ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2022
OFD1: One gene, several disorders.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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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
25 citing papers in PubMed, 42 citations in OpenAlex.
- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- Diseases of the primary cilia: a clinical characteristics review.Pediatric nephrology (Berlin, Germany) · 2025Review
- Conservation of OFD1 Protein Motifs: Implications for Discovery of Novel Interactors and the OFD1 Function.International journal of molecular sciences · 2025Article
- Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance.Biomedicines · 2025Article
- A Novel Pathogenic Splicing Mutation ofPharmacogenomics and personalized medicine · 2025Article
- Case Report: Identification of a novel hemizygousFrontiers in medicine · 2025Article
- Article
- Case series of kidney transplantation in two pediatric recipients with rare genetic diseases and intellectual disability.BMC pediatrics · 2024Article
- Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.Orphanet journal of rare diseases · 2024Article
- Syndromic ciliopathy: a taiwanese single-center study.BMC medical genomics · 2024Article
- Advances in epileptic network findings of hypothalamic hamartomas.Journal of central nervous system disease · 2024Review
- Identification of cuproptosis-related gene clusters and immune cell infiltration in major burns based on machine learning models and experimental validation.Frontiers in immunology · 2024Article
- Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin.International journal of molecular sciences · 2023Article
- Article
- Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.Advances in kidney disease and health · 2023Review
- CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.The Journal of clinical investigation · 2023Article
- Article
- Dental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature.BMC oral health · 2023Review
- Review
- Quantitative phosphoproteomic analysis reveals unique cAMP signaling pools emanating from AC2 and AC6 in human airway smooth muscle cells.Frontiers in physiology · 2023Article
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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The OFD1 protein is necessary for the formation of primary cilia and left-right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (OFDI) and Joubert syndromes (JBS10), and Primary ciliary dyskinesia (PCD), to the engagement of single tissues such as in the case of retinitis pigmentosa (RP23). The inheritance pattern of these condition differs from X-linked dominant male-lethal (OFDI) to X-linked recessive (JBS10, PCD, and RP23). Distinctive biological peculiarities of the protein, which can contribute to explain the extreme clinical variability and the genetic mechanisms underlying the different disorders are discussed. The extensive spectrum of clinical manifestations observed in OFD1-mutated patients represents a paradigmatic example of the complexity of genetic diseases. The elucidation of the mechanisms underlying this complexity will expand our comprehension of inherited disorders and will improve the clinical management of patients.
Indexed as
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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.