ReviewJournal of medical genetics2005
The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.
Review in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 61 citations in OpenAlex.
- SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage.The Journal of investigative dermatology · 2025Article
- A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome.BMC gastroenterology · 2022Article
- Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis.Cancers · 2022Review
- An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.Familial cancer · 2018Review
- Carney complex: A familial lentiginosis predisposing to a variety of tumors.Reviews in endocrine & metabolic disorders · 2016Review
- Hereditary syndromes predisposing to endocrine tumors and their skin manifestations.Reviews in endocrine & metabolic disorders · 2016Review
- SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype.The Journal of investigative dermatology · 2015Article
- Oral pigmentation: A review.Journal of pharmacy & bioallied sciences · 2015Review
- BRAF gene: From human cancers to developmental syndromes.Saudi journal of biological sciences · 2015Review
- Lentiginoses in polycythemia vera patient: Is there a role for JAK2 (V617F) mutation?JAK-STAT · 2015Article
- Large-cell calcifying Sertoli cell tumors of the testes in pediatrics.Current opinion in pediatrics · 2012Review
- The differential diagnosis of familial lentiginosis syndromes.Familial cancer · 2011Review
- AMP kinase-related kinase NUAK2 affects tumor growth, migration, and clinical outcome of human melanoma.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Leser-Trélat syndrome in patients affected by six multiple metachronous primitive cancers.Journal of hematology & oncology · 2010Article
- Carney complex and lentiginosis.Pigment cell & melanoma research · 2009Review
- [Skin tumours of the facial area].HNO · 2009Review
- Ectopic thymus presenting as a thyroid nodule in a patient with the Carney complex.Thyroid : official journal of the American Thyroid Association · 2009Article
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 2 institutions in 1 country.
Funding
Abstract
Familial lentiginosis syndromes cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous lentigines unassociated with systemic disease, to associations with several syndromes carrying increased risk of formation of hamartomas, hyperplasias, and other neoplasms. The molecular pathways involved in the aetiology of these syndromes have recently been more clearly defined and several major cellular signalling pathways are probably involved: the protein kinase A (PKA) pathway in Carney complex (CNC), the Ras/Erk MAP kinase pathway in LEOPARD/Noonan syndromes, and the mammalian target of rapamycin pathway (mTOR) in Peutz-Jeghers syndrome and the diseases caused by PTEN mutations. Here we discuss the clinical presentation of these disorders and discuss the molecular mechanisms involved. The presence of lentigines in these diseases caused by diverse molecular defects is probably more than an associated clinical feature and likely reflects cross talk and convergence of signalling pathways of central importance to embryogenesis, neural crest differentiation, and end-organ growth and function of a broad range of tissues including those of the endocrine, reproductive, gastrointestinal, cardiac, and integument systems.
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.