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Open research questions in Genetic and Kidney Cyst Diseases

86 unresolved questions extracted from the limitations and future-work sections of 189 Genetic and Kidney Cyst Diseases papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • further research is needed to understand the genetic architecture of CKM syndrome, - investigation of the complex pathophysiological network among cardiovascular diseases, chronic kidney diseases, and metabolic disorders is required, - exploration of the genetic basis of individual metabolic phenotypes is necessary

    Integrative genomic dissection of cardio-kidney-metabolic syndrome reveals novel loci, causal genes, and tissue-specific pathways in European populations · 2026 · DOI

  • The overall genetic architecture of CKM syndrome as a multisystem comorbidity has not been fully resolved. Current research in dissecting CKM syndrome faces several challenges, including understanding complex causal relationships.

    Integrative genomic dissection of cardio-kidney-metabolic syndrome reveals novel loci, causal genes, and tissue-specific pathways in European populations · 2026 · DOI

  • The complexity of primary cilia structure and function. The lack of understanding of the exact mechanisms by which primary cilia influence the progression of Alzheimer's disease. The need for further studies on neuronal and glial cilia dynamics during aging and neurodegeneration.

    Primary cilia in the mature brain: emerging roles in Alzheimer’s disease pathogenesis · 2025 · DOI

  • Future studies on neuronal and glial cilia dynamics during aging and neurodegeneration are essential to explore their potential as therapeutic targets. Research is needed to characterize primary cilia in postmortem human AD brain tissue.

    Primary cilia in the mature brain: emerging roles in Alzheimer’s disease pathogenesis · 2025 · DOI

  • Microtubule networks of many differentiated cell types, such as epithelial cells, are poorly understood due to their complexity and high density.

    Microtubule organization and molecular architecture of ciliary basal bodies in multiciliated airway cells · 2026 · DOI

  • However, the molecular mechanisms underlying DLG1-mediated ciliary regulation and its interaction network remain poorly defined.

    ZDHHC5 interacts physically and functionally with DLG1 at primary cilia and regulates ciliary length and kidney morphology · 2026 · DOI

  • Despite their critical role in ciliary motility, the molecular composition and related physiological functions remain to be elucidated.

    EFCAB10 anchors AK8 to the radial spoke for proper ciliary motility · 2025 · DOI

  • While primary cilia are present in endometrial stromal cells, their role in pregnancy remains unknown.

    Primary cilia prevent activation of the cGAS-STING pathway during mouse decidualization · 2025 · DOI

  • Congenital hepatic fibrosis (CHF) caused by mutations in the polycystic kidney and hepatic disease 1 ( PKHD1 ) gene is a rare genetic disorder with poorly understood pathogenesis.

    Multi-omics analysis of host-microbiome interactions in a mouse model of congenital hepatic fibrosis · 2025 · DOI

  • While specific proteins that localize to the distal appendages have been identified, how exactly each protein functions to achieve the multiple roles of the distal appendages is poorly understood.

    A hierarchical pathway for assembly of the distal appendages that organize primary cilia · 2025 · DOI

  • Existence of cilia in the last eukaryotic common ancestor raises a fundamental question in biology: how the transcriptional regulation of ciliogenesis has evolved? One conceptual answer to this question is by an ancient transcription factor regulating ciliary gene expression in both uni- and multicellular organisms, but examples of such transcription factors in eukaryotes are lacking.

    Control of ciliary transcriptional programs during spermatogenesis by antagonistic transcription factors · 2025 · DOI

  • We aimed to addresses gaps in understanding BBS by comparing our data and existing literature through a narrative review.

    Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review · 2024 · DOI

  • In contrast, how soluble proteins are delivered into the cilium is poorly understood.

    The exocyst complex and intracellular vesicles mediate soluble protein trafficking to the primary cilium · 2024 · DOI

  • This report highlights diagnostic and therapeutic challenges and underscores the need for further research on this complex disorder.

    Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine · 2024 · DOI

  • CONCLUSIONS: This case suggests the possible association of additional phenotypic features associated with XPNPEP3 mutations, emphasizing the need for further investigation into the heterogeneous clinical presentations associated with XPNPEP3 mutations.

    Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review · 2024 · DOI

  • The full phenotypic spectrum associated with mutations in XPNPEP3 is not fully elucidated.

    Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review · 2024 · DOI

  • However, the mechanisms underlying these functions remain unknown, in part due to a lack of structural information of rootlet organization.

    A cryo-electron tomography study of ciliary rootlet organization · 2024 · DOI

  • The role of PKD2 in cardiomyocyte function and disease is not well understood. The effects of PKD2 deficiency on contractile force and SERCA2 expression are not well characterized.

    Investigating PKD2 deficiency-associated cardiomyopathies using hESC-cardiomyocytes and bioengineered 3D ventricular cardiac tissue strips · 2026 · DOI

  • The study found that small molecular chaperones 4-PBA/TUDCA and SERCA activator CDN1163 could only partially restore contractile deficiency, and further optimization of these therapeutic agents is needed for complete restoration of function.

    Investigating PKD2 deficiency-associated cardiomyopathies using hESC-cardiomyocytes and bioengineered 3D ventricular cardiac tissue strips · 2026 · DOI

  • Genetic heterogeneity of EVC syndrome. Limited understanding of the genetic cause of EVC syndrome. Technical challenges of preimplantation genetic testing.

    Identification of EVC variants and the preimplantation genetic testing in a Chinese family · 2026 · DOI

  • Further studies to understand the genetic cause of EVC syndrome. Investigation of the functional impact of EVC variants on protein expression and function.

    Identification of EVC variants and the preimplantation genetic testing in a Chinese family · 2026 · DOI

  • The molecular mechanisms underlying primary cilia dysfunction are not well understood. There is a need for a physiologically relevant model system to investigate the disease mechanisms of PKD.

    Modelling kidney cystogenesis using human kidney tubuloid cultures · 2026 · DOI

  • Cyst-type composition varied widely across patients and in an orthologous mouse model (Pkd1RC/RC) in which the burden of AQP2-positive cysts correlated with responsiveness to tolvaptan.

    Cyst-type epithelial heterogeneity shapes therapeutic responsiveness in ADPKD · 2026 · DOI

  • The need for sample size calculations for detecting treatment-induced changes in endogenous creatinine generation. The lack of comprehensive understanding of treatment-induced changes in ADPKD trials.

    Supplementary Appendix: Sample Size Considerations for Detecting Treatment-Induced Changes in Endogenous Creatinine Generation in Trials Using Creatinine-Based eGFR Outcomes · 2026 · DOI

  • There is a need for more research on the long-term outcomes, safety, and ethical implications of gene editing therapies in humans. There is a need for more research on the use of AI-based tools in PKD treatment.

    Personalized Medicine in Polycystic Kidney Disease: Emerging Precision Therapeutics and Future Clinical Perspectives · 2026 · DOI

Most-cited papers in Genetic and Kidney Cyst Diseases

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86 open questions have been extracted from the limitations and future-work passages of 189 Genetic and Kidney Cyst Diseases papers in our 4.5M-paper local library. Each one below links back to the study that raised it, so you can read the original claim in context.

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