ArticleJournal of medical genetics2006
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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.
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Who cites it
12 citing papers in PubMed, 58 citations in OpenAlex.
- Parathyroid Tumors: Molecular Signatures.International journal of molecular sciences · 2021Review
- A Novel Germline c.1267T>AGenes · 2020Article
- Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Review
- Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.Human mutation · 2017Review
- Genetics of Hyperparathyroidism, Including Parathyroid Cancer.Endocrinology and metabolism clinics of North America · 2017Review
- GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.American journal of human genetics · 2016Article
- Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.Journal of bone and mineral metabolism · 2014Review
- Clinical and molecular genetics of parathyroid neoplasms.Best practice & research. Clinical endocrinology & metabolism · 2010Review
- Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.Journal of endocrinological investigation · 2009Article
- The MEN1 gene and pituitary tumours.Hormone research · 2009Review
- Parathyroid hormone-dependent hypercalcemia.Wiener klinische Wochenschrift · 2009Review
- Hyperparathyroid genes: sequences reveal answers and questions.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsReview
Corrections and comments
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Authors and funding
13 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial isolated hyperparathyroidism (FIHP) is an autosomal dominantly inherited form of primary hyperparathyroidism. Although comprising only about 1% of cases of primary hyperparathyroidism, identification and functional analysis of a causative gene for FIHP is likely to advance our understanding of parathyroid physiology and pathophysiology.
methodsA genome-wide screen of DNA from seven pedigrees with FIHP was undertaken in order to identify a region of genetic linkage with the disorder.
resultsMultipoint linkage analysis identified a region of suggestive linkage (LOD score 2.68) on chromosome 2. Fine mapping with the addition of three other families revealed significant linkage adjacent to D2S2368 (maximum multipoint LOD score 3.43). Recombination events defined a 1.7 Mb region of linkage between D2S2368 and D2S358 in nine pedigrees. Sequencing of the two most likely candidate genes in this region, however, did not identify a gene for FIHP.
conclusionsWe conclude that a causative gene for FIHP lies within this interval on chromosome 2. This is a major step towards eventual precise identification of a gene for FIHP, likely to be a key component in the genetic regulation of calcium homeostasis.
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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.