Abstract:
:Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy. It eventually leads to tunnel vision and legal, or total blindness. Here we aimed to reveal the causal gene and mutation contributing to the development of autosomal recessive RP (arRP) in a consanguineous family. A novel homozygous mutation, c.4845delT (p.K1616Rfs*46), in the ATP-binding cassette subfamily A member 4gene ( ABCA4 ) was identified. It may reduce ABCA4 protein activity, leading to progressive degeneration of both rod and cone photoreceptors. The study extends the arRP genotypic spectrum and confirms a genotype-phenotype relationship. This study may also disclose some new clues for RP genetic causes and pathogenesis, as well as clinical and genetic diagnosis. The research findings may contribute to improvement in clinical care, therapy, genetic screening, and counseling.
journal_name
Biosci Repjournal_title
Bioscience reportsauthors
Huang X,Yuan L,Xu H,Zheng W,Cao Y,Yi J,Guo Y,Yang Z,Li Y,Deng Hdoi
10.1042/BSR20171300subject
Has Abstractpub_date
2018-04-27 00:00:00issue
2eissn
0144-8463issn
1573-4935pii
BSR20171300journal_volume
38pub_type
杂志文章abstract::More than 60 million people in the world have been diagnosed with HIV infections since the virus was recognized as the causative agent of AIDS in the 1980s. Even though more than half of the infected patients have died, effective disease treatment and prevention measures have not been established. ART (antiretroviral ...
journal_title:Bioscience reports
pub_type: 杂志文章,评审
doi:10.1042/BSR20140097
更新日期:2014-08-18 00:00:00
abstract::Two established cancer cell lines, MCF-7 and Ishikawa, were both obtained directly from a cell repository and through another laboratory. The karyotypes from the two MCF-7 cell lines had up to 83 chromosomes and similarities for chromosomal gain and structural abnormalities. The two Ishikawa cell lines had up to 60 ch...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/s10540-005-2797-5
更新日期:2004-12-01 00:00:00
abstract::Chitinases catalyze the degradation of chitin, a ubiquitous polymer generated from the cell walls of fungi, shells of crustaceans, and cuticles of insects. They are gaining increasing attention in medicine, agriculture, food and drug industries, and environmental management. Their roles in the degradation of chitin fo...
journal_title:Bioscience reports
pub_type: 杂志文章,评审
doi:10.1042/BSR20180323
更新日期:2018-08-29 00:00:00
abstract::PU box binding protein (PU.1) is a critical transcription factor involved in many pathological processes. However, its exact role in activation of hepatic stellate cells (HSCs) and liver fibrosis was rarely reported. Here, we found that, in HSCs of PU.1+/- mice, Sirt1 mRNA expression was not changed but Sirt1 protein ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20170926
更新日期:2017-12-12 00:00:00
abstract::A riboflavin carrier protein has been purified from human pregnancy and umbilical cord sera by affinity chromatography and fast protein liquid chromatography. This protein has a similar molecular weight to the chicken egg riboflavin carrier protein and shares other physicochemical properties, such as pI and riboflavin...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01119773
更新日期:1987-07-01 00:00:00
abstract::Hematopoietic pre-B cell leukemia transcription factor (PBX)-interacting protein (RRBP1) has been shown to participate in various aspects of malignancies. The clinical significance of RRBP1 and its involvement in the epithelial ovarian cancer have yet to be studied. The aim of the present study was to investigate the ...
journal_title:Bioscience reports
pub_type: 临床试验,杂志文章
doi:10.1042/BSR20190656
更新日期:2019-07-23 00:00:00
abstract::Due to poor prognosis of glioblastoma (GBM), there is an urgent need to develop new therapeutic strategies. Besides eliminating GBM tumor cells and stem cells, a novel therapeutic approach aims to target Glioma-associated microglia/macrophages (GAMs). We investigated the molecular profile of GAMs correlated with patie...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20182361
更新日期:2019-06-20 00:00:00
abstract:OBJECTIVE:X inactivate-specific transcript (XIST) is an attractive long noncoding RNA (lncRNA) functioning as an indicator of various human tumors, including laryngeal squamous cell carcinoma (LSCC). The present study was conducted to explore a novel regulatory network of lncRNA XIST in LSCC cells. MATERIALS AND METHO...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20193172
更新日期:2020-04-30 00:00:00
abstract::Long non-coding RNA (lncRNA) H19 has been implicated in tumor angiogenesis. However, whether H19 regulates the progression of corneal neovascularization (CNV) is unclear. The present study aimed to determine the function of H19 in CNV and its possible molecular mechanism. Here, we found that the H19 levels were remark...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20182394
更新日期:2019-05-02 00:00:00
abstract::Hippo pathway is a highly conservative signalling pathway related to the development of organisms, which has been demonstrated to be strongly linked to the tumorigenesis and tumour progression. As the major downstream effector of Hippo pathway, yes-associated protein (YAP), is a transcriptional activator of target gen...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20160135
更新日期:2016-09-29 00:00:00
abstract::Although radioactive iodine (131I) treatment (RIT) is recommended as the preferred option for patients with Graves' disease (GD), the predictive factors for its clinical outcomes are still unclear. In the present study, we aim to investigate the factors influencing the success rate of RIT treatment on primary GD with ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20191609
更新日期:2020-01-31 00:00:00
abstract::Ovarian cancer is one of the most common gynecological cancers with a high mortality rate in females. Chromatin target of protein arginine methyltransferase (CHTOP) is an important intracellular protein that regulates the transcriptional activation of several oncogenic genes in glioblastomagenesis and controls mature ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20190016
更新日期:2019-04-16 00:00:00
abstract::Sulphate efflux from human placental microvillus membrane vesicles was inhibited by external DIDS (KI congruent to 10(-6) M). This inhibition was partially reversed on addition of the translocated substrates sulphate or selenate to the external medium: selenite which is not translocated does not protect against DIDS i...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01116242
更新日期:1986-10-01 00:00:00
abstract:OBJECTIVE:The present study aimed to construct a diagnosis model for the early differentiation of acute radiation pneumonitis (ARP) and infectious pneumonitis based on multiple parameters. METHODS:The present study included data of 152 patients admitted to the Department of Radiochemotherapy, Tangshan People's Hospita...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20200299
更新日期:2020-04-30 00:00:00
abstract:BACKGROUND/AIMS:MicroRNAs (miRNAs) are involved in the pathogenesis of osteoarthritis (OA). The present study aimed to investigate the potential function of miR-122 in the development of OA and its potential molecular mechanisms. METHODS:The expression of miR-122, silent information regulator 1 (SIRT1), collagen II, a...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20191908
更新日期:2020-06-26 00:00:00
abstract::Aims: To identify the key differentially expressed genes (DEGs) in islet and investigate their potential pathway in the molecular process of type 2 diabetes.Methods: Gene Expression Omnibus (GEO) datasets (GSE20966, GSE25724, GSE38642) of type 2 diabetes patients and normal controls were downloaded from GEO database. ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20182172
更新日期:2019-05-31 00:00:00
abstract::Matrix-bound monoclonal antibodies against urokinase have been used to purify this enzyme by affinity chromatography. In a single-step procedure, urokinase can be isolated from crude preparations with high yield and high purity, and without loss of enzymatic activity. ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01122902
更新日期:1983-04-01 00:00:00
abstract::A consensus about the prognostic role of NIMA-related kinase 2 (NEK2) expression in various solid tumors has not been made yet. Thus, this meta-analysis aimed to systematically assess the prognostic role of NEK2 expression in patients with solid tumors. The eligible studies were identified through searching PubMed, We...
journal_title:Bioscience reports
pub_type: 杂志文章,meta分析
doi:10.1042/BSR20180618
更新日期:2019-01-18 00:00:00
abstract::The sodium contents of beta-cell-rich pancreatic islets from ob/ob-mice were measured with an integrating flame photometer. After washing to an apparent steady state with different types of ice-cold media, islets incubated in the absence of glucose contained 79-108 mmol sodium kg-1 dry weight. Exposure to glucose resu...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01114973
更新日期:1986-11-01 00:00:00
abstract::Incubation of mouse thymocytes with 10 microM monensin for 1 hour induces morphological alterations characterized by the extensive dilatation and vacuolization of the Golgi complex. This effect is used to study the transport and utilization of labelled sugar nucleotides into intracellular vesicles by using thymocytes ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01115011
更新日期:1986-02-01 00:00:00
abstract::This study is part of an attempt to understand the role of specific cellular activities in the bone resorptive process. Experiments were performed whereby known pharmacological agents were used to inhibit individual modes of osteoclastic activity, such as motility and secretion. The effects of such treatments on bone ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01116615
更新日期:1990-12-01 00:00:00
abstract::The identification of the sodium potassium pump as a Na+, K+ -ATPase is described. ...
journal_title:Bioscience reports
pub_type: 传,历史文章
doi:10.1023/a:1020196612909
更新日期:1998-08-01 00:00:00
abstract::Aspergillus fumigatus is the causative agent of IA (invasive aspergillosis) in immunocompromised patients. It possesses a cell wall composed of chitin, glucan and galactomannan, polymeric carbohydrates synthesized by processive glycosyltransferases from intracellular sugar nucleotide donors. Here we demonstrate that A...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20130053
更新日期:2013-09-04 00:00:00
abstract::This article discusses how changes in luminal calcium concentration affect calcium release rates from triad-enriched sarcoplasmic reticulum vesicles, as well as single channel opening probability of the ryanodine receptor/calcium release channels incorporated in bilayers. The possible participation of calsequestrin, o...
journal_title:Bioscience reports
pub_type: 杂志文章,评审
doi:10.1007/BF01788370
更新日期:1995-10-01 00:00:00
abstract::The Gram-positive bacterium Staphylococcus pseudintermedius is a leading cause of canine bacterial pyoderma, resulting in worldwide morbidity in dogs. S. pseudintermedius also causes life-threatening human infections. Furthermore, methicillin-resistant S. pseudintermedius is emerging, resembling the human health threa...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20140088
更新日期:2014-11-24 00:00:00
abstract::Epidemiological studies have suggested inconclusive associations between 25-hydroxyvitamin D (25(OH)D) and survival in patients with colorectal cancer (CRC). The aim of the present study was to quantitatively assess these associations. PubMed, EMBASE, and Web of Science databases were systematically searched for eligi...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20201008
更新日期:2020-07-31 00:00:00
abstract::We have previously established a rat model of chronic uremia, which is suitable to investigate the effect of various treatment modalities on renal osteodystrophy [1]. After four months subsequent to 5/6 nephrectomy, some animals were treated by gavage for 9 weeks with tap water (controls), or with aluminium (Al-citrat...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01201001
更新日期:1996-02-01 00:00:00
abstract::Merremia vitifolia (Burm.f.) Hallier f., an ethnomedicinally important plant, used in the tribal areas to treat various ailments including fever, headache, eye inflammation, rheumatism, dysentery, jaundice and urinary diseases. The present study explored the biological efficacy of the aqueous fraction of M. vitifolia ...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1042/BSR20203022
更新日期:2021-01-29 00:00:00
abstract::In order to gain information on the metabolism of dolichol, the rates of excretion of dolichol and dolichyl phosphate were determined in rats maintained on a dolichol-free diet for 10 days. Analysis of fecal samples collected every 48 h yielded mean output values of 9.0 +/- 1.4 and 20.7 +/- 3.0 micrograms/rat/day of d...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01128818
更新日期:1984-09-01 00:00:00
abstract::A possible role for Ca2+ and calmodulin in the action of growth-hormone-releasing factor (GHRF) was investigated. Low extracellular Ca2+ (less than 100 microM), methoxyverapamil, flunarizine, cinnarizine, and Co2+ decreased both basal and GHRF-stimulated growth-hormone secretion, but did not totally inhibit GHRF-stimu...
journal_title:Bioscience reports
pub_type: 杂志文章
doi:10.1007/BF01116691
更新日期:1984-12-01 00:00:00