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https://www.readbyqxmd.com/read/28930843/clinical-characteristics-of-a-kif21a-mutation-in-a-chinese-family-with-congenital-fibrosis-of-the-extraocular-muscles-type-1
#1
Huiqiong Chen, Tangbing Liu, Zhenhai Zeng, Yufei Wang, Yuanyuan Lin, Lulu Cheng, Qintuo Pan, Feng Gu, Zongming Song, Zongduan Zhang
The aim of the study is to characterize the clinical ocular phenotype with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and to confirm whether the kinesin family member 21A (KIF21A) mutation was the pathogenic gene in this Chinese family.Three affected individuals and 2 asymptomatic kinsfolk from a Chinese family underwent comprehensive ophthalmic examinations, orbital computerized tomography (CT), and postoperative histological examinations were performed in the proband. All the recruited members were screened for 3 exons (8, 20, and 21) of KIF21A mutations using the polymerase chain reaction (PCR) amplification and direct sequencing of corresponding PCR products...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28929581/gain-of-function-mutation-in-ptpn11-in-histiocytic-sarcomas-of-bernese-mountain-dogs
#2
T Thaiwong, S Sirivisoot, M Takada, V Yuzbasiyan-Gurkan, M Kiupel
Histiocytic sarcoma (HS) is an aggressive malignant neoplasm of dendritic cell origin that is common in certain breeds of dogs. High prevalence of fatal, disseminated HS has been described in Bernese Mountain Dogs (BMDs). Support for genetic predisposition to develop HS has been presented in several studies, but to date, causative genetic events have not been reported. In addition, no driver mutations have been identified in tumours. Recently, E76K gain-of-function mutation in SHP2 encoded by the PTPN11 gene has been described in human histiocytic malignancies...
September 20, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28929491/capecitabine-based-treatment-of-a-patient-with-a-novel-dpyd-genotype-and-complete-dihydropyrimidine-dehydrogenase-deficiency
#3
Linda M Henricks, Ester J Siemerink, Hilde Rosing, Judith Meijer, Susan M Goorden, Abeltje M Polstra, Lida Zoetekouw, Annemieke Cats, Jan H Schellens, André B van Kuilenburg
Fluoropyrimidines are frequently used anti-cancer drugs. It is known that patients with reduced activity of dihydropyrimidine dehydrogenase (DPD), the key metabolic enzyme in fluoropyrimidine inactivation, are at increased risk of developing severe fluoropyrimidine-related toxicity. Upfront screening for DPD deficiency and dose reduction in patients with partial DPD deficiency is recommended and improves patient safety. For patients with complete DPD deficiency, fluoropyrimidine-treatment has generally been discouraged...
September 20, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28928816/analysis-of-long-non-coding-rna-expression-profiles-in-clear-cell-renal-cell-carcinoma
#4
Fei Yan Yang, Yan Wang, Jian Guo Wu, Shao Li Song, Gang Huang, Wei Min Xi, Li Ling Tan, Jian Wang, Qing Cao
To investigate the expression patterns of long non-coding RNAs (lncRNAs) in clear cell renal cell carcinoma (ccRCC) and in metastatic renal cell carcinoma (RCC), the present study downloaded three human exon arrays available from the public Gene Expression Omnibus. The probes of the human exon arrays were re-annotated and the probes uniquely mapping to lncRNAs were retained at the gene level. Following the analysis of GSE53757 and GSE46699, which contained paired ccRCC cancer and normal adjacent tissue samples, 32 differentially expressed lncRNAs (adjusted P<0...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28928763/comparative-mapping-and-candidate-gene-analysis-of-ssiia-associated-with-grain-amylopectin-content-in-barley-hordeum-vulgare-l
#5
Xiangyun Fan, Juan Zhu, Wenbin Dong, Yuandong Sun, Chao Lv, Baojian Guo, Rugen Xu
Amylopectin concentration in barley endosperm has important effects on grain quality and end-use. In this study, quantitative trait locus (QTL) analysis together with genome-wide association studies (GWAS) were performed to identify markers linked to grain amylopectin content respectively using a doubled haploid (DH) population of 178 lines and a collection of 185 diverse barley germplasms both genotyped by genotyping-by-sequencing (GBS). A stable QTL on chromosome 7H and 11 associated single nucleotide polymorphisms (SNPs) were detected...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28928627/a-novel-truncation-mutation-in-crybb1-associated-with-autosomal-dominant-congenital-cataract-with-nystagmus
#6
Yan Rao, Sufang Dong, Zuhua Li, Guohua Yang, Chunyan Peng, Ming Yan, Fang Zheng
PURPOSE: To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible molecular mechanism underlying the role of the candidate genes in cataractogenesis. METHODS: We combined the linkage analysis and direct sequencing for the candidate genes in the linkage regions to identify the causative mutation. The molecular and bio-functional properties of the proteins encoded by the candidate genes was further explored with biophysical and biochemical studies of the recombinant wild-type and mutant proteins...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28927886/tnfrsf1a-and-mefv-mutations-in-childhood-onset-multiple-sclerosis
#7
Astrid Blaschek, Rüdiger V Kries, Peter Lohse, Kristina Huss, Katharina Vill, Bernd H Belohradsky, Florian Heinen, Wolfgang Müller-Felber, Tania Kümpfel
To investigate frequency and phenotype of TNFRSF1A and MEFV mutations in childhood-onset multiple sclerosis (MS). Twenty-nine clinically well characterized patients were investigated for mutations in exons 2, 3, 4, and 6 of the TNFRSF1A gene and in exons 2, 3, 9, 10 of the MEFV gene. Standardized morbidity ratio (SMR) was used to assess whether the number of observed mutations was higher than expected. Eleven out of 29 patients tested positive for mutations. Heterozygosity for the TNFRSF1A R92Q (rs4149584) variant was found in 6/11 mutation-positive patients...
September 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28927745/apolipoprotein-m-gene-single-nucleotide-polymorphisms-discovery-in-patients-with-chronic-obstructive-pulmonary-disease-and-determined-by-the-base-quenched-probe-technique
#8
Yang Yu, Jun Zhang, Yingying Qiao, Lili Pan, Juzhang Li, Huihui Mao, Jiang Wei, Xiaoying Zhang, Ning Xu, Guanghua Luo
BACKGROUND: It has been reported increased serum apoM levels seen in the patients suffered from obstructive sleep apnoea and chronic obstructive pulmonary diseases. In the present, we further examine the prevalence of apoM gene SNPs in COPD patients. And a new method base-quenched probe technique is established. METHODS: In the present study, we first used the Roche 454 GS Junior high-throughput sequencer to analyze 6 COPD samples and 6 control samples, in these samples we found 3 interesting SNPs (rs805264, rs707922 and rs707921) and then we designed primers and probes to establish a simple and quick screening method that is a base-quench probe technique and the genotype was confirmed by melting curves...
September 16, 2017: Gene
https://www.readbyqxmd.com/read/28927534/alternative-rna-splicing-and-gastric-cancer
#9
REVIEW
Ying Li, Yuan Yuan
Alternative splicing (AS) linked to diseases, especially to tumors. Recently, more and more studies focused on the relationship between AS and gastric cancer (GC). This review surveyed the hot topic from four aspects: First, the common types of AS in cancer, including exon skipping, intron retention, mutually exclusive exon, alternative 5 ' or 3' splice site, alternative first or last exon and alternative 3' untranslated regions. Second, basic mechanisms of AS and its relationship with cancer. RNA splicing in eukaryotes follows the GT-AG rule by both cis-elements and trans-acting factors regulatory...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28927238/factor-v-leiden-is-associated-with-increased-sperm-count
#10
T E van Mens, U N Joensen, Z Bochdanovits, A Takizawa, J Peter, N Jørgensen, P B Szecsi, J C M Meijers, H Weiler, E Rajpert-De Meyts, S Repping, S Middeldorp
STUDY QUESTION: Is the thrombophilia mutation factor V Leiden (FVL) associated with an increased total sperm count? SUMMARY ANSWER: Carriers of FVL have a higher total sperm count than non-FVL-carriers, which could not be explained by genetic linkage or by observations in a FVL-mouse model. WHAT IS KNOWN ALREADY: FVL has a high prevalence in Caucasians despite detrimental health effects. Carriers have been shown to have higher fecundity, which might partly explain this evolutionary paradox...
September 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28927152/expression-levels-of-fgfr3-as-a-prognostic-marker-for-the-progression-of-primary-pt1-bladder-cancer-and-its-association-with-mutation-status
#11
Ho Won Kang, Ye-Hwan Kim, Pildu Jeong, Cheol Park, Won Tae Kim, Dong Hee Ryu, Eun-Jong Cha, Yun-Sok Ha, Tae-Hwan Kim, Tae Gyun Kwon, Sung-Kwon Moon, Yung Hyun Choi, Seok-Joong Yun, Wun-Jae Kim
The present study examined the utility of fibroblast growth factor receptor 3 (FGFR3) mutation status and gene expression as a prognostic marker in primary pT1 bladder cancer (BC). A total of 120 patients with primary pT1 BC were enrolled. FGFR3 mutation status was determined by direct sequencing and FGFR3 mRNA expression level was determined by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) analysis. The results were compared with the clinicopathological parameters, and the prognostic value of FGFR3 was evaluated by Kaplan-Meier analysis and a multivariate Cox regression test...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28927118/mutations-in-braf-codons-594-and-596-predict-good-prognosis-in-melanoma
#12
Xiaowen Wu, Junya Yan, Jie Dai, Meng Ma, Huan Tang, Jiayi Yu, Tianxiao Xu, Huan Yu, Lu Si, Zhihong Chi, Xinan Sheng, Chuanliang Cui, Yan Kong, Jun Guo
B-Raf proto-oncogene serine/threonine kinase (BRAF) V600E is the most common kinase-activating mutation and is associated with poor prognosis in melanoma. However, the clinical significance of kinase-impairing mutations remains unclear. The present study aimed to analyze kinase-impairing mutations in BRAF codons 594 and 596 in non-Caucasian patients with melanoma and to investigate their possible clinical significance. To detect hotspot mutations, exon 15 of the BRAF gene was amplified using polymerase chain reaction in samples from 1,554 patients with melanoma...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28926139/the-synonymous-nucleotide-substitution-rhd-1056c-g-alters-mrna-splicing-associated-with-serologically-weak-d-phenotype
#13
Sejong Chun, Jae Won Yun, Geon Park, Duck Cho
BACKGROUND: D antigen is one of the most clinically significant blood group antigens. Variation of the RHD gene can cause weak D or partial D phenotypes. While most variations are missense substitutions with amino acid changes, those without are called "silent" or "synonymous" substitutions. Synonymous substitutions often have little effect on the protein, not altering the phenotype. However, effect on splicing can affect end-product protein. We report a new synonymous variation, RHD 1056C>G, that resulted in weak D phenotype, and predicted its effect with various in silico methods...
September 19, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28925361/generation-of-a-homozygous-gba-deletion-human-embryonic-stem-cell-line
#14
Anna Lisa Gündner, Claas Aiko Meyer, Stefan Aigner, Klaus Christensen, Christoph Patsch, Ravi Jagasia, Karlheinz Baumann, Mark Burcin
We describe the generation of a biallelic GBA deletion human embryonic stem cell line using zinc finger nuclease-mediated gene targeting. The homozygous targeting of exon 4 of the GBA locus leads to a complete loss of glucocerebrosidase (GCase) protein expression.
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28925083/selective-knockout-of-astrocytic-na-h-exchanger-isoform-1-reduces-astrogliosis-bbb-damage-infarction-and-improves-neurological-function-after-ischemic-stroke
#15
Gulnaz Begum, Shanshan Song, Shaoxia Wang, Hanshu Zhao, Mohammad Iqbal H Bhuiyan, Eric Li, Rachel Nepomuceno, Qing Ye, Ming Sun, Michael Joseph Calderon, Donna B Stolz, Claudette St Croix, Simon C Watkins, Yinhuai Chen, Pingnian He, Gary E Shull, Dandan Sun
Stimulation of Na(+) /H(+) exchanger isoform 1 (NHE1) in astrocytes causes ionic dysregulation under ischemic conditions. In this study, we created a Nhe1(flox/flox) (Nhe1(f/f) ) mouse line with exon 5 of Nhe1 flanked with two loxP sites and selective ablation of Nhe1 in astrocytes was achieved by crossing Nhe1(f/f) mice with Gfap-Cre(ERT2) Cre-recombinase mice. Gfap-Cre(ERT2+/-) ;Nhe1(f/f) mice at postnatal day 60-90 were treated with either corn oil or tamoxifen (Tam, 75 mg/kg/day, i.p.) for 5 days. After 30 days post-injection, mice underwent transient middle cerebral artery occlusion (tMCAO) to induce ischemic stroke...
September 19, 2017: Glia
https://www.readbyqxmd.com/read/28924541/the-lrp1-gene-polymorphism-is-associated-with-increased-risk-of-metabolic-syndrome-prevalence-in-the-serbian-population
#16
N Vučinić, E Stokić, I Djan, D Obreht, N Veličković, K Stankov, M Djan
The determination of genetic background in metabolic syndrome (MetS) represents one of the necessary steps to prevent the disorder, thus reducing the cost of medical treatments and helping to design targeted therapy. The study explores the association between individual alleles of the LRP1 gene and the diagnosis of MetS to find correlation between the low-density lipoprotein receptor-related (LRP1) gene polymorphism and each individual anthropometric and biochemical parameter. The study included 93 males and females, aged from 19 to 65, divided into two groups...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#17
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28924418/optical-coherence-tomography-findings-and-successful-repair-of-retina-detachment-in-knobloch-syndrome
#18
Nazanin Ebrahimiadib, Bobeck S Modjtahedi, Kevin Ferenchak, Thanos D Papakostas, Jason S Mantagos, Demetrios G Vavvas
A 7-year-old Afghani girl was referred to the retina clinic of Massachusetts Eye and Ear for a chronic-appearing, macula-off retinal detachment in the left eye. On examination, best-corrected visual acuity was 20/400 in the right eye and 20/800 in the left eye. She had bilateral horizontal nystagmus. Ophthalmoscopy revealed prominent choroidal vessels, chorioretinal atrophy in the macular area, attenuated retinal vasculature, and pale optic discs bilaterally. Spectral domain optical coherence tomography demonstrated atrophy of the choriocapillaris and the retinal pigment epithelium, retinal thinning, and abnormal foveal contour...
2017: Digital Journal of Ophthalmology: DJO
https://www.readbyqxmd.com/read/28924281/molecular-basi-of-superoxide-dismutase-alterations-in-spirometry-proven-bronchial-asthma
#19
Syed Hafeezul Hassan, Rubina Ghani, Muhammad Sarwar
OBJECTIVE: To study alterations in superoxide dismutase at molecular level in spirometry-proven bronchial asthma. METHODS: This pilot study was conducted at Baqai Medical University Hospital, Karachi, from June to December 2013, and comprised spirometry-proven asthmatics. The allele frequencies of missense polymorphisms of the exon-intron of a superoxide dismutase, copper-zinc superoxide dismutase were included in the analysis and compared with their age- and gender-matched healthy controls...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924228/an-expanded-role-for-heterozygous-mutations-of-abcb4-abcb11-atp8b1-abcc2-and-tjp2-in-intrahepatic-cholestasis-of-pregnancy
#20
Peter H Dixon, Melissa Sambrotta, Jennifer Chambers, Pamela Taylor-Harris, Argyro Syngelaki, Kypros Nicolaides, A S Knisely, Richard J Thompson, Catherine Williamson
Intrahepatic cholestasis of pregnancy (ICP) affects 1/140 UK pregnancies; with pruritus, hepatic impairment and elevated serum bile acids. Severe disease is complicated by spontaneous preterm delivery and stillbirth. Previous studies have reported mutations in hepatocellular transporters (ABCB4, ABCB11). High throughput sequencing in 147 patients was performed in the transporters ABCB4, ABCB11, ATP8B1, ABCC2 and tight junction protein 2 (TJP2). Twenty-six potentially damaging variants were identified with the following predicted protein changes: Twelve ABCB4 mutations - Arg47Gln, Met113Val, Glu161Gly, Thr175Ala, Glu528Glyfs*6, Arg590Gln, Ala601Ser, Glu884Ter, Gly722Ala, Tyr775Met (x2), Trp854Ter...
September 18, 2017: Scientific Reports
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