Abstract:
OBJECTIVE:To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31.2. HRPT2 encodes a 531 amino acid protein, parafibromin, which interacts with human homologues of the yeast Paf1 complex. DESIGN:Leukocyte and tumor DNA was used with HRPT2-specific primers for polymerase chain reaction amplification of the 17 exons and their splice junctions, and the DNA sequences of the polymerase chain reaction products determined. RESULTS:Three heterozygous germline HRPT2 mutations, two in HPT-JT and one in FIHP patients, were identified. These consisted of one 1-bp duplication (745dup1bp), 1 nonsense (Arg234Stop) and 1 missense (Asp379Asn) mutation. One parathyroid tumour from an FIHP patient was demonstrated to harbour a germline deletion of 1 bp together with a somatic missense (Leu95Pro) mutation, consistent with a 'two-hit' model for hereditary cancer. The 27 sporadic benign parathyroid tumours did not harbour any HRPT2 somatic mutations. Six HRPT2 polymorphisms with allele frequencies ranging from 2% to 15% were detected. CONCLUSIONS:Our results have identified three novel HRPT2 mutations (two germline and one somatic). The Asp379Asn mutation is likely to disrupt interaction with the human homologue of the yeast Paf1 complex, and the demonstration of combined germline and somatic HRPT2 mutations in a parathyroid tumour provide further evidence for the tumour suppressor role of the HRPT2 gene.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Bradley KJ,Cavaco BM,Bowl MR,Harding B,Cranston T,Fratter C,Besser GM,Conceição Pereira M,Davie MW,Dudley N,Leite V,Sadler GP,Seller A,Thakker RVdoi
10.1111/j.1365-2265.2006.02460.xkeywords:
subject
Has Abstractpub_date
2006-03-01 00:00:00pages
299-306issue
3eissn
0300-0664issn
1365-2265pii
CEN2460journal_volume
64pub_type
杂志文章abstract::Computed tomography of the pituitary fossa was performed in 12 patients with primary hypothyroidism before and after thyroxine treatment. In three, herniation of the diaphragma sellae precluded accurate measurement of the density of the hypophysis. Eight of the remaining patients showed abnormally increased density of...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb02997.x
更新日期:1985-05-01 00:00:00
abstract::Differentiated thyroid cancer (DTC) is the most common malignancy of the endocrine system. There has been a significant increase in its incidence over the past two decades attributable mainly to the use of more sensitive diagnostic modalities. Ultrasound-guided fine needle aspiration cytology is the mainstay of diagno...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.13369
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:Traditionally, acromegaly evaded diagnosis until in its clinically obvious later stages when treatment is more difficult. Over the last 25 years diagnostic tests have improved, but whether clinical disease detection also improved was unknown, so we tested if disease severity at diagnosis had changed from 198...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03626.x
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:We examined the individual pharmacological effects of the addition of rosiglitazone and metformin to glimepiride on inflammatory markers and adipokines in patients with type 2 diabetes mellitus. We analysed the relationships between these variables, the measurements of insulin sensitivity and beta-cell functi...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2265.2006.02723.x
更新日期:2007-02-01 00:00:00
abstract:CONTEXT:Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia syndrome (OMIM 160980). About 70% of cases are familiar; most have mutations of the PRKAR1A gene on chromosome 17q22-24. There is little phenotype-genotype correlation known to date. OBJECTIVE:To study the genotype-phenotype correlation...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03286.x
更新日期:2008-11-01 00:00:00
abstract:OBJECTIVE:Research on sources of variation in adolescent's gonadal hormone levels is limited. We sought to decompose individual differences in adolescent testosterone, estradiol, and pubertal status, into genetic and environmental components. DESIGN:A sample of male and female adolescent twins from the greater Austin ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13522
更新日期:2018-02-01 00:00:00
abstract:OBJECTIVE:To study the effects of thyroxine on orocaecal transit time in a group of elderly hypothyroid patients on long-term thyroxine replacement therapy. DESIGN:Measurement of the effect of withdrawal and subsequent replacement of thyroxine replacement therapy on orocaecal transit time. PATIENTS:Fifteen elderly, p...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1991.tb03563.x
更新日期:1991-11-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14153
更新日期:2020-04-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb02660.x
更新日期:1995-05-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb01837.x
更新日期:1994-11-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb01313.x
更新日期:1977-09-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2000.00868.x
更新日期:2000-01-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03710.x
更新日期:2010-06-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb02773.x
更新日期:1978-04-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2009.03585.x
更新日期:2009-12-01 00:00:00
abstract::Administration of the anti-inflammatory drug fenclofenac (600 mg bd) for 28 days to four females with thyrotoxicosis resulted in a rapid decline in thyroid hormone levels. The mean total thyroxine (T4) level of 173 +/- 8.6 (SEM) nmol/l before therapy was normalized to 70 +/- 6.4 nmol/l after administration of the drug...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1982.tb00729.x
更新日期:1982-04-01 00:00:00
abstract::Serum levels of thyroxine and triiodothyronine during pregnancy were measured in women from a severely iodine deficient region in the highlands of Papua New Guinea. Subsequently the children born to these women were examined when aged 10-12 years and measures made of intellectual ability and motor competence. A signif...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb03468.x
更新日期:1984-09-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1999.00844.x
更新日期:1999-11-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.03046.x
更新日期:2008-03-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12224
更新日期:2013-11-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12850
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVE:To assess the efficacy and safety of prenatal dexamethasone treatment in offspring at risk for congenital adrenal hyperplasia. METHODS:MEDLINE, EMBASE, the Cochrane Library, the clinicaltrials.gov website databases were systematically searched from inception through March 2019. WMD and SMD with 95%CIs were c...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14126
更新日期:2020-02-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01808.x
更新日期:2003-07-01 00:00:00
abstract::Sulpiride, a dopamine receptor blocker which raises prolactin, was given to six women with idiopathic amenorrhoea for 10 days and to eleven women with regular cycles for 3 to 6 months. The latter group developed galactorrhoea and amenorrhoea during treatment. Basal LH AND FSH concentrations showed no significant chang...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb01507.x
更新日期:1978-12-01 00:00:00
abstract:OBJECTIVE:To assess the relationship between serum chemokine CXC ligand 5 (CXCL5) and intima-media thickness (IMT) of the common carotid artery, a marker of preclinical atherosclerosis. DESIGN, PATIENTS AND MEASUREMENTS:We measured the IMT (mean of three segments of both carotid arteries by ultrasonography), serum CXC...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2011.04119.x
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Increased frequencies of adrenal tumours and testicular adrenal rest tumours (TART) have been reported in patients with 21-hydroxylase deficiency (21OHD). OBJECTIVE:Patients, methods and design From a cross-sectional population-based study of 101 adult Norwegian patients with 21OHD, sixty-two participated i...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2011.04151.x
更新日期:2011-12-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14121
更新日期:2020-05-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1997.3371118.x
更新日期:1997-11-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12724
更新日期:2016-02-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03358.x
更新日期:2009-04-01 00:00:00