ArticleBMC developmental biology2008
PITX2 gain-of-function induced defects in mouse forelimb development.
Article in BMC developmental biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 31 citations in OpenAlex.
- Lgr6-expressing functional nail stem-like cells differentiated from human-induced pluripotent stem cells.PloS one · 2024Article
- Bone morphology is regulated modularly by global and regional genetic programs.Development (Cambridge, England) · 2019Article
- FACS-Seq analysis of Pax3-derived cells identifies non-myogenic lineages in the embryonic forelimb.Scientific reports · 2018Article
- Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.The Journal of biological chemistry · 2015Article
- PITX2 and non-canonical Wnt pathway interaction in metastatic prostate cancer.Clinical & experimental metastasis · 2014Article
- Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.Investigative ophthalmology & visual science · 2011Article
- Digital gene expression tag profiling of bat digits provides robust candidates contributing to wing formation.BMC genomics · 2010Article
- An altered phenotype in a conditional knockout of Pitx2 in extraocular muscle.Investigative ophthalmology & visual science · 2009Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLimb development and patterning originate from a complex interplay between the skeletal elements, tendons, and muscles of the limb. One of the genes involved in patterning of limb muscles is the homeobox transcription factor Pitx2 but its role in forelimb development is uncharacterized. Pitx2 is expressed in the majority of premature presumptive forelimb musculature at embryonic day 12.5 and then maintained throughout embryogenesis to adult skeletal muscle.
resultsTo further study the role of Pitx2 in forelimb development we have generated transgenic mice that exhibit a pulse of PITX2 over-expression at embryonic day 13.5 and 14.5 in the developing forelimb mesenchyme. These mice exhibit a distal misplacement of the biceps brachii insertion during embryogenesis, which twists the forelimb musculature resulting in severe skeletal malformations. The skeletal malformations have some similarities to the forearm deformities present in Leri-Weill dyschondrosteosis.
conclusionTaken together, the tendon, muscle, and bone anomalies further support a role of Pitx2 in forelimb development and may also shed light on the interaction between the skeletal elements and muscles of the limb during embryogenesis.
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