Research map: Pyle disease – Functional validation of disease-causing missense variants in SFRP4/sFRP4

Back to the article

Papers in this map

  1. World Medical Association Declaration of Helsinki · 2013 · 30960 citations · Cited by this paper
  2. Trends in anti-osteoporosis pharmacotherapy and pharmacological initiation for secondary fracture prevention in Japan, 2017–2023 · 2026 · Related
  3. The mutational constraint spectrum quantified from variation in 141,456 humans · Konrad J. Karczewski · 2020 · 10435 citations · Cited by this paper
  4. Unsupervised machine learning derived bone phenotypes exhibit differential biomarker responses following acute ballistic loaded exercise · 2026 · Related
  5. SIFT: predicting amino acid changes that affect protein function · P. C. Ng · 2003 · 6997 citations · Cited by this paper
  6. Perspective on unmet need for effective treatment in fibrous dysplasia and rare paediatric bone disease · 2026 · Related
  7. WNT signaling in bone homeostasis and disease: from human mutations to treatments · Roland Baron · 2013 · 2121 citations · Cited by this paper
  8. Roles of circulating proteins in osteoporosis pathogenesis: Insights from Mendelian randomization · 2026 · Related
  9. Insights into Wnt binding and signalling from the structures of two Frizzled cysteine-rich domains · Charles E. Dann · 2001 · 475 citations · Cited by this paper
  10. Gut microbiome and avascular necrosis: A scoping review of current evidence and knowledge gaps · 2026 · Related
  11. MutationTaster2021 · Robin Steinhaus · 2021 · 341 citations · Cited by this paper
  12. Body composition and energy expenditure of patients with Fibrodysplasia Ossificans Progressiva · 2026 · Related
  13. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia · Peter Nürnberg · 2001 · 246 citations · Cited by this paper
  14. The fracture healing diet. Can nutritional supplements enhance osteogenic potential and fracture healing? A scoping review of current literature · 2026 · Related
  15. Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease · Pelin Özlem Şimşek‐Kiper · 2016 · 153 citations · Cited by this paper
  16. Complexity of genomic diagnosis: Lessons learnt from the UK Biobank and Generation study newborn genome sequencing analyses · 2026 · Related
  17. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation · Long Zhe Guo · 2019 · 139 citations · Cited by this paper
  18. Partial lumbar spine response in hip non-responders to romosozumab: Baseline bone mineral density as the principal determinant in a multi-center real-world Japanese cohort (n = 398) · 2026 · Related
  19. sFRP4-dependent Wnt signal modulation is critical for bone remodeling during postnatal development and age-related bone loss · Ryuma Haraguchi · 2016 · 79 citations · Cited by this paper
  20. MRI reveals selective recovery in bone microarchitecture two years following kidney transplantation · 2026 · Related
  21. A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia · Ying Hu · 2013 · 77 citations · Cited by this paper
  22. Structure–Function analysis of secreted frizzled‐related protein‐1 for its Wnt antagonist function · Ramesh A. Bhat · 2007 · 72 citations · Cited by this paper
  23. Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption · Kun Chen · 2019 · 47 citations · Cited by this paper
  24. Pyle disease (metaphyseal dysplasia). · Peter Beighton · 1987 · 46 citations · Cited by this paper
  25. A novel sequence variant in SFRP4 causing Pyle disease · Chelna Galada · 2017 · 30 citations · Cited by this paper
  26. Dysosteosclerosis is also caused by TNFRSF11A mutation · Long Zhe Guo · 2018 · 26 citations · Cited by this paper
  27. A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease · Nicolas Chatron · 2017 · 19 citations · Cited by this paper
  28. Sfrp4 is required to maintain Ctsk-lineage periosteal stem cell niche function · Ruiying Chen · 2023 · 17 citations · Cited by this paper
  29. TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum · Jingyi Xue · 2019 · 16 citations · Cited by this paper
  30. Pyle disease (metaphyseal dysplasia) presenting in two adult sisters · Diego Ximenes Soares · 2016 · 12 citations · Cited by this paper
  31. The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings · Anna Sowińska‐Seidler · 2020 · 10 citations · Cited by this paper
  32. Craniofacial, dental, and molecular features of Pyle disease in a South African child · Manogari Chetty · 2022 · 6 citations · Cited by this paper
  33. Evolutionary and Structural Assessment of the Human Secreted Frizzled-Related Protein (SFRP) Family · Ladan Mafakher · 2025 · 3 citations · Cited by this paper
  34. Untitled · Cited by this paper

Source: OpenAlex (CC0)