ArticleJournal of human genetics2016
Tibial hemimelia associated with GLI3 truncation.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report.BMC pediatrics · 2023Article
- Congenital Limb Deformities in a Neonatal Crossbred Pig.Case reports in veterinary medicine · 2022Article
- Article
- GLI3: a mediator of genetic diseases, development and cancer.Cell communication and signaling : CCS · 2020Review
- A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran.Journal of pediatric genetics · 2019Article
- Constant inhibition in congenital lower extremity shortening: does it begin in utero?Pediatric radiology · 2018Article
- Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology.Annals of the New York Academy of Sciences · 2017Review
- The two domain hypothesis of limb prepattern and its relevance to congenital limb anomalies.Wiley interdisciplinary reviews. Developmental biology · 2017Review
- Systematic radiographic evaluation of tibial hemimelia with orthopedic implications.Pediatric radiology · 2017Review
- Tibial hemimelia: new classification and reconstructive options.Journal of children's orthopaedics · 2016Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tibial hemimelia is a rare, debilitating and often sporadic congenital deficiency. In syndromic cases, mutations of a Sonic hedgehog (SHH) enhancer have been identified. Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. This deletion results in a truncated GLI3 protein that lacks a DNA-binding domain and cannot repress hedgehog signaling. These findings strengthen the concept that tibial hemimelia arises because of failure to restrict SHH activity to the posterior aspect of the limb bud.
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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.