ReviewEuropean spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society2016
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Review in European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.World journal of orthopedics · 2023Article
- Short-Term Functional Outcomes of Short Femoral Neck Stems Are the Same as Those of Conventional Stems in Primary Total Hip Arthroplasty.International journal of environmental research and public health · 2022Article
- Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.BMC medical genomics · 2021Article
- Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Molecular genetics & genomic medicine · 2020Article
- Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients withInternational journal of biological sciences · 2020Article
- A novelHuman genome variation · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through assessment of the literature.
methodsMedical history, physical examination, radiographic and laboratory tests were obtained from three Chinese clinically diagnosed SEDC patients. PCR technique and direct nucleotide sequencing were conducted to identify mutations in the COL2A1 gene. The protein functions of all the missense mutations were predicted by SIFT and Polyphen-2. Contrast analysis of Chinese SEDC cases were performed through the literature retrieval of the HGMD BIOBASE and PubMed database.
resultsThree novel heterozygous missense mutations (Gly537Asp, Gly909Ser, and Gly1149Val) in the COL2A1 gene were detected in this study. Literature review discovered a total of 15 COL2A1 mutations in Chinese SEDC patients. We analyzed the clinical features, mutation characteristics and explored the genotype-phenotype correlation of these Chinese SEDC cases.
conclusionsOur study contributed to the further expansion of the COL2A1 mutation spectrum and provided more information concerning SEDC in the Chinese population through literature review.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.