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https://www.readbyqxmd.com/read/29149498/association-between-a-single-nucleotide-polymorphism-in-the-grem1-gene-and-nonsyndromic-orofacial-cleft-in-the-chinese-population
#1
Xiaotong Wang, Hongquan Song, Xiaohui Jiao, Yanru Hao, Wei Zhang, Yuwei Gao, Yong Li, Na Mi, Jiaqun Yan
BACKGROUND: Nonsyndromic orofacial cleft (NSOC) is a common craniofacial deformity among newborns. The GREM1 gene is correlated with orofacial development. The aim of our study was to investigate the association between a single-nucleotide polymorphism in the GREM1 gene and this malformation in the Chinese population. METHODS: The SNaPshot mini sequencing technique was used to genotype the locus rs1258763 of the GREM1 gene in 331 patients with NSOC and 271 individuals in a control group...
November 17, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29137155/identification-expression-and-functional-analysis-of-the-fructokinase-gene-family-in-cassava
#2
Yuan Yao, Meng-Ting Geng, Xiao-Hui Wu, Chong Sun, Yun-Lin Wang, Xia Chen, Lu Shang, Xiao-Hua Lu, Zhan Li, Rui-Mei Li, Shao-Ping Fu, Rui-Jun Duan, Jiao Liu, Xin-Wen Hu, Jian-Chun Guo
Fructokinase (FRK) proteins play important roles in catalyzing fructose phosphorylation and participate in the carbohydrate metabolism of storage organs in plants. To investigate the roles of FRKs in cassava tuber root development, seven FRK genes (MeFRK1-7) were identified, and MeFRK1-6 were isolated. Phylogenetic analysis revealed that the MeFRK family genes can be divided into α (MeFRK1, 2, 6, 7) and β (MeFRK3, 4, 5) groups. All the MeFRK proteins have typical conserved regions and substrate binding residues similar to those of the FRKs...
November 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29130604/expanding-the-phenotypic-spectrum-of-tp63-related-disorders-including-the-first-set-of-monozygotic-twins
#3
Tara Wenger, Dong Li, Margaret H Harr, Wen-Hann Tan, Renata Pellegrino, Zornitza Stark, Hakon Hakonarson, Elizabeth J Bhoj
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29125959/proximity-labeling-spatially-resolved-proteomic-mapping-for-neurobiology
#4
REVIEW
Shuo Han, Jiefu Li, Alice Y Ting
Understanding signaling pathways in neuroscience requires high-resolution maps of the underlying protein networks. Proximity-dependent biotinylation with engineered enzymes, in combination with mass spectrometry-based quantitative proteomics, has emerged as a powerful method to dissect molecular interactions and the localizations of endogenous proteins. Recent applications to neuroscience have provided insights into the composition of sub-synaptic structures, including the synaptic cleft and inhibitory post-synaptic density...
November 7, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29103386/pituitary-adenoma-associated-with-rathke-s-cleft-cyst-report-of-15-cases
#5
Wenhao Wu, Guijun Jia, Wang Jia, Guilin Li, Junting Zhang, Liwei Zhang
OBJECTIVE: The concomitant presence of pituitary adenoma (PA) with Rathke's cleft cyst (RCC) is rare, and most of the literature published is case reports. RCC's clinicopathological features have not been well described. METHODS: We retrospectively reviewed the data of 15 patients with PA associated with RCC. We also provide a systematic review of the literature. RESULTS: The patients included males and seven females. The transsphenoidal approach was adopted for all patients except one, who underwent right frontal craniotomy...
November 6, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29098246/-clinical-effect-of-modified-alveolar-cleft-repair-with-bone-grafting
#6
Ye Wu, Fu-Ping Xie, Huan-Huan Liu, Niu Gang, Jia-Min Chen, Li-Song Lin
PURPOSE: To evaluate the clinical effect of improved alveolar cleft repair with bone grafting. METHODS: Forty one cases with alveolar cleft treated by modified operation between 2008-2016 were included. The modified techniques were as follow: incision design, preparation of bone graft bed, bone removal and bone grafting, etc. The therapeutic effect was analyzed. RESULTS: The successful rate was 92.8%. After 6-12 months of follow-up, bone graft survived well with no obvious complications...
June 2017: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
https://www.readbyqxmd.com/read/29081343/lncrna-h19-and-target-gene-mediated-cleft-palate-induced-by-tcdd
#7
Li Yun Gao, Feng Quan Zhang, Wei Hui Zhao, Guang Liang Han, Xiao Wang, Qiang Li, Shan Shan Gao, Wei Dong Wu
This study investigated the role of long non-coding RNAs (lncRNAs) in the development of the palatal tissues. Cleft palates in mice were induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). Expression levels of long non-coding RNA H19 (lncRNA H19) and insulin-like growth factor 2 (IGF2) gene were measured by quantitative real-time polymerase chain reaction (qRT-PCR). The rate of occurrence of cleft palate was found to be 100% by TCDD exposure, and TCDD could cause short upper limb, cerebral fissure, webbed neck, and short neck...
September 2017: Biomedical and Environmental Sciences: BES
https://www.readbyqxmd.com/read/29069357/annuloplasty-band-implantation-in-adults-with-partial-atrioventricular-septal-defect-a-propensity-matched-study
#8
Tianyu Zhou, Jun Li, Hao Lai, Kai Zhu, Yongxin Sun, Yongshi Wang, Wenjun Ding, Tao Hong, Chunsheng Wang
OBJECTIVES: The incidence of recurrent left atrioventricular valve (LAVV) regurgitation is generally high after repair of partial atrioventricular septal defect (AVSD). This study aimed to evaluate the effect of implanting an additional annuloplasty band into the LAVV during partial AVSD repair and to assess the late outcomes of recurrent LAVV regurgitation. METHODS: This study enrolled 133 patients who underwent repair of partial AVSD at our institution from January 2005 to December 2015...
October 24, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29065046/cell-polarity-and-par-complex-likely-to-be-involved-in-dexamethasone-induced-cleft-palate
#9
Li Ma, Bing Shi, Qian Zheng
Accumulating studies demonstrated that PAR complex contributed to the establishment and maintenance of cell polarity which was fundamental to many aspects of cell and developmental biology. The purpose of this study was to investigate whether dexamethasone (DEX) could downregulate the PAR complex and disrupt cell polarity in palatal epithelium during palatal fusion in mice. The C57BL/6J mice were selected for the experiment. Pregnant mice in control group and DEX-treated group were injected intraperitoneally with 0...
October 23, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29062005/bone-marrow-mononuclear-cells-combined-with-beta-tricalcium-phosphate-granules-for-alveolar-cleft-repair-a-12-month-clinical-study
#10
Fengzhou Du, Huanhuan Wu, Haidong Li, Lei Cai, Qian Wang, Xia Liu, Ran Xiao, Ningbei Yin, Yilin Cao
Alveolar cleft is the most common congenital bone defect. Autologous iliac crest bone graft (ICBG) is the most widely adopted procedure for alveolar cleft repair, but the condition is associated with door-site morbidities. For the first time, this study used bone marrow mononuclear cells (BMMNCs) combined with beta-tricalcium phosphate (β-TCP) granules to repair alveolar bone defect. The effectiveness of this technique was compared with autologous ICBG after 12 months of follow-up. The bone formation volume was quantitatively evaluated by three-dimensional computed tomography and computer aided engineering technology...
October 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29034883/establishment-of-a-congenital-tooth-agenesis-related-gene-msx1-knockout-human-embryonic-stem-cell-lines-by-crispr-cas9-technology
#11
Yanting Xue, Minghui Zhu, Dajiang Qin, Yongjin Li, Xiaotong Cen, Xiaofang Sun, Wenwei Lian, Baojian Liao
Human MSX1 gene is mapped to chromosome 4 and encodes a 303aa homeobox protein MSX1. MSX1 expression appears during early tooth development of vertebrate embryogenesis. Mutations in this protein are related to human tooth anomalie, cleft lip and palate and congenital ectodermal dysplasia syndrome. Most of the confirmed pathogenic mutations are located in exon2 encoded homeobox domain. Here, we report the establishment of MSX1 gene knockout human embryonic stem (hES) cell lines by CRISPR-Cas9 technology. These cell lines provide good materials for further studies of the roles MSX1 plays in human tooth development and congenital tooth agenesis...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29026807/airway-management-in-pierre-robin-sequence-the-vancouver-classification
#12
Wai-Yee Li, Alana Poon, Douglas Courtemanche, Cynthia Verchere, Sandra Robertson, Marija Bucevska, Claudia Malic, Jugpal S Arneja
BACKGROUND: Pierre Robin sequence (PRS) is a triad of micrognathia, glossoptosis, and respiratory distress. There is no standard clinical classification used in the management of neonatal airway in patients with PRS. The goal of our study was to review the presentation and management of patients with PRS and formulate a clinical grading system and treatment algorithm. METHODS: A 10-year retrospective review of all neonates diagnosed with PRS was performed after obtaining institutional ethics approval...
February 2017: Plastic Surgery
https://www.readbyqxmd.com/read/29019960/molecular-insights-into-the-potential-insecticidal-interaction-of-%C3%AE-dihydroagarofuran-derivatives-with-the-h-subunit-of-v-atpase
#13
Jielu Wei, Ding Li, Xin Xi, Lulu Liu, Ximei Zhao, Wenjun Wu, Jiwen Zhang
Celangulin V (CV), one of dihydroagarofuran sesquiterpene polyesters isolated from Chinese bittersweet (Celastrus angulatus Maxim), is famous natural botanical insecticide. Decades of research suggests that is displays excellent insecticidal activity against some insects, such as Mythimna separata Walker. Recently, it has been validated that the H subunit of V-ATPase is one of the target proteins of the insecticidal dihydroagarofuran sesquiterpene polyesters. As a continuation of the development of new pesticides from these natural products, a series of β-dihydroagarofuran derivatives have been designed and synthesized...
October 11, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28989157/-high-affinity-glutamate-transporters-and-chronic-pain
#14
Hua Zhang, Shenghong Wang, Qiqi Xie, Wenzhou Li, Weidong Shi, Jinglin Ma, Jing Wang
Glutamate serves as a major excitatory neurotransmitter in the mammalian central nervous system and is stored in synaptic cleft by an uptake system that is dependent on the high-affinity glutamate transporters (ETTAs), which locate in the plasma membrane of glial cells and neurons. ETTAs can rapidly terminate the action of glutamate and maintain its normal physiological functions. If the content or function of glutamate transporters is abnormal, it can result in many physiological dysfunctions. Studies have demonstrated that high-affinity glutamate transporters play an important role in the development of chronic pain, which might be a new therapeutic target for the pain...
September 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28978706/coat-protein-mutations-that-alter-the-flux-of-morphogenetic-intermediates-through-the-%C3%AF-x174-early-assembly-pathway
#15
Brody J Blackburn, Shuaizhi Li, Aaron P Roznowski, Alexis R Perez, Rodrigo H Villarreal, Curtis J Johnson, Margaret Hardy, Edward C Tuckerman, April D Burch, Bentley A Fane
Two scaffolding proteins orchestrate φX174 morphogenesis. The internal scaffolding protein B mediates the formation of pentameric assembly intermediates, whereas the external scaffolding protein D organizes 12 of these intermediates into procapsids. Aromatic amino acid side chains mediate most coat-internal scaffolding protein interactions. One residue in the internal scaffolding protein and three in the coat protein constitute the core of the B protein binding cleft. The three coat gene codons were randomized separately to ascertain the chemical requirements of the encoded amino acids and the morphogenetic consequences of mutation...
October 4, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28974575/insights-into-the-roles-of-non-catalytic-residues-in-the-active-site-of-a-gh10-xylanase-with-activity-on-cellulose
#16
Yindi Chu, Tao Tu, Leena Penttinen, Xianli Xue, Xiaoyu Wang, Zhuolin Yi, Li Gong, Juha Rouvinen, Huiying Luo, Nina Hakulinen, Bin Yao, Xiaoyun Su
Bifunctional glycoside hydrolases have potential for cost saving in enzymatic decomposition of plant cell wall polysaccharides for biofuels and bio-based chemicals. The N-terminal GH10 domain of a bifunctional multimodular enzyme CbXyn10C/Cel48B from Caldicellulosiruptor bescii, is an enzyme able to degrade xylan and cellulose simultaneously. However, the molecular mechanism underlying its substrate promiscuity has not been elucidated. Herein, we discovered that the binding cleft of CbXyn10C would have at least six sugar binding subsites by using isothermal titration calorimetry analysis of the inactive E140Q/E248Q mutant with xylo- and cellooligosaccharides...
October 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28945736/rapid-functional-analysis-of-computationally-complex-rare-human-irf6-gene-variants-using-a-novel-zebrafish-model
#17
Edward B Li, Dawn Truong, Shawn A Hallett, Kusumika Mukherjee, Brian C Schutte, Eric C Liao
Large-scale sequencing efforts have captured a rapidly growing catalogue of genetic variations. However, the accurate establishment of gene variant pathogenicity remains a central challenge in translating personal genomics information to clinical decisions. Interferon Regulatory Factor 6 (IRF6) gene variants are significant genetic contributors to orofacial clefts. Although approximately three hundred IRF6 gene variants have been documented, their effects on protein functions remain difficult to interpret. Here, we demonstrate the protein functions of human IRF6 missense gene variants could be rapidly assessed in detail by their abilities to rescue the irf6 -/- phenotype in zebrafish through variant mRNA microinjections at the one-cell stage...
September 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28944239/analysis-of-sequence-data-to-identify-potential-risk-variants-for-oral-clefts-in-multiplex-families
#18
Emily R Holzinger, Qing Li, Margaret M Parker, Jacqueline B Hetmanski, Mary L Marazita, Elisabeth Mangold, Kerstin U Ludwig, Margaret A Taub, Ferdouse Begum, Jeffrey C Murray, Hasan Albacha-Hejazi, Khalid Alqosayer, Giath Al-Souki, Abdullatiff Albasha Hejazi, Alan F Scott, Terri H Beaty, Joan E Bailey-Wilson
BACKGROUND: Nonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. Previous genome-wide association (GWAS) studies have identified multiple loci with small effects; however, many causal variants remain elusive. METHODS: In this study, we address this by specifically looking for rare, potentially damaging variants in family-based data...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28943401/crystal-structure-of-l-glutamate-n-acetyltransferase-arga-from-mycobacterium-tuberculosis
#19
Xiuna Yang, Lijie Wu, Yajun Ran, Ao Xu, Bing Zhang, Xiaolin Yang, Rongguang Zhang, Zihe Rao, Jun Li
l-arginine is used as a source of both carbon and nitrogen in Mycobacterium tuberculosis (Mtb) and its biosynthesis is essential for the pathogen's survival. MtbArgA (Rv2747) catalyzes the initial step in l-arginine biosynthesis by transferring an acetyl group from acetyl coenzyme A (AcCoA) to l-glutamate. MtbArgA is a class III N-acetylglutamate synthase (NAGS) with no structural information. Here, we solved the crystal structure of MtbArgA complexed with AcCoA and l-glutamate. The overall structure adopts a classic fold of the GCN5-related N-acetyltransferase (GNAT) family, characterized by a "V"-shaped cleft and β-bulge, but uses distinct residues for the binding and reaction of AcCoA...
September 22, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28939839/structural-insights-into-the-substrate-binding-adaptability-and-specificity-of-human-o-glcnacase
#20
Baobin Li, Hao Li, Chia-Wei Hu, Jiaoyang Jiang
The O-linked β-N-acetyl glucosamine (O-GlcNAc) modification dynamically regulates the functions of numerous proteins. A single human enzyme O-linked β-N-acetyl glucosaminase (O-GlcNAcase or OGA) hydrolyzes this modification. To date, it remains largely unknown how OGA recognizes various substrates. Here we report the structures of OGA in complex with each of four distinct glycopeptide substrates that contain a single O-GlcNAc modification on a serine or threonine residue. Intriguingly, these glycopeptides bind in a bidirectional yet conserved conformation within the substrate-binding cleft of OGA...
September 22, 2017: Nature Communications
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