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https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#1
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28540032/in-vitro-hemotoxic-%C3%AE-neurotoxic-and-vasculotoxic-effects-of-the-mexican-black-tailed-rattlesnake-crotalus-molossus-nigrescens-venom
#2
David Meléndez-Martínez, Eduardo Macías-Rodríguez, Rodrigo Vázquez-Briones, Estuardo López-Vera, Martha Sandra Cruz-Pérez, Alejandra Vargas-Caraveo, Ana Gatica-Colima, Luis Fernando Plenge-Tellechea
The Mexican black-tailed rattlesnake Crotalus molossus nigrescens is distributed in the Mexican plateau. Its venom is known to cause hemolysis and presents fibrinogen coagulase, collagenase and fibrinolytic activities. These activities may be associated with hemostatic alterations, such as platelet aggregation, hemolysis and fibrinolysis, often described in ophidic accidents. However, the mechanisms of action of the C. m. nigrescens venom remain unclear. In this study we investigated the in vitro hemotoxic, neurotoxic, and vasculotoxic effects of the venom...
2017: Journal of Venom Research
https://www.readbyqxmd.com/read/28536901/increased-epithelial-free-areas-in-thymuses-with-altered-ephb-mediated-thymocyte-thymic-epithelial-cell-interactions
#3
Javier García-Ceca, Sara Montero-Herradón, David Alfaro, Agustín G Zapata
Epithelial-free areas, present in both thymic cortex and medulla, have been studied in WT and EphB-deficient mice that have important alterations in the development of thymic epithelium due to the lack of proper thymocyte-thymic epithelial cell interactions. In both WT and mutant thymuses, the number and size of epithelial-free areas are significantly larger in the medulla than in the cortex. The two parameters show a reverse correlation: low numbers of these areas course with large epithelial-free areas and vice versa...
May 24, 2017: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/28534375/effect-of-the-combination-treatment-of-high-intensity-focused-ultrasound-and-cryocare-knife-in-advanced-liver-cancer
#4
Yuan-Peng Zhai, Yan Wang
PURPOSE: To analyze the effect of the combination treatment of high-intensity focused ultrasound (HIFU) and cryocare knife in advanced liver cancer. METHODS: 74 patients with advanced liver cancer were divided into the observation group (40 cases) and the control group (34 cases). Patients in the control group were treated with simple transcatheter arterial chemoembolization (TACE), while those in the observation group were given the combination treatment of HIFU and cryocare knife...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28529699/evolution-immunity-and-the-emergence-of-brain-superautoantigens
#5
Serge Nataf
While some autoimmune disorders remain extremely rare, others largely predominate the epidemiology of human autoimmunity. Notably, these include psoriasis, diabetes, vitiligo, thyroiditis, rheumatoid arthritis and multiple sclerosis. Thus, despite the quasi-infinite number of "self" antigens that could theoretically trigger autoimmune responses, only a limited set of antigens, referred here as superautoantigens, induce pathogenic adaptive responses. Several lines of evidence reviewed in this paper indicate that, irrespective of the targeted organ (e...
2017: F1000Research
https://www.readbyqxmd.com/read/28512129/mammalian-o-mannosylation-of-cadherins-and-plexins-is-independent-of-protein-o-mannosyltransferase-1-and-2
#6
Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, Zhang Yang, Oliver J Harrison, Julia Brasch, Lawrence Shapiro, Barry Honig, Sergey Y Vakhrushev, Henrik Clausen, Adnan Halim
Protein O-mannosylation is found in yeast and metazoans and a family of conserved orthologous protein O-mannosyltransferases is believed to initiate this important post-translational modification. We recently discovered that the cadherin superfamily carries O-linked mannose (O-Man) glycans at highly conserved residues in specific extracellular cadherin domains, and it was suggested that the function of E-cadherin was dependent on the O-Man glycans. Deficiencies in enzymes catalyzing O-Man biosynthesis, including the two human protein O-mannosyltransferases, POMT1 and POMT2, underlie a subgroup of congenital muscular dystrophies (CMD) designated α-dystroglycanopathies, because deficient O-Man glycosylation of -dystroglycan disrupts laminin interaction with -dystroglycan and the extracellular matrix...
May 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28508555/laminin-and-collagen-iv-inclusion-in-immunoisolating-microcapsules-reduces-cytokine-mediated-cell-death-in-human-pancreatic-islets
#7
Alberto Llacua, Bart J de Haan, Paul de Vos
Extracellular matrix (ECM) molecules have several functions in pancreatic islets including provision of mechanical support and prevention of cytotoxicity during inflammation. During islet isolation, ECM-connections are damaged and are not restored after encapsulation and transplantation. Inclusion of specific combinations of collagen type IV and laminins in immunoisolating capsules can enhance survival of pancreatic islets. Here we investigated whether ECM can also enhance survival and lower susceptibility of human islets to cytokine-mediated cytotoxicity...
May 16, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28507327/pde3-inhibitor-and-egcg-combination-treatment-suppress-cancer-stem-cell-properties-in-pancreatic-ductal-adenocarcinoma
#8
Motofumi Kumazoe, Mika Takai, Shun Hiroi, Chieri Takeuchi, Maasa Yamanouchi, Takashi Nojiri, Hiroaki Onda, Jaehoon Bae, Yuhui Huang, Kanako Takamatsu, Shuya Yamashita, Shuhei Yamada, Kenji Kangawa, Takashi Takahashi, Hiroshi Tanaka, Hirofumi Tachibana
Recurrence following chemotherapy is observed in the majority of patients with pancreatic ductal adenocarcinoma (PDAC). Recent studies suggest that cancer stem cells (CSCs) may be involved in PDAC recurrence and metastasis. However, an efficient approach to targeting pancreatic CSCs remains to be established. Here we show that in cancer cells overexpressing the 67-kDa laminin receptor (67LR)-dependent cyclic GMP (cGMP) inducer, epigallocatechin-3-O-gallate (EGCG) and a phosphodiesterase 3 (PDE3) inhibitor in combination significantly suppressed the Forkhead box O3 and CD44 axis, which is indispensable for the CSC properties of PDAC...
May 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28507085/endothelial-basement-membrane-laminin-511-is-essential-for-shear-stress-response
#9
Jacopo Di Russo, Anna-Liisa Luik, Lema Yousif, Sigmund Budny, Hans Oberleithner, Verena Hofschröer, Juergen Klingauf, Ed van Bavel, Erik Ntp Bakker, Per Hellstrand, Anirban Bhattachariya, Sebastian Albinsson, Frederic Pincet, Rupert Hallmann, Lydia M Sorokin
No abstract text is available yet for this article.
May 15, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28506024/microrna-expression-profiling-in-endometriosis-associated-infertility-and-its-relationship-with-endometrial-receptivity-evaluated-by-ultrasound
#10
Xianfeng Xu, Zhenzhou Li, Jin Liu, Sha Yu, Zhaolian Wei
OBJECTIVE: To investigate the microRNA expression profiling in endometriosis-associate infertility, and relationship between the microRNA expression and endometrial receptivity evaluated by ultrasound. METHODS: First, miRNA expression profiling difference of ectopic endometrium between 8 endometriosis patients and 6 endometriosis-free patients were compared. Bioinformatics analyses detected 61 differentially expressed (DE) known miRNAs and 57 DE novel miRNAs. Next, other 24 patients were selected for checking the microRNAs in differential expression by RT-PCR...
May 6, 2017: Journal of X-ray Science and Technology
https://www.readbyqxmd.com/read/28498731/tissue-transglutaminase-expression-is-necessary-for-adhesion-metastatic-potential-and-cancer-stemness-of-renal-cell-carcinoma
#11
Yesim Bagatur, Ayca Zeynep Ilter Akulke, Ajna Bihorac, Merve Erdem, Dilek Telci
Tissue transglutaminase (TG2) is the ubiquitously expressed member of transglutaminase family and shown to play a critical role in the development and progression of drug resistance malignancies. We have previously showed the association of TG2 upregulation with progression and metastasis of renal cell carcinoma (RCC) and low disease-free survival. In the present study we further investigate the role of TG2 in cell adhesion, migration and invasion of RCC by silencing TG2 expression in Caki-2 and A-498 primary site and Caki-1 and ACHN metastatic site RCC cell lines...
May 12, 2017: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/28498040/pivotal-role-of-non-cardiomyocytes-in-electromechanical-and-therapeutic-potential-of-induced-pluripotent-stem-cell-derived-engineered-cardiac-tissue
#12
Hiroko Iseoka, Shigeru Miyagawa, Satsuki Fukushima, Atsuhiro Saito, Shigeo Masuda, Shin Yajima, Emiko Ito, Nagako Sougawa, Maki Takeda, Akima Harada, Jong-Kook Lee, Yoshiki Sawa
Although engineered cardiac tissues (ECTs) derived from induced pluripotent stem cells (iPSCs) are promising for myocardial regenerative therapy, the appropriate ratio of cardiomyocytes to non-cardiomyocytes is not fully understood. Here, we determined whether ECT-cell content is a key determinant of its structure/function, thereby affecting ECT therapeutic potential for advanced heart failure. Scaffold-free ECTs containing different ratios (25%, 50%, 70%, or 90%) of iPSC-derived cardiomyocytes were generated by magnetic-activated cell sorting using cardiac-specific markers...
May 12, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28497856/case-of-shift-from-linear-immunoglobulin-a-bullous-dermatosis-to-pemphigus-herpetiformis-for-a-short-period-of-time
#13
Hiroshi Koga, Norito Ishii, Takashi Hashimoto, Takekuni Nakama
Pemphigus herpetiformis (PH) is a rare variant of pemphigus characterized by erythemas and vesicles, tending to present with annular-shaped lesions. Immunologically, immunoglobulin (Ig)G deposition at the keratinocyte cell surfaces is observed. Linear IgA bullous dermatosis (LABD) is a rare subepidermal blistering disease with linear IgA deposits at the epidermal basement membrane zone (BMZ). The annular-shaped skin lesions in PH mimic clinical manifestation of other autoimmune bullous diseases, including LABD, although PH and LABD have different immunological and histopathological features...
February 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28494186/small-interference-itga6-gene-targeting-in-the-human-thymic-epithelium-differentially-regulates-the-expression-of-immunological-synapse-related-genes
#14
Daiane Cristina F Golbert, Eliane Santana-Van-Vliet, Marcelo Ribeiro-Alves, Marbella Maria B da Fonsêca, Ailin Lepletier, Daniella Arêas Mendes-da-Cruz, Guilherme Loss, Vinícius Cotta-de-Almeida, Ana Tereza R Vasconcelos, Wilson Savino
The thymus supports differentiation of T cell precursors. This process requires relocation of developing thymocytes throughout multiple microenvironments of the organ, mainly with thymic epithelial cells (TEC), which control intrathymic T cell differentiation influencing the formation and maintenance of the immunological synapse. In addition to the proteins of the major histocompatibility complex (MHC), this structure is supported by several adhesion molecules. During the process of thymopoiesis, we previously showed that laminin-mediated interactions are involved in the entrance of T-cell precursors into the thymus, as well as migration of differentiating thymocytes within the organ...
May 11, 2017: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/28488382/neuron-specific-knockdown-of-the-drosophila-fat-induces-reduction-of-life-span-deficient-locomotive-ability-shortening-of-motoneuron-terminal-branches-and-defects-in-axonal-targeting
#15
Aya Nakamura, Ryo Tanaka, Kazushige Morishita, Hideki Yoshida, Yujiro Higuchi, Hiroshi Takashima, Masamitsu Yamaguchi
Mutations in FAT4 gene, one of the human FAT family genes, have been identified in Van Maldergem syndrome (VMS) and Hennekam lymphangiectasia-lymphedema syndrome (HS). The FAT4 gene encodes a large protein with extracellular cadherin repeats, EGF-like domains and Laminin G-like domains. FAT4 plays a role in tumor suppression and planar cell polarity. Drosophila contains a human FAT4 homologue, fat. Drosophila fat has been mainly studied with Drosophila eye and wing systems. Here, we specially knocked down Drosophila fat in nerve system...
May 9, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28488337/affinity-immobilization-of-vegf-on-laminin-porous-sponge-enhances-angiogenesis-in-the-ischemic-brain
#16
Mio Oshikawa, Kei Okada, Naoko Kaneko, Kazunobu Sawamoto, Itsuki Ajioka
Ischemic brain stroke is caused by blood flow interruption, leading to focal ischemia, neuron death, and motor, sensory, and/or cognitive dysfunctions. Angiogenesis, neovascularization from existing blood vessel, is essential for tissue growth and repair. Proangiogenic therapy for stroke is promising for preventing excess neuron death and improving functional recovery. Vascular endothelial growth factor (VEGF) is a critical factor for angiogenesis by promoting the proliferation, the survival, and the migration of endothelial cells...
May 10, 2017: Advanced Healthcare Materials
https://www.readbyqxmd.com/read/28483697/preparation-and-evaluation-of-human-choroid-extracellular-matrix-scaffolds-for-the-study-of-cell-replacement-strategies
#17
Kathleen R Chirco, Kristan S Worthington, Miles J Flamme-Wiese, Megan J Riker, Joshua D Andrade, Beatrix M Ueberheide, Edwin M Stone, Budd A Tucker, Robert F Mullins
Endothelial cells (ECs) of the choriocapillaris are one of the first cell types lost during age-related macular degeneration (AMD), and cell replacement therapy is currently a very promising option for patients with advanced AMD. We sought to develop a reliable method for the production of human choroidal extracellular matrix (ECM) scaffolds, which will allow for the study of choroidal EC (CEC) replacement strategies in an environment that closely resembles the native tissue. Human RPE/choroid tissue was treated sequentially with Triton X-100, SDS, and DNase to remove all native cells...
May 5, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28483380/rac1-activation-in-podocytes-induces-the-spectrum-of-nephrotic-syndrome
#18
Richard Robins, Cindy Baldwin, Lamine Aoudjit, Jean-François Côté, Indra R Gupta, Tomoko Takano
Hyper-activation of Rac1, a small GTPase, in glomerular podocytes has been implicated in the pathogenesis of familial proteinuric kidney diseases. However, the role of Rac1 in acquired nephrotic syndrome is unknown. To gain direct insights into this, we generated a transgenic mouse model expressing a doxycycline-inducible constitutively active form of Rac1 (CA-Rac1) in podocytes. Regardless of the copy number, proteinuria occurred rapidly within five days, and the histology resembled minimal change disease...
May 5, 2017: Kidney International
https://www.readbyqxmd.com/read/28479227/limb-girdle-muscular-dystrophy-type-2i-no-correlation-between-clinical-severity-histopathology-and-glycosylated-%C3%AE-dystroglycan-levels-in-patients-homozygous-for-common-fkrp-mutation
#19
Maisoon Alhamidi, Vigdis Brox, Eva Stensland, Merete Liset, Sigurd Lindal, Øivind Nilssen
Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade. Patients homozygous for the common FKRP mutation c.826C>A (p.Leu276Ile) show phenotypes within the milder end of the clinical spectrum. However, this group also manifests substantial clinical variability. FKRP deficiency causes hypoglycosylation of α-dystroglycan; a component of the dystrophin associated glycoprotein complex...
March 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28471958/association-of-serum-levels-of-laminin-type-iv-collagen-procollagen-iii-n-terminal-peptide-and-hyaluronic-acid-with-the-progression-of-interstitial-lung-disease
#20
Yiliang Su, Hongyan Gu, Dong Weng, Ying Zhou, Qiuhong Li, Fen Zhang, Yuan Zhang, Li Shen, Yang Hu, Huiping Li
Noninvasive and convenient tests to assess pulmonary fibrosis and disease progression in interstitial lung diseases (ILDs) are currently unavailable. The extracellular matrix molecules, laminin (LN), type IV collagen (IVC), procollagen III N-terminal peptide (PIIINP), and hyaluronic acid (HA) are involved in ILD development and progression. This study aims to investigate the association of disease progression and serum levels of LN, IVC, PIIINP, and HA in patients with ILD. This retrospective study included 323 patients (162 cases of idiopathic pulmonary fibrosis [IPF] and 161 cases of connective tissue diseases ILD [CTD-ILD]) treated in Shanghai Pulmonary Hospital between January 2013 and January 2015 and 160 healthy controls...
May 2017: Medicine (Baltimore)
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