ArticleNature genetics1993
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
Article in Nature genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 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
47 citing papers in PubMed, 228 citations in OpenAlex.
- Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.Translational psychiatry · 2025Article
- EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.eLife · 2025Article
- Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.PLoS biology · 2024Article
- Shared heritability of human face and brain shape.Nature genetics · 2021Article
- Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.Genes · 2020Article
- Model to Link Cell Shape and Polarity with Organogenesis.iScience · 2020Article
- A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.Molecular genetics & genomic medicine · 2019Article
- Single Cell and Single Nucleus RNA-Seq Reveal Cellular Heterogeneity and Homeostatic Regulatory Networks in Adult Mouse Stria Vascularis.Frontiers in molecular neuroscience · 2019Article
- Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis).PloS one · 2017Article
- Pax3 isoforms in sensory neurogenesis: expression and function in the ophthalmic trigeminal placode.Developmental dynamics : an official publication of the American Association of Anatomists · 2014Article
- PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.Molecular vision · 2010Article
- Synaptic homeostasis is consolidated by the cell fate gene gooseberry, a Drosophila pax3/7 homolog.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Distinct enhancers at the Pax3 locus can function redundantly to regulate neural tube and neural crest expressions.Developmental biology · 2010Article
- Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.European journal of human genetics : EJHG · 2009Article
- Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.Pigment cell & melanoma research · 2008Review
- Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.Human genetics · 2008Article
- Current perspectives on the genetic causes of neural tube defects.Neurogenetics · 2006Review
- Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function.Genes & development · 2004Article
- Divergent functions of murine Pax3 and Pax7 in limb muscle development.Genes & development · 2004Article
- Requirements for selective recruitment of Ets proteins and activation of mb-1/Ig-alpha gene transcription by Pax-5 (BSAP).Nucleic acids research · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Waardenburg syndrome (WS) is a combination of deafness and pigmentary disturbances, normally inherited as an autosomal dominant trait. The pathology involves neural crest derivatives, but WS is heterogeneous clinically and genetically. Some type I WS families show linkage with markers on distal 2q and in three cases the disease has been attributed to mutations in the PAX3 gene. PAX3 encodes a paired domain, a highly conserved octapeptide and probably also a paired-type homeodomain. Here we describe a further three PAX3 mutations which cause WS; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone. The latter occurs in a family with probable type 2 WS, a clinical variant usually considered not to be allelic with type 1 WS.
Indexed as
Identifiers
What 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.