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Most of the members of the LEM-domain-containing protein family (where LEM represents lamina-associated polypeptide, emerin, MAN1) are transmembrane proteins that span the inner nuclear membrane and interact with the nuclear lamina. Together with barrier-to-autointegration factor (BAF), these proteins regulate nuclear assembly and chromatin organisation. Here, Roland Foisner (p. 1048) and co-workers characterise a LEM-domain-containing protein, ANKLE1 (for ankyrin repeat and LEM domain-containing protein 1), that has rather different functions. Like other LEM proteins, ANKLE1, binds to BAF through the LEM domain. However, ANKLE1 does not reside in the inner nuclear membrane, but instead shuttles between the cytoplasm and the nucleus and has a primarily cytoplasmic localisation at steady state. In addition to the LEM domain, ANKLE1 contains an active GIY-YIG-type endonuclease domain, and the nuclear accumulation of ANKLE1 leads to the formation of DNA double-strand breaks and the induction of a ...
Gene Information Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq Jul 2008]. ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
Nash, L; Good, R A.; Goldstein, G; and Incefy, G S., "In vitro differentiation of two surface markers for immature t cells by the synthetic pentapeptide, thymopoietin32-36 (tp-5). Abstr." (1980). Subject Strain Bibliography 1980. 2217 ...
Complete information for TMPO gene (Protein Coding), Thymopoietin, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Emerin and A-type lamin-deficient cells have impaired mechanotransduction. (a) Expression of the mechanosensitive genes iex-1 and egr-1 in response to mechanica
Emerin Antibody 10351-1-AP has been identified with ELISA, FC, IF, IP, WB. 10351-1-AP detected 35 kDa band in HeLa cells with 1:500-1:2000 dilution...
MASSPELPTEDEQGSWGIDDLHISLQAEQEDTQKKAFTCWINSQLARHTSPSVISDLFTDIKKGHVLLDL 1 - 70 LEVLSGQQLPRDKGSNTFQCRINIEHALTFLRNRSIKLINIHVTDIIDGNPSIILGLIWTIILHFHIEKL 71 - 140 AQTLSCNYNQPSLDDVSVVDSSPASSPPAKKCSKVQARWQMSARKALLLWAQEQCATYESVNVTDFKSSW 141 - 210 RNGMAFLAIIHALRPDLIDMKSVKHRSNKDNLREAFRIAEQELKIPRLLEPEDVDVVDPDEKSIMTYVAQ 211 - 280 FLQYSKDAPGTGEEAQGKVKDAMGWLTLQKEKLQKLLKDSENDTYFKKYNSLLSFMESFNEEKKSFLDVL 281 - 350 SIKRDLDELDKDHLQLREAWDGLDHQINAWKIKLNYALPPPLHQTEAWLQEVEELMDEDLSASQDHSQAV 351 - 420 TLIQEKMTLFKSLMDRFEHHSNILLTFENKDENHLPLVPPNKLEEMKRRINNILEKKFILLLEFHYYKCL 421 - 490 VLGLVDEVKSKLDIWNIKYGSRESVELLLEDWHKFIEEKEFLARLDTSFQKCGEIYKNLAGECQNINKQY 491 - 560 MMVKSDVCMYRKNIYNVKSTLQKVLACWATYVENLRLLRACFEETKKEEIKEVPFETLAQWNLEHATLNE 561 - 630 AGNFLVEVSNDVVGSSISKELRRLNKRWRKLVSKTQLEMNLPLMIKKQDQPTFDNSGNILSKEEKATVEF 631 - 700 STDMSVELPENYNQNIKAGEKHEKENEEFTGQLKVAKDVEKLIGQVEIWEAEAKSVLDQDDVDTSMEESL 701 - 770 KHLIAKGSMFDELMARSEDMLQMDIQNISSQESFQHVLTTGLQAKIQEAKEKVQINVVKLIAALKNLTDV 771 - 840 ...
Looking for online definition of Emery-Dreifuss muscular dystrophy 5, autosomal dominant in the Medical Dictionary? Emery-Dreifuss muscular dystrophy 5, autosomal dominant explanation free. What is Emery-Dreifuss muscular dystrophy 5, autosomal dominant? Meaning of Emery-Dreifuss muscular dystrophy 5, autosomal dominant medical term. What does Emery-Dreifuss muscular dystrophy 5, autosomal dominant mean?
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
This study has revealed that the integral inner nuclear membrane protein Src1 functions in gene regulation of subtelomeric genes and is embedded functionally in a network of factors, which participate in transcription-coupled mRNA export. Importantly, Src1 is associated with subtelomeric chromatin and thus can help to organize this region of the chromosomes. In previous studies, Src1 was shown to contain an intron with the possibility of alternative splicing (Davis et al., 2000; Rodríguez-Navarro et al., 2002). Our study revealed that both splice forms localize to the nuclear periphery and are integral inner nuclear membrane proteins (King et al., 2006). However, both proteins are not functionally equivalent. To the best of our knowledge, this is the first demonstration that two forms of a protein generated by alternative splicing in yeast have different functions.. The N domain of Src1 mediates nuclear targeting, and insertion into the nuclear membrane requires the first transmembrane span. ...
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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 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
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.. ...
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 ...
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 ...
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. ...
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 ...
Here, we used an unbiased genetic approach to identify components required for transcription mediated by unprocessed latent forms of Stp1 and Stp2 in asi1Δ mutants. We selected spontaneous mutations in RLS genes that suppressed the constitutive expression of SPS sensor-regulated genes in asi1Δ cells. We anticipated finding loss-of-function mutations in multiple genes, i.e., genes encoding transcriptional coactivators that function together with Stp1 or Stp2, but also mutations in genes encoding proteins facilitating nuclear import or stability of Stp1 and Stp2. However, we found that all rls mutations belonged to a single complementation group. The number of rls mutations analyzed strongly suggests that under the conditions used, the RLS screen is saturated. Our inability to identify a large set of RLS genes could be due to the extremely tight selection used that allowed isolation of only those mutations that completely abolish expression of AGP1 and GNP1. Alternatively, the processes ...
Emerin and LEM2 are ubiquitous inner nuclear membrane protein conserved from human beings to pets that were possibly hypomorphic (LEM-2-null and heterozygous for Ce-emerin) or null for both protein. LEM-2-null pets 4-Epi Minocycline showed unexpected flaws in smooth muscles activity. These results implicate individual LEM2 mutations being a potential reason behind EDMD and further suggest […]. ...
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 ...
Representative histopathological analysis of muscle biopsies from Patient 1 with Emery Dreifuss muscular dystrophy. (A) Hematoxylin and eosin staining revealed
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...
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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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
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 ...
Emery had her surgery to close the hole in her ear a week ago this past Friday. I have to say, I was a nervous Momma but it went really, really well. The hardest part was when she woke up she was immediately ready to go and they wouldnt let us leave until she ate some slushie or drank some water. That made her mad, really, really mad. Overall she has had minimal pain and what she has had is from where they took the graft off the back of her ear to cover the hole. I am so very thankful that so far everything has gone smoothly. She is a little trooper for sure ...
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
The use of sophisticated financial instruments is an effective tool for companies to help manage risk and optimize operations. Successfully utilizing structured
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 ...
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 ...
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. ...
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 ...
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 ...
To confirm results from a previous study in which the combination of thymopentin plus zidovudine ( AZT ), an antiretroviral agent, slowed disease progression in HIV-infected asymptomatic patients. To evaluate the efficacy and safety of thymopentin in HIV-infected asymptomatic patients receiving either monotherapy with AZT, didanosine ( ddI ), or stavudine ( d4T ), or combination antiretroviral therapy with AZT / ddI or AZT / zalcitabine ( ddC ...
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Misfolded proteins in the endoplasmic reticulum (ER) are eliminated by a quality-control system called ER-associated protein degradation (ERAD). However, how misfolded proteins in the inner nuclear membrane (INM), a specialized ER subdomain, are degraded is not known. Here, a quantitative proteomics approach revealed an ERAD branch required for INM protein quality control in yeast. This branch involved the integral membrane proteins Asi1, Asi2, and Asi3, which assembled into an Asi complex. Besides INM misfolded proteins, the Asi complex promoted the degradation of functional regulators of sterol biosynthesis. Asi-mediated ERAD was required for ER homeostasis, which suggests that spatial segregation of protein quality-control systems contributes to ER function.. ...
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 ...
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.
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.. ...
The Ssy1-Ptr3-Ssy5 (SPS)-sensing pathway enables yeast to respond to extracellular amino acids. Stp1, the effector transcription factor, is synthesized as a latent cytoplasmic precursor with an N-terminal regulatory domain that restricts its nuclear accumulation. The negative regulatory mechanisms impinging on the N-terminal domain are poorly understood. However, Stp1 latency depends on three inner nuclear membrane proteins, Asi1, Asi2, and Asi3. We report that the N-terminal domain of Stp1 contains a small motif, designated RI, that fully accounts for latency. RI is modular, mediates interactions with the plasma membrane, and can retain histone Htb2 in the cytoplasm. A novel class of STP1 mutations affecting RI were isolated that are less efficiently retained in the cytoplasm but remain under tight negative control by the Asi proteins. Intriguingly, these mutant proteins exhibit enhanced stability in strains lacking ASI1. Our results indicate that RI mediates latency by two distinct activities: ...
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 ...
Ray Emery stopped 17 shots, Patrick Kane had a goal and two assists, and Chicago held off Colorado 5-2 on Monday night in the first meeting since the Avalanche halted the Blackhawks record points streak.