ArticleAmerican journal of human genetics2001
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 160 citations in OpenAlex.
- Genetic basis for kidney cancer: opportunity for disease-specific approaches to therapy.Expert opinion on biological therapy · 2008Pooled it
- Trial
- Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications.European journal of human genetics : EJHG · 2026Review
- Pathologic Complete Response After Preoperative Ipilimumab and Nivolumab in an HLRCC Patient with Stage III Renal Cell Carcinoma.Journal of kidney cancer and VHL · 2026Article
- Timely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer.Pathology oncology research : POR · 2025Article
- Advances in Molecular Mechanisms of Kidney Disease: Integrating Renal Tumorigenesis of Hereditary Cancer Syndrome.International journal of molecular sciences · 2024Review
- Genetic Alterations in Benign Adrenal Tumors.Biomedicines · 2022Review
- [Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2021Article
- Complete Response of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)-Associated Renal Cell Carcinoma to Pembrolizumab Immunotherapy: A Case Report.Frontiers in oncology · 2021Article
- Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.Familial cancer · 2021Article
- Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.Frontiers in endocrinology · 2021Review
- Adrenocortical tumorigenesis: Lessons from genetics.Best practice & research. Clinical endocrinology & metabolism · 2020Review
- Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research.Seminars in cancer biology · 2020Review
- Hereditary Leiomyomatosis and Renal Cell Cancer.Acta dermato-venereologica · 2020Article
- Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.Endocrine-related cancer · 2015Article
- Evaluation of GWAS candidate susceptibility loci for uterine leiomyoma in the multi-ethnic NIEHS uterine fibroid study.Frontiers in genetics · 2015Article
- Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2014Article
- Confounding by linkage disequilibrium.Journal of human genetics · 2014Review
- Aerobic glycolysis: a novel target in kidney cancer.Expert review of anticancer therapy · 2013Review
- Multiple cutaneous and uterine leiomyomatosis syndrome: a review.The Journal of clinical and aesthetic dermatology · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 15 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dominant transmission of multiple uterine and cutaneous smooth-muscle tumors is seen in the disorder multiple leiomyomatosis (ML). We undertook a genomewide screen of 11 families segregating ML and found evidence for linkage to chromosome 1q42.3-q43 (maximum multipoint LOD score 5.40). Haplotype construction and analysis of recombinations permitted the minimal interval containing the locus, which we have designated "MCUL1," to be refined to an approximately 14-cM region flanked by markers D1S517 and D1S2842. Allelic-loss studies of tumors indicated that MCUL1 may act as a tumor suppressor. Identification of MCUL1 should have wide interest, since this gene may harbor low-penetrance variants predisposing to the common form of uterine fibroids and/or may undergo somatic mutation in sporadic leiomyomata.
Indexed as
Identifiers
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.