ArticleClinical genetics2007
Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.
Article in Clinical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome.Familial cancer · 2015Pooled it
- Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11.Molecular cytogenetics · 2025Article
- Intestinal intussusception in a child with Peutz-Jeghers syndrome: case report.Annals of medicine and surgery (2012) · 2023Article
- STK11 Causative Variants and Copy Number Variations Identified in Thai Patients With Peutz-Jeghers Syndrome.Cureus · 2023Article
- Review
- Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.World journal of gastroenterology · 2021Article
- A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.Molecular genetics & genomic medicine · 2021Article
- The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.Journal of clinical medicine · 2021Review
- Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.World journal of gastroenterology · 2020Article
- Must Peutz-Jeghers syndrome patients have theWorld journal of clinical cases · 2018Article
- Genome-wide surveys reveal polarity and cytoskeletal regulators mediate LKB1-associated germline stem cell quiescence.BMC genomics · 2018Article
- Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome.British dental journal · 2017Article
- Extra-ampullary Peutz-Jeghers polyp causing duodenal intussusception leading to biliary obstruction: a case report.Journal of medical case reports · 2016Article
- First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.Familial cancer · 2016Article
- Exome sequencing revealed novel germline mutations in Chinese Peutz-Jeghers syndrome patients.Digestive diseases and sciences · 2014Article
- Novel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic management.World journal of gastrointestinal endoscopy · 2013Article
- Loss of Par-1a/MARK3/C-TAK1 kinase leads to reduced adiposity, resistance to hepatic steatosis, and defective gluconeogenesis.Molecular and cellular biology · 2010Article
- Peutz-Jeghers syndrome: diagnostic and therapeutic approach.World journal of gastroenterology · 2009Review
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
Abstract
LKB1/STK11 germline inactivations are identified in the majority (66-94%) of Peutz-Jeghers syndrome (PJS) patients. Therefore, defects in other genes or so far unidentified ways of LKB1 inactivation may cause PJS. The genes encoding the MARK proteins, homologues of the Par1 polarity protein that associates with Par4/Lkb1, were analyzed in this study because of their link to LKB1 and cell polarity. The genetic defect underlying PJS was determined through analysis of both LKB1 and all four MARK genes. LKB1 point mutations and small deletions were identified in 18 of 23 PJS families using direct sequencing and multiplex ligation-dependent probe amplification analysis identified exon deletions in 3 of 23 families. In total, 91% of the studied families showed LKB1 inactivation. Furthermore, a MARK1, MARK2, MARK3 and MARK4 mutation analysis and an MARK4 quantitative multiplex polymerase chain reaction analysis to identify exon deletions on another eight PJS families without identified LKB1 germline mutation did not identify mutations in the MARK genes. LKB1 defects are the major cause of PJS and genes of the MARK family do not represent alternative PJS genes. Other mechanisms of inactivation of LKB1 may cause PJS in the remaining families.
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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.