proximity Read ↗

Mutations in SERPINF1 cause osteogenesis imperfecta type VI.Semantic proximity Read ↗

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.Semantic proximity Read ↗

Lack of expression of <i>SERPINF1</i>, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagenSemantic proximity Read ↗

Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.