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https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#1
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28760865/dystroglycan-maintains-inner-limiting-membrane-integrity-to-coordinate-retinal-development
#2
Reena Clements, Rolf Turk, Kevin P Campbell, Kevin M Wright
Proper neural circuit formation requires the precise regulation of neuronal migration, axon guidance and dendritic arborization. Mutations affecting the function of the transmembrane glycoprotein dystroglycan cause a form of congenital muscular dystrophy that is frequently associated with neurodevelopmental abnormalities. Despite its importance in brain development, the role for dystroglycan in regulating retinal development remains poorly understood. Using a mouse model of dystroglycanopathy (ISPD(L79*) ) and conditional dystroglycan mutants of both sexes, we show that dystroglycan is critical for the proper migration, axon guidance and dendritic stratification of neurons in the inner retina...
July 31, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28688748/congenital-muscular-dystrophies-in-the-uk-population-clinical-and-molecular-spectrum-of-a-large-cohort-diagnosed-over-a-12-year-period
#3
Maria Sframeli, Anna Sarkozy, Marta Bertoli, Guja Astrea, Judith Hudson, Mariacristina Scoto, Rachael Mein, Michael Yau, Rahul Phadke, Lucy Feng, Caroline Sewry, Adeline Ngoh Seow Fen, Cheryl Longman, Gary McCullagh, Volker Straub, Stephanie Robb, Adnan Manzur, Kate Bushby, Francesco Muntoni
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive report of the relative frequency and clinical and genetic spectrum of CMD in the UK. Genetic analysis of CMD genes in the UK is centralised in London and Newcastle. Between 2001 and 2013, a genetically confirmed diagnosis of CMD was obtained for 249 unrelated individuals referred to these services...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28686408/mechanism-of-allosteric-inhibition-of-the-enzyme-ispd-by-three-different-classes-of-ligands
#4
Anatol Schwab, Boris Illarionov, Annika Frank, Andrea Kunfermann, Michael Seet, Adelbert Bacher, Matthias C Witschel, Markus Fischer, Michael Groll, François Diederich
Enzymes of the nonmevalonate pathway of isoprenoid biosynthesis are attractive targets for the development of herbicides and drugs against infectious diseases. While this pathway is essential for many pathogens and plants, mammals do not depend on it for the synthesis of isoprenoids. IspD, the third enzyme of the nonmevalonate pathway, is unique in that it has an allosteric regulatory site. We elucidated the binding mode of phenylisoxazoles, a new class of allosteric inhibitors. Allosteric inhibition is effected by large conformational changes of a loop region proximal to the active site...
July 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28681528/poster-abstracts-of-the-ispd-21st-international-conference-on-prenatal-diagnosis-and-therapy-san-diego-california-usa-9-12-july-2017
#5
(no author information available yet)
No abstract text is available yet for this article.
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28681527/ispd-2017-abstract-author-index
#6
(no author information available yet)
No abstract text is available yet for this article.
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28681526/oral-abstracts-of-the-ispd-21-st-international-conference-on-prenatal-diagnosis-and-therapy-san-diego-california-usa-9-12-july-2017
#7
(no author information available yet)
No abstract text is available yet for this article.
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28676507/length-of-time-on-peritoneal-dialysis-and-encapsulating-peritoneal-sclerosis-position-paper-for-ispd-2017-update
#8
Edwina A Brown, Joanne Bargman, Wim van Biesen, Ming-Yang Chang, Frederic O Finkelstein, Helen Hurst, David W Johnson, Hideki Kawanishi, Mark Lambie, Thyago Proença de Moraes, Johann Morelle, Graham Woodrow
No abstract text is available yet for this article.
July 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/28573488/peritoneal-dialysis-related-infections-recommendations-2016-update-what-is-new
#9
REVIEW
Vassilios Liakopoulos, Olga Nikitidou, Theofanis Kalathas, Stefanos Roumeliotis, Marios Salmas, Theodoros Eleftheriadis
In 2016, the International Society of Peritoneal Dialysis (ISPD) published guidelines that focus on the importance of both prevention and treatment of peritonitis. For once more, the need for annual reporting of peritonitis rates and recording of peritonitis and exit-site infections, isolated microorganism and antimicrobial susceptibilities as a central component of a quality improvement program is highlighted. Data on new antibiotic regimens, techniques for microorganism isolation and peritoneal dialysis solutions are included...
June 1, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-of-trisomies-13-18-and-21-a-consensus-opinion
#10
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: Non-invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelines. METHODS: All laboratories registered in the three European quality assurance schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis...
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28484880/what-is-new-in-cdg
#11
Jaak Jaeken, Romain Péanne
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causing secondary hypoglycosylation. This review covers the human CDG highlights from the last 3 years (2014-2016) following a summary of the actual status of CDG. It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, VPS13B, CCDC115, TMEM199, ATP6AP1, ATP6V1A, ATP6V1E1, TRAPPC11, XYLT1 and XYLT2...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28435914/factors-predictive-of-topographical-accuracy-in-spine-level-localization
#12
Jin W Tee, Joost Rutges, Travis Marion, John Street, Scott Paquette, Tamir Ailon, Brian K Kwon, Marcel Dvorak, Michael Boyd
BACKGROUND: Pre-operative spine level localization by palpation of anatomical landmarks (ribs, spinous processes) in posterior approaches for surgeries from T4 to L2 is often inaccurate. This can lead to ineffective utilization of procedural time, increased radiation dose, potentially longer skin incision and wrong level surgery. Factors affecting topographical accuracy includes body mass index (BMI) of the patient, congenital or acquired deformity and knowledge of topographical anatomy...
March 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/28360365/ispd-catheter-related-infection-recommendations-2017-update
#13
Cheuk-Chun Szeto, Philip Kam-Tao Li, David W Johnson, Judith Bernardini, Jie Dong, Ana E Figueiredo, Yasuhiko Ito, Rumeyza Kazancioglu, Thyago Moraes, Sadie Van Esch, Edwina A Brown
No abstract text is available yet for this article.
March 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/27903848/a-new-peritoneal-dialysis-training-guideline-from-the-ispd-nursing-committee
#14
Helen Hurst
No abstract text is available yet for this article.
November 2016: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/27857147/molecular-mechanism-of-action-of-antimalarial-benzoisothiazolones-species-selective-inhibitors-of-the-plasmodium-spp-mep-pathway-enzyme-ispd
#15
Kathryn E Price, Christopher M Armstrong, Leah S Imlay, Dana M Hodge, C Pidathala, Natalie J Roberts, Jooyoung Park, Marwa Mikati, Raman Sharma, Alexandre S Lawrenson, Niraj H Tolia, Neil G Berry, Paul M O'Neill, Audrey R Odom John
The methylerythritol phosphate (MEP) pathway is an essential metabolic pathway found in malaria parasites, but absent in mammals, making it a highly attractive target for the discovery of novel and selective antimalarial therapies. Using high-throughput screening, we have identified 2-phenyl benzo[d]isothiazol-3(2H)-ones as species-selective inhibitors of Plasmodium spp. 2-C-methyl-D-erythritol-4-phosphate cytidyltransferase (IspD), the third catalytic enzyme of the MEP pathway. 2-Phenyl benzo[d]isothiazol-3(2H)-ones display nanomolar inhibitory activity against P...
November 18, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27854285/organ-and-growing-stage-specific-expression-of-solanesol-biosynthesis-genes-in-nicotiana-tabacum-reveals-their-association-with-solanesol-content
#16
Ning Yan, Hongbo Zhang, Zhongfeng Zhang, John Shi, Michael P Timko, Yongmei Du, Xinmin Liu, Yanhua Liu
Solanesol is a noncyclic terpene alcohol that is composed of nine isoprene units and mainly accumulates in solanaceous plants, especially tobacco (Nicotiana tabacum L.). In the present study, RNA-seq analyses of tobacco leaves, stems, and roots were used to identify putative solanesol biosynthesis genes. Six 1-deoxy-d-xylulose 5-phosphate synthase (DXS), two 1-deoxy-d-xylulose 5-phosphate reductoisomerase (DXR), two 2-C-methyl-d-erythritol 4-phosphate cytidylyltransferase (IspD), four 4-diphosphocytidyl-2-C-methyl-d-erythritol kinase (IspE), two 2-C-methyl-d-erythritol 2,4-cyclo-diphosphate synthase (IspF), four 1-hydroxy-2-methyl-2-(E)-butenyl 4-diphosphate synthase (IspG), two 1-hydroxy-2-methyl-2-(E)-butenyl 4-diphosphate reductase (IspH), six isopentenyl diphosphate isomerase (IPI), and two solanesyl diphosphate synthase (SPS) candidate genes were identified in the solanesol biosynthetic pathway...
November 15, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/27821871/a-structural-and-functional-study-on-the-2-c-methyl-d-erythritol-4-phosphate-cytidyltransferase-ispd-from-bacillus-subtilis
#17
Yun Jin, Zhongchuan Liu, Yanjie Li, Weifeng Liu, Yong Tao, Ganggang Wang
2-C-Methyl-D-erythritol-4-phosphate cytidyltransferase (IspD) is an essential enzyme in the mevalonate-independent pathway of isoprenoid biosynthesis. This enzyme catalyzes 2-C-Methyl-d-erythritol 4-phosphate (MEP) and cytosine triphosphate (CTP) to 4-diphosphocytidyl-2-C-methyl-d-erythritol (CDPME) and inorganic pyrophosphate (PPi). Bacillus subtilis was a kind of excellent isoprene producer. However, the studies on the key enzymes of MEP pathway in B. subtilis were still absent. In this work, the crystal structures of IspD and IspD complexed with CTP from B...
November 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27717678/results-of-application-of-the-ispd-guidelines-to-the-management-of-peritoneal-dialysis-in-a-single-center-in-sudan
#18
Sahar M Kheir, Shamsoun Khamis Kafi, Patrik Ryden, Haitham Elbir, Mohammed A Soliman, Shima Ali, Ramy Abulikailik, Khadega Ahamed, Hasan Abu-Aisha
The culture negative peritonitis in Sudan 2010 was 46% exceeding 20% of the recommended ISPD (International Society for Peritoneal Dialysis) guidelines. This study reports an update after applying the standard ISPD protocol. The routine method was replaced by ISPD protocol. The culture negative rate using the ISPD guidelines dropped from 46% in the year 2010, to 39% in the year 2011, to 5% in the 2012 and to zero percent in the year 2013. Bacterial and fungal species represent (86.76%) and (13.23%) of infection and most isolates showed low resistance rate to antibiotics...
October 4, 2016: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/27679614/new-insight-into-isoprenoids-biosynthesis-process-and-future-prospects-for-drug-designing-in-plasmodium
#19
REVIEW
Gagandeep S Saggu, Zarna R Pala, Shilpi Garg, Vishal Saxena
The MEP (Methyl Erythritol Phosphate) isoprenoids biosynthesis pathway is an attractive drug target to combat malaria, due to its uniqueness and indispensability for the parasite. It is functional in the apicoplast of Plasmodium and its products get transported to the cytoplasm, where they participate in glycoprotein synthesis, electron transport chain, tRNA modification and several other biological processes. Several compounds have been tested against the enzymes involved in this pathway and amongst them Fosmidomycin, targeted against IspC (DXP reductoisomerase) enzyme and MMV008138 targeted against IspD enzyme have shown good anti-malarial activity in parasite cultures...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27659924/the-2016-ispd-update-on-prevention-and-treatment-of-peritonitis-grading-the-evidence
#20
EDITORIAL
Martin Wilkie
No abstract text is available yet for this article.
September 2016: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
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