ArticleInternational journal of clinical and experimental pathology2017
A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.
Article in International journal of clinical and experimental pathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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.
The trial behind it
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
3 citing papers in PubMed, 5 citations in OpenAlex.
- A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.JCI insight · 2022Article
- The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.Journal of clinical laboratory analysis · 2021Article
- Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.Frontiers in physiology · 2020Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDistal arthrogryposis (DA) is the most common congenital limb malformation secondary to the functional defects of joints and muscles. DA1 is one of the most commonly described forms of DA. The characteristics of DA1 include bilateral and symmetric clenched fist, overlapping fingers, camptodactyly, ulnar deviation of fingers, and positional foot deformities such as talipes equinovarus. Previous studies demonstrate that mutations of MATERIALS AND
methodsThe present study investigated 8 DA1 families/patients and 1 DA2B patient, determined sequences of
resultsWe identified a novel missense mutation of
conclusionThe mutation of
Indexed as
Identifiers
31966463PMC6965825W3027594965What OpenQuestion holds
Registered trials
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.