ArticleBritish journal of cancer2000
Identification of MEN1 gene mutations in families with MEN 1 and related disorders.
Article in British journal of cancer, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 63 citations in OpenAlex.
- Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series.Journal of clinical medicine · 2025Article
- Integrated treatment guided by RNA-seq-based endometrial receptivity assessment for infertility complicated by MEN1.Frontiers in endocrinology · 2023Article
- Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly.The Journal of clinical endocrinology and metabolism · 2020Article
- Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Human mutation · 2017Review
- Article
- Multiple Endocrine Neoplasia: A Genetically Diverse Group of Familial Tumor Syndromes.Journal of pediatric genetics · 2016Review
- Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.Journal of bone and mineral metabolism · 2014Review
- Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression.Familial cancer · 2014Article
- Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.The Journal of molecular diagnostics : JMD · 2006Article
- A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.Journal of medical genetics · 2005Article
- A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors.Journal of endocrinological investigation · 2004Article
- Isolated familial somatotropinoma.Pituitary · 2004Article
- Independent genetic events associated with the development of multiple parathyroid tumors in patients with primary hyperparathyroidism.The American journal of pathology · 2002Article
- The MEN1 gene and associated diseases: an update.Endocrine pathology · 2001Review
- Menin immunoreactivity in secretory granules of human pancreatic islet cells.Applied immunohistochemistry & molecular morphology : AIMMArticle
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Following identification of the MEN1 gene, we analysed patients from 12 MEN 1 families, 8 sporadic cases of MEN 1, and 13 patients with MEN 1-like symptoms (e.g. cases of familial isolated hyperparathyroidism (FIHPT), familial acromegaly, or atypical MEN 1 cases) for the presence of germline MEN1 mutations. The entire coding region of the MEN1 gene was sequenced, and mutations were detected in 11 MEN 1 families; one sporadic MEN 1 patient, one case of FIHPT and one MEN 1-like case. Constitutional DNA samples from individuals without MEN1 mutations were digested with several restriction enzymes, Southern blotted and probed with MEN1 cDNA to analyse for the presence of larger deletions of the MEN1 gene unable to be detected by PCR. One MEN 1 patient was found to carry such a deletion. This patient was heterozygous for the D418D polymorphism, however sequence analysis of RT-PCR products showed that only the variant allele was transcribed, thus confirming the result obtained by Southern analysis, which indicated loss of a region containing the initiation codon of one allele.
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