ReviewTrends in genetics : TIG2019
SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations.
Review in Trends in genetics : TIG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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, 2 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review.BMC pediatrics · 2026Pooled it
- Differential expression of members of SOX family of transcription factors in failing human hearts.Translational research : the journal of laboratory and clinical medicine · 2022Pooled it
- Cells for blastema formation: Lessons from the annelid regenerative model.Cell and tissue research · 2026Review
- Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups-a DSDgene study.Journal of the Endocrine Society · 2026Article
- Three Novel de NovoGenes · 2026Review
- The mutual regulation of SOX12 and RNF168 modulates cisplatin resistance in esophageal squamous cell carcinoma cells by regulating DNA damage repair.Cell & bioscience · 2026Article
- Molecular Effect of Tobacco on Genetic, Epigenetic, and Metabolic Pathways During Cancer Progression.Cureus · 2026Review
- The ductal network in the human testis and epididymis: What belongs to which?Clinical anatomy (New York, N.Y.) · 2025Review
- Molecular and Functional Divergence of Zebrafish Sox Paralogs Controlling Endoderm Formation and Left-Right Patterning.Genome biology and evolution · 2025Article
- Refining the Sox10Animal models and experimental medicine · 2025Article
- Transcriptional regulation as a dose-dependent process: insights from transcription factor tuning.Open biology · 2025Review
- Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.The Journal of clinical endocrinology and metabolism · 2025Article
- SOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis.Cellular and molecular life sciences : CMLS · 2025Article
- Role of the SOX family in cancer immune evasion: Emerging player and promising therapeutic opportunities.Medicine · 2025Review
- Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.Frontiers in pediatrics · 2025Article
- SEM-2/SoxC regulates multiple aspects of C. elegans postembryonic mesoderm development.PLoS genetics · 2025Article
- Molecular Analysis of the Differential Activity of Sox8 and Sox10 in Oligodendroglial Cells.International journal of molecular sciences · 2024Article
- Mapping the epigenomic landscape of post-traumatic stress disorder in human cortical neurons.medRxiv : the preprint server for health sciences · 2024Article
- Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.The Journal of biological chemistry · 2024Article
- SoxC and MmpReg promote blastema formation in whole-body regeneration of fragmenting potworms Enchytraeus japonensis.Nature communications · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The SRY-related (SOX) transcription factor family pivotally contributes to determining cell fate and identity in many lineages. Since the original discovery that SRY deletions cause sex reversal, mutations in half of the 20 human SOX genes have been associated with rare congenital disorders, henceforward called SOXopathies. Mutations are generally de novo, heterozygous, and inactivating, revealing gene haploinsufficiency, but other types, including duplications, have been reported too. Missense variants primarily target the HMG domain, the SOX hallmark that mediates DNA binding and bending, nuclear trafficking, and protein-protein interactions. We here review key clinical and molecular features of SOXopathies and discuss the prospect that the disease family likely involves more SOX genes and larger clinical and genetic spectrums than currently appreciated.
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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.