Abstract:
:Pre-mRNA splicing is an essential process in eukaryotic cells where the transcribed intronic sequences are removed, prior to translation into protein. PRPF31 is a ubiquitously expressed splicing factor, which aids in the assembly of the macromolecular spliceosome. Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa (adRP), a form of retinal degeneration that causes progressive visual impairment. Interestingly, mutations in PRPF31 are non-penetrant, with some mutation carriers being phenotypically unaffected. In this review, the gene organisation, protein structure and biological function of PRPF31 are discussed, and the mechanisms of non-penetrance in PRPF31-associated adRP are discussed.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Rose AM,Luo R,Radia UK,Bhattacharya SSdoi
10.1136/jclinpath-2016-203971subject
Has Abstractpub_date
2017-09-01 00:00:00pages
729-732issue
9eissn
0021-9746issn
1472-4146pii
jclinpath-2016-203971journal_volume
70pub_type
杂志文章,评审abstract::Renal endocrine tumours are extremely rare, and carcinoid tumoral elements in renal cell carcinoma have never been reported. This is the first report of a composite renal cell carcinoma containing a clear cell renal cell carcinoma associated with carcinoid tumoral elements, in a patient with synchronous metastatic dis...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2009.070292
更新日期:2010-02-01 00:00:00
abstract::This report describes the case of a 76 year old man who suffered from febrile ulceronecrotic Mucha-Habermann disease (FUMHD). Despite this patient's typical clinical and histological findings, the fulminating course led to death. Polymerase chain reaction (PCR) analysis of the skin lesions showed that the infiltrating...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jcp.56.10.795
更新日期:2003-10-01 00:00:00
abstract::The test is an application of the method originally described by Boyden (1951) and adapted by Stavitsky and Arquilla (1958). Sera which contain anti-Panton-Valentine leucocidin agglutinate the prepared red cells, often to a very high dilution, and this has provided a useful serological test for the diagnosis of staphy...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.14.2.161
更新日期:1961-03-01 00:00:00
abstract:AIMS:To study the incidence, investigation, and management of severe hyponatraemia (serum sodium < 120 mmol/litre) over a period of six months in a district general hospital. METHODS:The laboratory computer was used to identify all inpatients who had a serum sodium concentration of less than 120 mmol/litre over a six ...
journal_title:Journal of clinical pathology
pub_type: 评论,杂志文章
doi:10.1136/jcp.55.12.893
更新日期:2002-12-01 00:00:00
abstract::Splenic pathology was analysed in 73 patients with immune thrombocytopenic purpura who underwent splenectomy for bleeding that had been resistant to adrenocorticosteroids. The mean splenic weight was 100 g. The only notable macroscopic feature was the prominence of Malpighian corpuscles in 15 cases. Microscopic examin...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.38.9.985
更新日期:1985-09-01 00:00:00
abstract:AIM:We aimed to assess the one step nucleic acid amplification (OSNA) assay as an intraoperative method in comparison with frozen sections (FS) for detection of metastasis in sentinel lymph nodes (SLNs) of breast cancer. METHOD:100 SLNs from patients with breast carcinoma were enrolled within a 3-month period. Alterna...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2014-202361
更新日期:2014-12-01 00:00:00
abstract::In a retrospective study of the records of 160 necropsies it was found that, according to the clinical and gross necropsy findings, no clinically important abnormality would have been anticipated in 46% of the tissue samples. The estimated annual cost of processing this material alone was pounds 10,500, including the ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.40.4.459
更新日期:1987-04-01 00:00:00
abstract::An antibody was raised against a protein isolated from the cytoplasm of mesothelioma cells. It was subsequently used in an immunoperoxidase procedure on formalin fixed, paraffin embedded tissue sections. A representative sample of benign and malignant tumours from all the systems of the human body was examined. All th...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.39.9.961
更新日期:1986-09-01 00:00:00
abstract::The activities of phosphohexose isomerase and 6-phosphogluconate dehydrogenase have been studied in the vaginal fluid of women from the gynaecological departments. Women from these departments gave a very high false positive rate, though no cases of carcinoma in situ were not detected by estimating phosphohexose isome...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.19.4.378
更新日期:1966-07-01 00:00:00
abstract:AIMS:To develop a specific radioimmunoassay for the routine determination of serum vitamin B12. METHODS:Antisera were raised in rabbits by immunisation with the monocarboxylic acid derivative of cyanocobalamin coupled to human serum albumin. Antibody titres and affinities were determined and the antiserum giving the h...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.4.328
更新日期:1992-04-01 00:00:00
abstract:AIM:Nowadays, extracellular vesicles are of great interest in prostate cancer (PCa) research. Asparagine (N)-linked glycosylation could play a significant role in the pathological mechanism of these vesicles. We investigated if prostatic protein N-glycosylation profiles were related to urinary vesicle-associated prosta...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2016-204312
更新日期:2017-10-01 00:00:00
abstract::Inhibition of streptolysin O activity by cholesterol depends on the latter being in free form. The normal esterified and protein-bound cholesterol fractions in serum do not influence streptolysin O activity. However, high cholesterol levels in rabbits fed cholesterol with cholic acid were associated with an increased ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.25.10.885
更新日期:1972-10-01 00:00:00
abstract:OBJECTIVE:To describe practical experiences in the sharing of very large digital data bases of histopathological imagery via the Internet, by investigators working in Europe, North America, and South America. MATERIALS:Experiences derived from medium power (sampling density 2.4 pixels/microm) and high power (6 pixels/...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.55.6.452
更新日期:2002-06-01 00:00:00
abstract::A manual system of microbiology reporting with a National Cash Register (NCR) form with printed names of bacteria and antiboitics required less time to compose reports than a previous manual system that involved rubber stamps and handwriting on plain report sheets. The NCR report cost 10-28 pence and, compared with a ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.29.6.553
更新日期:1976-06-01 00:00:00
abstract:AIMS:N-terminal pro-B-type natriuretic peptide (NT-proBNP) has been shown to be useful for ruling out heart failure in primary care. In this study, we examined the accuracy of the Cobas h232 point-of-care (POC) instrument in primary care compared with an in-hospital measurement. Furthermore, we investigated the user-fr...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,多中心研究
doi:10.1136/jclinpath-2017-204746
更新日期:2018-06-01 00:00:00
abstract::Two cases of peritoneal granulomatous reactions to food starch are described. They followed bowel perforation and clinically mimicked tuberculous and glove-powder starch peritonitis. Their histological differences from corn-starch peritonitis warrant attention in the absence of previous documentation of starch as a co...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.36.4.435
更新日期:1983-04-01 00:00:00
abstract::Cell surface proteolysis is an important mechanism for generating biologically active proteins that mediate a range of cellular functions and contribute to biological processes such as angiogenesis. Although most studies have focused on the plasminogen system and matrix metalloproteinases (MMPs), recently there has be...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jcp.2003.014472
更新日期:2004-06-01 00:00:00
abstract::Advanced non-small cell lung cancer samples are tested for epidermal growth factor receptor (EGFR) gene mutations. Their detection by direct sequencing is time-consuming. Conversely, the length analysis of fluorescently labelled PCR products is easier. To avoid labelled primers and the automated capillary electrophore...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2013-201730
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:The disorders associated with metabolic syndrome (MS) can lead to renal disease. IgA nephropathy is the most common form of glomerulonephritis, and many patients with this disorder progress to renal failure. AIMS:To identify the effect of MS on IgA nephropathy by retrospectively comparing patients who had I...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2009.074278
更新日期:2010-08-01 00:00:00
abstract::Six fetal and 10 neonatal rat or mouse stomachs and a 14-week human fetal stomach were examined for immunofluorescence reactivity with four sera containing parietal cell antibody (PCA) and four other sera containing smooth muscle antibody (SMA). In rat and mouse stomachs, parietal cells first reacted with PCA in 19-da...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.31.6.578
更新日期:1978-06-01 00:00:00
abstract::Routine endometrial cytology was used instead of curettage as the first step in a morphological investigation of the endometrium in patients with postmenopausal bleeding. Premenopausal women with symptoms or signs indicative of premalignant or malignant disease were also studied using this method. Patients with alarmi...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.39.1.36
更新日期:1986-01-01 00:00:00
abstract::Carcinoma-associated fibroblast (CAF) as prominent cell type of the tumour microenvironment has complex interaction with both the cancer cells and other non-neoplastic surrounding cells. The CAF-derived regulators and extracellular matrix proteins can support cancer progression by providing a protective microenvironme...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jclinpath-2014-202561
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Prostate cancer diagnosis is routinely made by the histopathological examination of formalin fixed needle biopsy specimens. Frequently this is the only cancer tissue available from the patient for the analysis of diagnostic and prognostic biomarkers. There is, therefore, an urgent need for methods that allow...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2009.065201
更新日期:2009-08-01 00:00:00
abstract:AIMS:To characterise further the proliferative compartment of the normal cervix and to document its alteration, if any, in the various grades of cervical intraepithelial neoplasia (CIN), particularly changes to the basal epithelial layer; to hypothesise as to the diagnostic and biological significance of any observed d...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.49.8.667
更新日期:1996-08-01 00:00:00
abstract::Sera from 20 cases of toxoplasmic lymphadenopathy were examined by an enzyme linked immunosorbent assay toxoplasma IgG avidity (ELISA) at two laboratories. The results obtained were largely in agreement and showed that sera from patients with acute infection had low avidity IgG (30% or less), whereas sera from patient...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.43.12.1032
更新日期:1990-12-01 00:00:00
abstract:AIMS:Periductal angiogenesis in ductal carcinoma in situ is associated with an increased risk of subsequently developing a recurrence. This study aimed to (1) identify the relation between periductal and stromal vascularity and recurrence and (2) determine whether thymidine phosphorylase (TP) is associated with angioge...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.56.12.919
更新日期:2003-12-01 00:00:00
abstract::Electron microscopy od duodenal mucosa from children with acute non-bacterial enteritis has shown virus particles in epithelial cells. Indirect immunofluorescent techniques applied to the same tissue showed virus antigen localized in the cytoplasm of epithelial cells of the villi. Specific IgM antibody was present in ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.28.4.263
更新日期:1975-04-01 00:00:00
abstract:AIMS:To study the oesophageal histological changes in long term users of non-steroidal anti-inflammatory drugs (NSAIDs) compared with patients not receiving these drugs. METHODS:Ninety eight patients were studied, 53 of whom had taken NSAIDs for three years; 45 had not. Oesophageal biopsy specimens were taken from hea...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.47.8.705
更新日期:1994-08-01 00:00:00
abstract::A case of cryptococcal meningo-encephalitis is described. Treatment with the fungicidal agent amphotericin B resulted in temporary improvement, but the patient relapsed and died 17 months after diagnosis. The pathology and treatment of the disease are discussed. ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.18.3.296
更新日期:1965-05-01 00:00:00
abstract:AIMS:Inflammatory bowel disease (IBD)-associated precancerous lesions may be adenomatous or non-adenomatous with various histomorphologies. We aim to validate the newly proposed classification, to explore the neoplastic nature of the non-adenomatous lesions and to elucidate the molecular mechanisms underlying the diffe...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2019-206247
更新日期:2020-07-01 00:00:00