Research map: Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants

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  1. Accurate structure prediction of biomolecular interactions with AlphaFold 3 · Josh Abramson · 2024 · 16046 citations · Cited by this paper
  2. The orofacial cleft risk gene IRF6 is a target gene of SOX9 in cranial neural crest cells · Matthias Weider · 2026 · Cites this paper
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  16. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. · Angus John Clarke · 1987 · 276 citations · Cited by this paper
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  20. Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice · Helen A. Thomason · 2010 · 153 citations · Cited by this paper
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  22. A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias · Francesca Moretti · 2010 · 140 citations · Cited by this paper
  23. Conserved transactivation domain shared by interferon regulatory factors and Smad morphogens · Alexey M. Eroshkin · 1999 · 108 citations · Cited by this paper
  24. Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy · Gert Blüschke · 2010 · 97 citations · Cited by this paper
  25. Developmental expression analysis of the mouse and chick orthologues of IRF6: The gene mutated in Van der Woude syndrome · Alexandra S. Knight · 2005 · 92 citations · Cited by this paper
  26. The RIPK4–IRF6 signalling axis safeguards epidermal differentiation and barrier function · Nina Oberbeck · 2019 · 92 citations · Cited by this paper
  27. Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryos · Jaime L. Sabel · 2008 · 75 citations · Cited by this paper
  28. Toward an orofacial gene regulatory network · Youssef A. Kousa · 2015 · 73 citations · Cited by this paper
  29. Receptor-interacting Protein Kinase 4 and Interferon Regulatory Factor 6 Function as a Signaling Axis to Regulate Keratinocyte Differentiation · Mei Qi Kwa · 2014 · 62 citations · Cited by this paper
  30. Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases · Elizabeth J. Leslie · 2012 · 62 citations · Cited by this paper
  31. Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update · Nicolai Peschel · 2022 · 58 citations · Cited by this paper
  32. Interferon Regulatory Factor 6 Is Necessary, but Not Sufficient, for Keratinocyte Differentiation · Leah C. Biggs · 2011 · 49 citations · Cited by this paper
  33. IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population · Yongchu Pan · 2010 · 47 citations · Cited by this paper
  34. Mosaicism in Cutaneous Disorders · Young Hee Lim · 2017 · 44 citations · Cited by this paper
  35. Role of p63 and the Notch pathway in cochlea development and sensorineural deafness · Alessandro Terrinoni · 2013 · 41 citations · Cited by this paper
  36. Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes · Jin Ben · 2005 · 39 citations · Cited by this paper
  37. A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement · Holm Schneider · 2023 · 39 citations · Cited by this paper
  38. Full Spectrum of Postnatal Tooth Phenotypes in a Novel Irf6 Cleft Lip Model · Emily Y. Chu · 2016 · 37 citations · Cited by this paper
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