ArticleHuman molecular genetics2018
PITX2 deficiency and associated human disease: insights from the zebrafish model.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 58 citations in OpenAlex.
- In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.Biochemical genetics · 2025Article
- Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish.Nature communications · 2024Article
- In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.Investigative ophthalmology & visual science · 2024Article
- Exploring the association between PITX2, third molars agenesis and sella turcica morphology : PITX2, third molars agenesis and sella turcica morphology.Head & face medicine · 2024Article
- Human archetypal pluripotent stem cells differentiate into trophoblast stem cells via endogenous BMP5/7 induction without transitioning through naive state.Scientific reports · 2024Article
- Article
- Article
- Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2023Review
- Loss of WNT4 in the gubernaculum causes unilateral cryptorchidism and fertility defects.Development (Cambridge, England) · 2022Article
- Zebrafish models of alx-linked frontonasal dysplasia reveal a role for Alx1 and Alx3 in the anterior segment and vasculature of the developing eye.Biology open · 2022Article
- Early-Onset Glaucoma inBiomedicines · 2022Article
- Mechanistic Insights into Axenfeld-Rieger Syndrome from ZebrafishInternational journal of molecular sciences · 2021Review
- Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Zebrafish Model in Ophthalmology to Study Disease Mechanism and Drug Discovery.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Complementary and divergent functions of zebrafish Tango1 and Ctage5 in tissue development and homeostasis.Molecular biology of the cell · 2021Article
- Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.Frontiers in genetics · 2021Article
- RNA Biological Characteristics at the Peak of Cell Death in Different Hereditary Retinal Degeneration Mutants.Frontiers in genetics · 2021Article
- Regulatory Role of Retinoic Acid in Male Pregnancy of the Seahorse.Innovation (Cambridge (Mass.)) · 2020Article
- Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.Journal of developmental biology · 2020Review
- CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.Human genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1, an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in addition to this, one report implicated PITX2 in ring dermoid of the cornea and a few others described cardiac phenotypes. We report three novel PITX2 mutations-c.271C > T, p.(Arg91Trp); c.259T > C, p.(Phe87Leu); and c.356delA, p.(Gln119Argfs*36)-identified in independent families with typical Axenfeld-Rieger syndrome characteristics and some unusual features such as corneal guttata, Wolf-Parkinson-White syndrome, and hyperextensibility. To gain further insight into the diverse roles of PITX2/pitx2 in vertebrate development, we generated various genetic lesions in the pitx2 gene via TALEN-mediated genome editing. Affected homozygous zebrafish demonstrated congenital defects consistent with the range of PITX2-associated human phenotypes: abnormal development of the cornea, iris and iridocorneal angle; corneal dermoids; and craniofacial dysmorphism. In addition, via comparison of pitx2M64* and wild-type embryonic ocular transcriptomes we defined molecular changes associated with pitx2 deficiency, thereby implicating processes potentially underlying disease pathology. This analysis identified numerous affected factors including several members of the Wnt pathway and collagen types I and V gene families. These data further support the link between PITX2 and the WNT pathway and suggest a new role in regulation of collagen gene expression during development.
Indexed as
Identifiers
What Socratic 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 Socratic graph.