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https://www.readbyqxmd.com/read/28489749/association-between-pax7-and-ntn1-gene-polymorphisms-and-nonsyndromic-orofacial-clefts-in-a-northern-chinese-population
#1
Qiang Guo, Dongmei Li, Xiangbiao Meng, Tingting Liu, Jinna Shi, Yanru Hao, Xiaohui Jiao, Kewen Lv, Tenglong Hu, Tao Song
BACKGROUND: Nonsyndromic orofacial clefts (NSOC) are the most common orofacial congenital defect with a complex etiology. Genome-wide association studies have identified paired box protein 7 (PAX7) and netrin-1 (NTN1) as candidate susceptibility genes for NSOC in both European and Asian populations. Here, possible associations between single-nucleotide polymorphisms (SNPs) in or near PAX7 and NTN1 were investigated in relation to risk of NSOC in a northern Chinese population. METHODS: A total of 602 individuals with NSOC and 510 controls were recruited from northern China...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28486600/sclt1-deficiency-causes-cystic-kidney-by-activating-erk-and-stat3-signaling
#2
Jianshuang Li, Di Lu, Huadie Liu, Bart O Williams, Paul A Overbeek, Brendan Lee, Ling Zheng, Tao Yang
Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate, and polydactyly...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28479293/crystal-structure-and-biological-implications-of-a-glycoside-hydrolase-family-55-%C3%AE-1-3-glucanase-from-chaetomium-thermophilum
#3
Anastassios C Papageorgiou, Jinyin Chen, Duochuan Li
Crystal structures of a β-1,3-glucanase from the thermophilic fungus Chaetomium thermophilum were determined at 1.20 and 1.42Å resolution in the free and glucose-bound form, respectively. This is the third structure of a family 55 glycoside hydrolase (GH55) member and the second from a fungus. Based on comparative structural studies and site-directed mutagenesis, Glu654 is proposed as the catalytic acid residue. The substrate binding cleft exhibits restricted access on one side, rendering the enzyme as an exo-β-1,3-glucanase as confirmed also by thin layer chromatography experiments...
May 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28471735/clinical-finding-and-management-of-12-orofacial-clefts-cases-with-nevoid-basal-cell-carcinoma-syndrome
#4
Lee Mui Lee, Lian Ma, Tie Jun Li
Objective  To study the phenotype and overview the clinical management on Cleft Lip and/or Palate (CL/P) with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) patients in Peking University School and Hospital of Stomatology. Design  Case series study. Main Outcome Measures  To describe the clinical phenotype of 12 CL/P with NBCCS patients who fulfilled the diagnostic criteria as well as to explore clinical management. Results  Seven cases (7/12, 58.33%) were classified as bilateral complete cleft lip and palate (BCCLP)...
May 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28452574/water-transport-through-the-intestinal-epithelial-barrier-under-different-osmotic-conditions-is-dependent-on-li-cadherin-trans-interaction
#5
Agnes Weth, Carsten Dippl, Yasmin Striedner, Irene Tiemann-Boege, Yana Vereshchaga, Nikola Golenhofen, Britta Bartelt-Kirbach, Werner Baumgartner
In the intestine water has to be reabsorbed from the chymus across the intestinal epithelium. The osmolarity within the lumen is subjected to high variations meaning that water transport often has to take place against osmotic gradients. It has been hypothesized that LI-cadherin is important in this process by keeping the intercellular cleft narrow facilitating the buildup of an osmotic gradient allowing water reabsorption. LI-cadherin is exceptional among the cadherin superfamily with respect to its localization along the lateral plasma membrane of epithelial cells being excluded from adherens junction...
January 24, 2017: Tissue Barriers
https://www.readbyqxmd.com/read/28437266/gelfoam-interposition-minimizes-risk-of-fistula-and-postoperative-bleeding-in-modified-furlow-palatoplasty
#6
Jing Li, Patrick A Gerety, James Johnston, Jesse A Taylor
Failure to accomplish a tension-free, watertight closure predisposes the palatoplasty patient to fistula formation. Perioperative bleeding also places the patient at risk for adverse airway events (AAE). This study introduces the incorporation of a hemostatic gelatin sponge (Gelfoam) into layered palatoplasty to minimize adverse postoperative bleeding and fistula formation. A retrospective chart review was performed to identify subjects who underwent Furlow palatoplasty with insertion of Gelfoam from 2010 to 2015...
April 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28431235/improving-surgeons-comfort-with-prismatic-glasses-during-cleft-palate-surgery-preliminary-findings
#7
Hai Kuang, Guosheng Chen, Qitao Wen, Shuai Li, Lei Che, Feixin Liang
PURPOSE: We aimed to observe the effect of prismatic glasses on improving surgeons' comfort during cleft palate surgery. MATERIALS AND METHODS: A within-subjects design was used. We included 3 oral-maxillofacial surgeons and 6 patients with complete cleft palate in the study. One group of cleft palate patients (3 complete cleft palates) was allocated to each of the 3 surgeons not wearing prismatic glasses, and another similar group of cleft palate patients was allocated to the same 3 surgeons wearing prismatic glasses...
March 27, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28424519/mechanism-of-chromatin-remodelling-revealed-by-the-snf2-nucleosome-structure
#8
Xiaoyu Liu, Meijing Li, Xian Xia, Xueming Li, Zhucheng Chen
Chromatin remodellers are helicase-like, ATP-dependent enzymes that alter chromatin structure and nucleosome positions to allow regulatory proteins access to DNA. Here we report the cryo-electron microscopy structure of chromatin remodeller Switch/sucrose non-fermentable (SWI2/SNF2) from Saccharomyces cerevisiae bound to the nucleosome. The structure shows that the two core domains of Snf2 are realigned upon nucleosome binding, suggesting activation of the enzyme. The core domains contact each other through two induced Brace helices, which are crucial for coupling ATP hydrolysis to chromatin remodelling...
April 19, 2017: Nature
https://www.readbyqxmd.com/read/28422190/current-carried-by-the-slc26-family-member-prestin-does-not-flow-through-the-transporter-pathway
#9
Jun-Ping Bai, Iman Moeini-Naghani, Sheng Zhong, Fang-Yong Li, Shumin Bian, Fred J Sigworth, Joseph Santos-Sacchi, Dhasakumar Navaratnam
Prestin in the lateral membrane of outer hair cells, is responsible for electromotility (EM) and a corresponding nonlinear capacitance (NLC). Prestin's voltage sensitivity is influenced by intracellular chloride. A regulator of intracellular chloride is a stretch-sensitive, non-selective conductance within the lateral membrane, GmetL. We determine that prestin itself possesses a stretch-sensitive, non-selective conductance that is largest in the presence of thiocyanate ions. This conductance is independent of the anion transporter mechanism...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28413147/branchial-cleft-cyst-an-unusual-site-for-the-cervical-metastasis-of-nasopharyngeal-carcinoma
#10
Yu-Chang Liao, Mohamad Adel, Li-Yu Lee, Kai-Ping Chang
OBJECTIVE: Cancers found in the resected branchial cleft cyst are rare clinically but usually impose substantive diagnostic and treatment challenges for clinicians. METHODS: A 31-year-old man presented with a lateral neck mass that was suspected to be an inflammatory branchial cleft cyst. After excision, the pathologic specimen revealed a benign cystic appearance with a focus of undifferentiated carcinoma. Serologic tests for Epstein-Barr virus were negative. A positron emission tomography scan and upper aerodigestive tract endoscopies were negative for any other suspicious lesion...
April 13, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28412278/disruption-of-glutamate-neurotransmitter-transmission-is-modulated-by-snap-25-in-benzo-a-pyrene-induced-neurotoxic-effects
#11
Kai Yang, Xuejun Jiang, Qiuping Su, Jing Wang, Chunlin Li, Yinyin Xia, Shuqun Cheng, Qizhong Qin, Xianqing Cao, Chengzhi Chen, Baijie Tu
Benzo[a]pyrene (B[a]P), a ubiquitous chemical contaminant in the environment, is a well-established neurotoxicant to human. However, the molecular mechanisms for B[a]P neurotoxicity are still unclear. In the present study, after treating Sprague-Dawley rats with 0.02, 0.2 and 2.0mg/kg/day B[a]P for 7 weeks [from postnatal day (PND) 5 to PND54], our results showed that B[a]P exposure caused a significant deficits in learning and memory function. By using U87 cells as in vitro model, the significant cytotoxicity and the induction of apoptosis caused by B[a]P were further verified...
April 18, 2017: Toxicology
https://www.readbyqxmd.com/read/28403008/a-new-design-for-reconstruction-about-nasal-dimensions-during-the-primary-repair-of-unilateral-cleft-lip
#12
Ren-Kai Liu, Cheng-Hao Li, Jiayu Shi, Bing Shi
No abstract text is available yet for this article.
February 15, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28383424/polymorphic-variants-in-vax1-and-the-risk-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-a-population-from-northern-china
#13
Dongmei Li, Tingting Liu, Xiangbiao Meng, Qiang Guo, Jinna Shi, Yanru Hao, Xiaohui Jiao, Kewen Lv, Tao Song
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects, and the etiology of NSCL/P involves both genetic and environmental factors. Genome-wide association study (GWAS) identified a novel susceptibility locus of ventral anterior homeobox 1 (VAX1) in patients with NSCL/P. However, the association of single nucleotide polymorphisms (SNPs) of VAX1 with NSCL/P is inconclusive due to the differences in the racial and ethnic populations...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28363736/systems-biology-of-facial-development-contributions-of-ectoderm-and-mesenchyme
#14
Joan E Hooper, Weiguo Feng, Hong Li, Sonia M Leach, Tzulip Phang, Charlotte Siska, Kenneth L Jones, Richard A Spritz, Lawrence E Hunter, Trevor Williams
The rapid increase in gene-centric biological knowledge coupled with analytic approaches for genomewide data integration provides an opportunity to develop systems-level understanding of facial development. Experimental analyses have demonstrated the importance of signaling between the surface ectoderm and the underlying mesenchyme are coordinating facial patterning. However, current transcriptome data from the developing vertebrate face is dominated by the mesenchymal component, and the contributions of the ectoderm are not easily identified...
March 29, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28326722/-application-of-team-approach-and-key-techniques-of-cleft-lip-and-palate
#15
Shi Bing, Fu Yuchuan, Yin Ningbei, Huang Hong-Zhang, Liu Jianhua, Chen Renji, Zhu Hongping, Liu Qiang, Huang Yongqing, Ren Zhanping, Lu Yong, Xiao Wenlin, Song Qinggao, Li Wanshan, Li Sheng, Wang Hongtao, Zhang Junrui, Jiang Liping, Ma Li, Wang Ling, He Dengqi
The development of an expert consensus based on specific domestic situations will provide practical guidance to the efforts aiming at improving cleft care in China. The team approach of twenty-one cleft centers were pooled together, covering pre-surgical orthopedics, primary surgical repair, orthodontic treatment, alveolar bone graft, secondary deformity correction, palatal fistulae repair, the diagnosis and treatment of velopharyngeal incompetence, speech therapy, otitis media management, and skeletal deformity correction...
February 1, 2017: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28326707/-morphological-classification-and-velopharyngeal-function-analysis-of-submucous-cleft-palate-patients
#16
Yin Heng, Guo Chunli, Shi Bing, Li Yang, Li Jingtao
OBJECTIVE: To enhance the accuracy in diagnosis and management of submucous cleft palate via a thorough analysis of its anatomical and functional details. METHODS: Two hundred seventy-six submucous cleft palate cases from 2008 to 2014 were retrospectively investigated. Subgroup analysis were performed on the basis of preoperative velopharyngeal function, palatal morphology, cleft lip concurrence, and patient motives for treatment. RESULTS: Among the included cases, 96 (34...
October 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28319083/structures-of-human-o-glcnacase-and-its-complexes-reveal-a-new-substrate-recognition-mode
#17
Baobin Li, Hao Li, Lei Lu, Jiaoyang Jiang
Human O-GlcNAcase (hOGA) is the unique enzyme responsible for the hydrolysis of the O-linked β-N-acetyl glucosamine (O-GlcNAc) modification, an essential protein glycosylation event that modulates the function of numerous cellular proteins in response to nutrients and stress. Here we report crystal structures of a truncated hOGA, which comprises the catalytic and stalk domains, in apo form, in complex with an inhibitor, and in complex with a glycopeptide substrate. We found that hOGA forms an unusual arm-in-arm homodimer in which the catalytic domain of one monomer is covered by the stalk domain of the sister monomer to create a substrate-binding cleft...
April 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28317355/-three-dimensional-analysis-of-alveolar-changes-of-complete-unilateral-cleft-lip-patients-after-presurgical-nasoalveolar-molding-treatment
#18
Li Hongyi, Kuang Hai, Wang Xiaomeng, Li Dongshuang
OBJECTIVE: This study analyzed the alveolar changes of complete unilateral cleft lip (UCCL) patients after pre-surgical nasoalveolar molding (PNAM) treatment using a three-dimensional method. METHODS: Palate impressions of thirty UCCL patients who underwent PNAM treatment in the Affiliated Stomatology Hospital of Guangxi Medical University were taken pre- and post-PNAM. The plaster impressions were scanned using cone beam computed tomography (CBCT). The DICOM files were exported and 3D models reconstructed in Mimics 15...
August 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28304389/manifestation-and-grading-of-ocular-involvement-in-patients-with-tessier-number-10-clefts
#19
C Shao, W Lu, J Li, J Chen, Q Yao, X Fan, Y Fu
PurposeThe objective of this study is to evaluate and grade the extent and severity of ocular involvement in Tessier number 10 cleft.Patients and methodsA retrospective, noncomparative, interventional case series was conducted between January 2006 and December 2015. Clinical data were reviewed from 59 patients (85 eyes) with Tessier number 10 clefts. Detailed medical history and ophthalmic examination of patients with a confirmed diagnosis of Tessier number 10 cleft were recorded on an itemized data collection form...
March 17, 2017: Eye
https://www.readbyqxmd.com/read/28296686/sternal-development-and-variations-and-anomalies-in-patients-with-microtia-evaluation-using-3-dimensional-computed-tomography
#20
MeiRong Yang, Haiyue Jiang, Xiaobo Yu, Weiwei Chen, Qingsong Li, Ye Zhang, Bo Pan
OBJECTIVE: The objectives of this study were to evaluate sternal development and variations in patients with microtia and to identify the incidence of congenital sternal anomalies and then to investigate the interaction between microtia and sternal anomalies. METHODS: A total of 212 consecutive patients received a preoperative 3-dimensional chest computed tomography. A retrospective study was performed with the clinical and imaging data from November 2014 to July 2015...
March 15, 2017: Journal of Computer Assisted Tomography
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