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The product of the X-linked Emery-Dreifuss muscular dystrophy gene is a protein called emerin, which is localized to the nuclear membrane. We have expressed full-length recombinant human emerin in an in vitro coupled reticulocyte system; it has a molecular mass of 34 kDa, inserts into microsomes in a type II orientation, and does not exhibit any N-linked glycosylation or cleavage event. Affinity-purified human emerin antiserum cross-reacts with the in vitro-expressed emerin and with a 34 kDa band present in a wide range of human tissue samples. Expression and subcellular distribution of emerin were studied in lymphoblastoid cell lines established from four patients with Emery-Dreifuss muscular dystrophy containing different mutations in the emerin gene. Emerin protein was detected in two of these patients by immunoblotting. In striking contrast to wild-type emerin, which was localized to the nuclear fraction and was insoluble in non-ionic detergents and high salt, emerin from these two patients ...
Although it was probably first described in the early 1900s, Emery-Dreifuss muscular dystrophy (EDMD) was not clearly delineated as a separate disease until the 1960s. In 1961, Dreifuss and Hogan described a large family with an X-linked form of muscular dystrophy that they considered to be a benign form of Duchenne muscular dystrophy.
Two families with Emery-Dreifuss muscular dystrophy (EMD) have been studied with DNA markers mapping to Xq27.3----qter. No recombination was observed in 11 phase known meioses informative for the factor VIII gene (F8C) and eight phase known meioses informative for DXS15 (DX13), giving maximum lod scores of 3.50 and 2.50 respectively at a recombination fraction of zero. DXS52 (St14) showed one recombinant in 12 phase known meioses giving a maximum lod score of 2.62 at a recombination fraction of 0.07. These results map EMD to the distal end of the long arm of the X chromosome and are an important step in the development of tests for carrier detection and prenatal diagnosis.. ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Emery-Dreifuss muscular dystrophy
Inclusion Criteria:. Alpha 7/Alpha 9 Integrin Related Myopathy Collagen VI Related Myopathy (Ullrich through Bethlem CMD) Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O) Choline Kinase B Receptor Emery-Dreifuss Muscular Dystrophy (EDMD, LGMD1B, LMNA, Emerin, FHL1, SYNE1, SYNE2, TMEM43) LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin deficient) LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy) RYR1 Related Myopathy (with dystrophic presentation, including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy) SYNE1 (Nesprin Related Muscular Dystrophy) Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap) Congenital Muscular Dystrophy Not Otherwise Specified ...
Inclusion Criteria:. Alpha 7/Alpha 9 Integrin Related Myopathy Collagen VI Related Myopathy (Ullrich through Bethlem CMD) Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O) Choline Kinase B Receptor Emery-Dreifuss Muscular Dystrophy (EDMD, LGMD1B, LMNA, Emerin, FHL1, SYNE1, SYNE2, TMEM43) LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin deficient) LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy) RYR1 Related Myopathy (with dystrophic presentation, including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy) SYNE1 (Nesprin Related Muscular Dystrophy) Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap) Congenital Muscular Dystrophy Not Otherwise Specified ...
Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart block. The early recognition of the condition is essential because the insertion of a cardiac pacemaker can be life saving. The disorder is usually inherited as an X linked recessive trait (linked to DNA markers around Xq28). However, occasionally it can be inherited as an autosomal dominant trait and there is an indication that this and the X linked form may in some cases have a neurogenic basis. For these reasons it has recently been proposed that the appellation Emery-Dreifuss syndrome be used for this triad of symptoms and signs.. ...
Idiopathic DCM is estimated to be associated with a familial component in 20-48% of cases, with AD inheritance being the predominant pattern of transmission, while X-linked, AR, and mitochondrial inheritance are less common.20-36 Two major forms of AD DCM have been recognized: isolated (or pure) DCM, and DCM associated with cardiac conduction system disease. Its pathophysiology is poorly understood. Some mutations result in DCM and conduction disease alone,20 while others lead to juvenile-onset muscular dystrophies, including Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy with insulin-resistant diabetes.20. X-linked inheritance accounts for about 5% of familial cases of DCM,14,20 and may occur in Duchenne, Becker, and Emery-Dreifuss muscular dystrophies.22 Mutations in mitochondrial tRNAs, which have matrilineal inheritance, affect cardiac function and hearing. They are usually associated with encephalopathy, skeletal myopathies and metabolic abnormalities.20. Clinical ...
The muscular dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes required for normal muscle function. Some of the genes responsible for these conditions have been identified. Muscle weakne
Representative histopathological analysis of muscle biopsies from Patient 1 with Emery Dreifuss muscular dystrophy. (A) Hematoxylin and eosin staining revealed
People with Emery-Dreifuss MD often begin to develop symptoms during childhood or adolescence. In the early stages, people with the condition usually develop muscle contractures (where the muscles and tendons become shortened and tightened, limiting the range of movement at nearby joints).. Areas commonly affected by muscle contractures include the arms, neck and feet. This means that people with Emery-Dreifuss MD may have difficulty straightening their elbows or bending their neck forward, for example.. Like all types of MD, Emery-Dreifuss MD also causes progressive muscle weakness, usually beginning in the shoulders, upper arms and lower legs. This can make it difficult to lift heavy objects or raise your arms above your head, and you may have an increased tendency to trip over things.. Later on, the hip and thigh muscles become weaker, making activities such as walking up stairs difficult. People with Emery-Dreifuss MD will often eventually require a wheelchair, as they become unable to ...
Emerin and MAN1 are LEM domain-containing integral membrane proteins of the vertebrate nuclear envelope. The function of MAN1 is unknown, whereas emerin is known to interact with nuclear lamins, barrier-to-autointegration factor (BAF), nesprin-1 alpha, and a transcription repressor. Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy. Emerin and MAN1 ...
The single spanning INM protein emerin is encoded by the EMD gene, which, when mutated, produces the X‐linked form of Emery-Dreifuss muscular dystrophy (EDMD; Gruenbaum et al, 2005). The lamin‐associated protein LAP2β was originally identified as a single spanning INM protein with a nucleoplasmic binding region for lamin B and chromatin (Foisner & Gerace, 1993). Both emerin and LAP2β associate with several transcriptional regulators, and this association invariably coincides with repression of the transcription factor target genes. In most instances, the mechanism of repression is not clear because it is uncertain whether the transcription factor acts as an activator or repressor of transcription-often transcription factors can do both. If the transcription factor acts as an activator, sequestering the transcription factor away from its target gene is a possible mechanism. If the transcription factor acts as a repressor, a model would be created of a repressive environment for the target ...
The patients mother reported a similar history, albeit with a later onset, with proximal muscle weakness noted around age 30 years and progressing to dependence on a cane for walking by age 60 years. Muscle biopsy was reported as dystrophic-appearing but was not available for review.. No other family members were noted to have similar features. The family was counselled that their condition was likely a form of autosomal dominant muscular dystrophy, with Bethlem myopathy and Emery-Dreifuss muscular dystrophy included in the differential diagnosis. Further investigations were recommended; however, the family did not return to our clinic for the ensuing 5 years.. When the family returned in 2010, they brought an electronic data storage device with their annotated whole-genome sequence data, obtained-in order to predict their risk of common diseases-through sequencing contracted through our (JH, NMP) genome interpretation company in Boston. Analysis of the kindred genome data flagged ...
Connie Davis is 43 years old, has myasthenia gravis (MG) and lives in Kirkwood, N.Y. Evan Fries, who has Duchenne muscular dystrophy (DMD), is 24 and hails from Charlotte, N.C. And Samuel Kahn is 25; he has Emery-Dreifuss muscular dystrophy (EDMD) and resides in San Diego, Calif. ...
CANNABIS CULTURE - Imprisoned cannabis activist Marc Emery has been released from solitary confinement after spending three weeks in a small cell, 24-hours-a-day, with little human contact. He has lost over 15 pounds since being moved from his regular cell on June 3 after unknowingly breaking a prison rule by recording a telephone message to his supporters. Emerys supporters view the punishment as an excuse to silence a successful political activist who has been a thorn in the side of government officials and drug policy makers for years.. On Thursday, June 3, officials at the SeaTac Federal Detention Center in Washington gave Emery an official citation for allowing his wife, BC Green Party Director-at-Large Jodie Emery, to record a message from him over the phone, claiming it broke the prisons rule forbidding third-party calls. Emery was locked in a Segregated Housing Unit (SHU) and denied access to books, television, the telephone, or contact with his wife and family. On June 24, an internal ...
Former NHL goaltender Ray Emery drowned while swimming in his hometown of Hamilton, Ontario, on Sunday. He was 35. According to the Hamilton Police Department, Emery was reported missing just after 6 a.m. Sunday in Hamilton Harbour, which is on the western tip of Lake Ontario. His body was recovered in proximity to where he was last seen later in the afternoon, police said. The cause of death will be confirmed following an examination.. "They went out for a swim, and unfortunately, he did not emerge after diving in," police Inspector Marty Schulenberg told The Hamilton Spectator. "We responded along with Hamilton Fire and EMS. Unfortunately, our efforts on the water and in the area just around the piers were met with negative results.". Emery was an Ottawa Senators fourth-round draft pick in 2001. Over 11 NHL seasons, he played for the Senators, Philadelphia Flyers, Anaheim Ducks and Chicago Blackhawks. Nicknamed "Razor" for his aggressive style, Emery helped the Senators to the Stanley Cup ...
POT TV - Watch new episodes of The Jodie Emery Show each week for the latest news on Marc Emery, CCHQ, and Canadas cannabis community. In this episode: The British Columbia election is over, and Jodie is pleased with her BC Green Party campaign. Now shes back to the usual regular hard work, media, events, and managing four business brands while looking after Marc and the movement. To see photos, video, and more from Jodies election campaign trail go to http://www.JodieForMLA.ca Marc has a new blog about his take on the election that you can see at http://www.FreeMarc.ca and http://www.CannabisCulture.com, or by clicking here.. More pictures of Marc have arrived with shots of him with Cannabis Culture editor Jeremiah and his girl Carina from their recent visit to Mississippi. Marc now has 418 days left on his prison sentence, but the application for his transfer to Canada is underway.. Jodie is off to visit with Marc this coming weekend. Its been the longest they have spent without a visit, ...
Yesterday I started on my first outfit and I finished it today. It turned out pretty good too, not perfect, but good! I did all the actual sewing except the bandanna (Nana made it last night) and then Nana hand sewed the ruffles on the legs because the arm of my machine is too big for Emerys tiny capri leg holes! I could have done it all, but its nice to have help. I think this is going to be pretty darn fun! I do plan on making a matching bow because I LOVE bows on Emery, but the bandanna is pretty cute. Tell me what you think! And if you click on the first pic, you can see her two bottom teeth (and yes, her eyes are that color, lucky girl ...
Ray Emery and Johan Backlund will divide the goalie duties Tuesday.. * * * * * * * * * * * * * * * At todays practice, Emery unveiled his second tribute mask. This one has the likenesses of former Flyers goalies Bernie Parent, Pelle Lindbergh and Rox Hextall painted in it. The other one is composed of boxers Joe Frazier, Bernard Hopkins and the fictitious Rocky Balboa.. ...
Some myoblasts cell nuclei from the AD-EDMD patient 99-3 are negative for antibodies to lamin A/C. Immunolabelling of myoblasts cells with mutation LMNA R377H (
Monica Wallace has been promoted to partner in the Chicago office of McDermott Will & Emery LLP. She focuses her practice on complex regulatory and transactional counseling to health care organizations such as health systems, hospitals, physician groups, integrated delivery systems, durable medical...
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Dubruille R, Murad A, Rosbash M, Emery P. A constant light-genetic screen identifies KISMET as a regulator of circadian photoresponses. PLoS Genet. 2009 Dec; 5(12):e1000787 ...
WASHINGTON, D.C. - Timothy Blanchard, a health law partner resident in the Los Angeles office of McDermott Will & Emery, will be testifying before the Committee on Small Business of the U.S. House of Representatives regarding Medicare regulatory problems faced by health care providers in complying with regulations and directives from the Centers for Medicare & Medicaid Services (CMS) and those of CMSs contractors. The hearing, "CMS: New Name, Same Old Game?" will be held on Thursday, May 16, 2002, at 9:30 a.m. (EST) in 2360 Rayburn HOB.. CMS, a federal agency within the U.S. Department of Health and Human Services, is responsible for the Medicare and Medicaid programs. CMS, previously the Health Care Financing Administration (HCFA), was renamed on July 1, 2001, following an announcement by Health and Human Services Secretary Tommy G. Thompson.. Mr. Blanchard was invited to testify based on two law review articles he published regarding issues surrounding Medicare "medical necessity" policy and ...
So it looks like our little princess is going to take after her Nana in the cake decorating department (heck, in the cooking department for that matter). She has been a busy little girl! Here is her first cake that she did all by herself. Well, Nana helped measure, pour, and cook, but Emery did the mixing of ingredients, icing, and sprinkles! Can you tell what it is? If you cant, its a My Little Pony, but Im sure you guessed that!!! Not bad for a just turned 3 year old!!! I am so thankful that she has Nana that is patient enough to give her these opportunities, we are so blessed ...
Emery has already produced multiple authentic documents that prove his elaborate, high-level military service.. His testimony is very, very amazing. His public outing is as significant of an event in the UFO community as what we saw with William Tompkins.. Emery is prepared to do live videos, radio shows and other events to help get the word out, and encourage a fuller form of disclosure.. He also helps to ground the Corey Goode info in a more terrestrial package. His MD-level knowledge of anatomy and related jargon is very impressive.. At this time, Emery has been all but completely financially devastated by the Deep State. He has no car, no furniture and can barely even afford food.. I have helped him as much as I can this year and am also low on funds at this point, due to initiatives I will be announcing in the coming year.. I therefore strongly encourage you to step up and send Emery an emergency donation at https://www.paypal.me/EmerySmith72. This war for disclosure is very real, and ...
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emery: Granular rock consisting of a mixture of the mineral corundum (aluminum oxide, Al 2 O 3) and iron oxides such as magnetite (Fe 3 O 4) or hematite (Fe 2 O 3). Long used as an abrasive...
Lyrics to Inside Our Skin by Emery: This is what comes of the best intentions we have / They get lost with the rest and soon forgotten
View detailed information and reviews for 43 Emery Ave in Flemington, New Jersey and get driving directions with road conditions and live traffic updates along the way.
There are over 250 recognized sex-linked diseases, affecting every organ system.Of these, 95% affect males, (Emery, 1968). Despite these many sex-linked diseases, atpresent prenatal diagnosis can specifically be made in fewer than 40 diseases. (Emery,1...
Ive been married to an awesome and very loving husband for four years. We have 2 lil girls who are just amazing, sweet,crazy, and loving. Layla is 3 and Emery is 2. Emery was born with multiple heart defects. ASD,VSD,Ciss-cross Ventricles, and HRHS ...
Jeremy Earl said that 27 states, including California and New York, already have rules stricter than the federal guidelines to assure the network adequacy of he
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In this concept cloud, the sizes of the concepts are based not only on the number of corresponding publications, but also how relevant the concepts are to the overall topics of the publications, how long ago the publications were written, whether the person was the first or senior author, and how many other people have written about the same topic. The largest concepts are those that are most unique to this person ...
Newton, J.L., Frith, J., Powell, D., Hackett, K., Wilton, K., Bowman, S., Price, E., Pease, C., Andrews, J., Emery, P., Hunter, J., Gupta, M., Vadivelu, S., Giles, I., Isenberg, D., Lanyon, P., Jones, A., Regan, M., Cooper, A., Moots, R., Sutcliffe, N., Bombardieri, M., Pitzalis, C., McLaren, J., Young-Min, S., Dasgupta, B., Griffiths, B., Lendrem, D., Mitchell, S., Ng, W.-F., Bacabac, E.C., Moots, R., Chadravarty, K., Lamabadusuriya, S., Bombardieri, M., Pitzalis, C., Sutcliffe, N., Gendi, N., Adeniba, R., Hamburger, J., Richards, A., Rauz, S., Brailsford, S., Logan, J., Mulherin, D., Andrews, J., Emery, P., McManus, A., Pease, C., Booth, A., Regan, M., Dimitroulas, T., Kadiki, L., Kaur, D., Kitas, G., Lloyd, M., Moore, L., Gordon, E., Lawson, C., Gupta, M., Hunter, J., Stirton, L., Ortiz, G., Price, E., Clunie, G., Rose, G., Cuckow, S., Knight, S., Symmons, D., Jones, B., Carr, A., Edgar, S., Carrozzo, M., Figuereido, F., Foggo, H., Gillespie, C., Lendrem, D., Macleod, I., Mitchell, S., Tarn, ...
And for Star Sapphire, how about "Emery", a reference to the material used for emery boards, which is chemically similar to that which makes up sapphire. ...
Østergaard, Mikkel, McQueen, F., Wiell, C., Bird, P., Bøyesen, P., Ejbjerg, B., Peterfy, C., Gandjbakhch, F., Duer-Jensen, A., Coates, L., Haavardsholm, E. A., Hermann, K. A., Lassere, M., OConnor, P., Emery, P., Genant, H. & Conaghan, P. G., 2009, I : Journal of Rheumatology. 36, 8, s. 1816-24 9 s.. Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt ...
Morais Sana, Dandara Emery; Miranda, Priscila Mayrink de; Vieira Pitol, Bruna Caroline; Moran, Mariana Soares; Toledo Silva, Nayara Nascimento; Cotrim Guerreiro da Silva, Ismael Dali ...
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Skeletal muscle is maintained and repaired by resident stem cells called muscle satellite cells, but there is a gradual failure of this process during the progressive skeletal muscle weakness and wasting that characterises muscular dystrophies. The pathogenic mutation causes muscle wasting, but in conditions including Duchenne muscular dystrophy, the mutant gene is not expressed in satellite cells, and so muscle maintenance/repair is not directly affected. The chronic muscle wasting, however, produces an increasingly hostile micro-environment in dystrophic muscle. This probably combines with excessive satellite cell use to eventually culminate in an indirect failure of satellite cell-mediated myofibre repair. By contrast, in disorders such as Emery-Dreifuss muscular dystrophy, the pathogenic mutation not only instigates muscle wasting, but could also directly compromise satellite cell function, leading to less effective muscle homeostasis. This may again combine with excessive use and a hostile ...
Lamin A is a component of the inner nuclear membrane that, together with epigenetic factors, organizes the genome in higher order structures required for transcriptional control. Mutations in the Lamin A/C gene cause several diseases, belonging to the class of laminopathies, including muscular dystrophies. Nevertheless, molecular mechanisms involved in the pathogenesis of Lamin A-dependent dystrophies are still largely unknown. Polycomb group of proteins (PcG) are epigenetic repressors and Lamin A interactors, primarily involved in the maintenance of cell identity. Using a murine model of Emery-Dreifuss Muscular Dystrophy (EDMD), we showed here that Lamin A loss deregulated PcG positioning in muscle satellite stem cells leading to de-repression of non-muscle specific genes and p16INK4a, a senescence driver encoded in the Cdkn2a locus. This aberrant transcriptional programme caused impairment in self-renewal, loss of cell identity and premature exhaustion of quiescent satellite cell pool. Genetic ...
Distal Lower Limb Muscle Weakness and Atrophy Symptom Checker: Possible causes include Emery-Dreifuss Muscular Dystrophy Type 2. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
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I will try to blog as much as I can this week before I leave for the ICIS World Oleochemicals Conference in Croatia next week. Speaking of oleochemicals, Emery Oleochemicals finally opened its new $50 million green polyols facility in Cincinnati, Ohio.. The company claims it to be the worlds first industrial-scale facility capable of using scrap foam as feedstock to manufacture a new range of sustainable polyols. The facility can also manufacture not only recycled-based polyols but also bio-based polyols. The blog reported in 2013 the companys newly established Eco-Friendly Polyols business unit, which includes its brands EMEROX® Renewable Polyols and InfiGreen® Recycle Polyols.. Emery Oleochemicals also invested in an expanded Technical Development Center that will serve as its global innovation hub for the bio-polyols, bio-lubricants and bio-pesticides industries. It is expected to launch at the end of 2015.. Emery Oleochemicals, which claims to be the largest oleochemical manufacturer in ...
Title: Proton Elastic and Inelastic Scattering at Intermediate Energies from Isotopes of Oxygen and 9-Be as Part of a Unified Study of These Nuclei  Author: Kelly, J.; Bertozzi, W.; Buti, T.; Deady, M.; Hersman, F.W.; Hyde, C.; Hynes, M.V.; Kowalski, S.; Lichtenstadt, J.; Pugh, B.; Rad, F.N.; Redwine, R.; Bacher, A.; Emery, G.; Foster, C.; Jones, W.; Miller, D.; Walker, G.; Berman, B.; Petrovich, F.; Love, W.G.; Norum, B. Date: 1979 ...
Title: Proton Elastic and Inelastic Scattering at Intermediate Energies from Isotopes of Oxygen and 9-Be as Part of a Unified Study of These Nuclei  Author: Bertozzi, W.; Deady, M.; Hynes, M.V.; Kelly, J.; Norum, B.; Rad, F.N.; Walker, G.; Bacher, A.; Baranko, G.; Emery, G.; Foster, C.; Jones, W.; Miller, D.; German, B.L. Date: 1978 ...