ReviewOrphanet journal of rare diseases2014
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
Review in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis 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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with Stüve-Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report.International journal of molecular sciences · 2026Article
- Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature.Clinical case reports · 2026Article
- Article
- Phenome-Wide Association Study of Latent Autoimmune Diabetes from a Southern Mexican Population Implicates rs7305229 with Plasmatic Anti-Glutamic Acid Decarboxylase Autoantibody (GADA) Levels.International journal of molecular sciences · 2024Article
- Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in theFrontiers in pediatrics · 2024Article
- A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.Frontiers in pediatrics · 2024Article
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- The Pleiotropic role, functions and targeted therapies of LIF/LIFR axis in cancer: Old spectacles with new insights.Biochimica et biophysica acta. Reviews on cancer · 2022Review
- Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant.International journal of pediatrics & adolescent medicine · 2022Article
- Leukemia Inhibitory Factor: An Important Cytokine in Pathologies and Cancer.Biomolecules · 2022Review
- gp130/STAT3 signaling is required for homeostatic proliferation and anabolism in postnatal growth plate and articular chondrocytes.Communications biology · 2022Article
- The IL6-like Cytokine Family: Role and Biomarker Potential in Breast Cancer.Journal of personalized medicine · 2021Review
- Oral ulceration in Stüve-Wiedemann syndrome: a new presentation.BMJ case reports · 2021Article
- Emerging Perspectives on Leukemia Inhibitory Factor and its Receptor in Cancer.Frontiers in oncology · 2021Review
- Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report.Journal of applied genetics · 2020Article
- Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.The Journal of experimental medicine · 2020Article
- Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- Cytoplasmic LIF reprograms invasive mode to enhance NPC dissemination through modulating YAP1-FAK/PXN signaling.Nature communications · 2018Article
- Network analysis of microRNAs, genes and their regulation in diffuse and follicular B-cell lymphomas.Oncotarget · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare bent-bone dysplasia that includes radiologic bone anomalies, respiratory distress, feeding difficulties, and hyperthermic episodes. STWS usually results in infant mortality, yet some STWS patients survive into and, in some cases, beyond adolescence. STWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is inherited in an autosomally recessive pattern. Most LIFR mutations resulting in STWS are null mutations which cause instability of the mRNA and prevent the formation of LIFR, impairing the signaling pathway. LIFR signaling usually follows the JAK/STAT3 pathway, and is initiated by several interleukin-6-type cytokines. STWS is managed on a symptomatic basis since there is no treatment currently available.
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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.