Abstract：
:Skeletal muscle alpha-actin is the principal protein component of the adult skeletal muscle thin filament. The interaction between skeletal muscle alpha-actin and the various myosin heavy chain proteins in the different muscle fibre types generates the force of muscle contraction. Skeletal muscle alpha-alpha actin is thus of fundamental importance to normal muscle contraction. To date over 140 different disease-causing mutations have been identified in the skeletal muscle alpha-actin gene ACTA1. These mutations are associated with histologically distinct congenital myopathies, including nemaline myopathy, actin myopathy, intranuclear rod myopathy, congenital fibre type disproportion and myopathy with cores. Mutations in ACTA1 are associated with a wide range of clinical severity although the majority of patients tend to have severe congenital-onset disease. Most of the patients have de novo dominant mutations not present in either parent. However mild ACTA1 disease may be dominantly inherited and there are also recessive mutations. The recessive mutations are either genetic or functional null mutations. Patients with no skeletal actin retain cardiac actin, the fetal isoform of actin in skeletal muscle. Information from the clinic suggests that exercise and L-tyrosine may benefit some patients and that in the future decreasing the proportion of mutant actin may ameliorate the disease in some patients.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
North KN,Laing NGdoi
10.1007/978-0-387-84847-1_2subject
Has Abstractpub_date
2008-01-01 00:00:00pages
15-27eissn
0065-2598issn
2214-8019journal_volume
642pub_type
杂志文章abstract：:4-1BB (CD137) is being thought of as an attractive target for immunotherapy of many human immune diseases based on encouraging results with 4-1BB agonistic antibody treatment in mouse models of cancer, autoimmune disease, asthma and additionally as a means to improve vaccination. In this review, we will summarize the ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-89520-8_8
更新日期：2009-01-01 00:00:00
abstract：:Acute leukaemia is the major subtype of paediatric cancer with a cumulative risk of 1 in 2000 for children up to the age of 15 years. Childhood acute lymphoblastic leukaemia (ALL) is a biologically and clinically diverse disease with distinctive subtypes; multiple chromosomal translocations exist within the subtypes a...
journal_title：Advances in experimental medicine and biology
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doi：10.1007/978-981-10-3233-2_14
更新日期：2017-01-01 00:00:00
abstract：:Identification of dendritic cells (DC) in human tissues has been technically problematic due to the lack of truly specific immunohistochemical markers for DC's. Human dendritic cells express CD1a glycoprotein at certain points in their life cycle. CD1a positive cells are present in many human tumours and have been ass...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-9966-8_92
更新日期：1997-01-01 00:00:00
abstract：:Opioid receptors which are involved in cough generation are abundantly expressed in the brainstem. Codeine is a potent μ-opioid receptor agonist. In the present study we examined the effects of naloxone, a μ-opioid receptor antagonist, on mechanically-induced tracheobronchial cough and on the cough suppressing effect ...
journal_title：Advances in experimental medicine and biology
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-41448-5_21
更新日期：2016-01-01 00:00:00
abstract：:A difficult task for a novice modeler is beginning a modeling project. The methods described here delineate the modeling process step by step. Aristole is quoted as having said "One learns to play the flute by playing the flute," and the same principle holds somewhat for modeling. An excellent means for understanding ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-1959-5_2
更新日期：1998-01-01 00:00:00
abstract：:Vitiligo is a disorder of the melanocytes that results in a dynamic spectrum of skin depigmentation. Its etiology is complex and multifactorial, with data supporting several different hypotheses. Given its prominent phenotype, vitiligo has a significant negative impact on quality of life. Coupled with the chronic and ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-56017-5_5
更新日期：2017-01-01 00:00:00
abstract：:A monodispersed and ideal solution is a central (unique?) requirement of SAXS to allow one to extract structural information from the recorded pattern. On-line Size Exclusion Chromatography (SEC) marked a major breakthrough, separating particles present in solution according to their size. Identical frames under an el...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-981-10-6038-0_11
更新日期：2017-01-01 00:00:00
abstract：:In closing, let me return to the somewhat irreverent question that I asked at the beginning: Apart from what we learn about fundamentally important biological processes, does male-mediated developmental toxicity make any practical difference? The answer is no, yes, and we don't know. No: The risk of serious birth defe...
journal_title：Advances in experimental medicine and biology
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doi：10.1007/978-1-4419-9190-4_19
更新日期：2003-01-01 00:00:00
abstract：:The glucose metabolism in human polymorphonuclear (PMN) leukocytes was stimulated by latex particles, zymosan particles, gamma-G globulin and formylmet-leu-phe (FMLP) peptide. Maximum stimulation occurred when zymosan particles in amounts above 0.25 mg/ml per 4 X 10(6) leukocytes were used. Latex particles, gamma-G gl...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-8088-7_37
更新日期：1982-01-01 00:00:00
abstract：:Flaxseed has been used as an edible grain in different parts of the world since ancient times. However, use of flaxseed oil has been limited due to its high content of polyunsaturated fatty acids. Nonetheless, alpha-linolenic acid, dietary fiber and lignans of flaxseed have regained attention. New varieties of flaxsee...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4899-1925-0_26
更新日期：1998-01-01 00:00:00
abstract：:The subunit structure of the B-cell antigen receptor (BCR) and its associated compartmentalization of function confer enormous flexibility for generating signals and directing these toward specific and divergent cell fate decisions. Like all the multichain immune recognition receptors discussed in this volume, assembl...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-09789-3_2
更新日期：2008-01-01 00:00:00
abstract：:Chemometrics has been a fundamental discipline for the development of metabolomics, while symbiotically growing with it. From design of experiments, through data processing, to data analysis, chemometrics tools are used to design, process, visualize, explore and analyse metabolomics data.In this chapter, the most comm...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-47656-8_7
更新日期：2017-01-01 00:00:00
abstract：:Chronic tissue and organ failure caused by an injury, disease, ageing or congenital defects represents some of the most complex therapeutic challenges and poses a significant financial healthcare burden. Regenerative medicine strategies aim to fulfil the unmet clinical need by restoring the normal tissue function eith...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-60733-7_12
更新日期：2017-01-01 00:00:00
abstract：:During the last decades, the annual numbers of performed solid organ transplants have continuously increased world-wide. Solid organ transplant recipients (OTR) have a greater risk to develop malignancies, with skin cancer representing the most common neoplasia. Additionally, OTRs in general develop a more aggressive ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-0437-2_14
更新日期：2014-01-01 00:00:00
abstract：:MerTK is required for photoreceptor outer segment (POS) phagocytosis by retinal pigment epithelial (RPE) cells, a diurnal function essential for vision maintenance. In vivo, MerTK is stimulated at the time of the phagocytic peak through an intracellular signaling pathway. However, MerTK ligands Gas6 and Protein S are ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-75402-4_70
更新日期：2018-01-01 00:00:00
abstract：:Here, we have demonstrated potent inhibition of allergen-mediated pulmonary inflammation and airway hyper-responsiveness by a novel dual-pronged action of LX's. Moreover, these results indicate that LX's play pivotal and previously unappreciated roles in regulating allergy and pulmonary inflammation. ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-9194-2_5
更新日期：2003-01-01 00:00:00
abstract：:Several possibilities are discussed with regard to the biological potency of gangliosides and related compounds as biological response modifier. Evidence is presented that a ganglioside, GQ1b, but not other gangliosides examined exhibits a strong biological activity at a few nanomolar concentration for the promotion o...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-1200-0_16
更新日期：1984-01-01 00:00:00
abstract：:The Notch signaling pathway is a critical component of vascular formation and morphogenesis in both development and disease. Compelling evidence indicates that Notch signaling is required for the induction of arterial-cell fate during development and for the selection of endothelial tip and stalk cells during sproutin...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-0899-4_16
更新日期：2012-01-01 00:00:00
abstract：:This book highlights contributions from leaders in the field of sigma receptor research. Sigma receptors represent a promising, novel target for the treatment of neurodegenerative diseases, retinal degenerations, pain and substance abuse. Information is presented about tracers for molecular imaging these receptors, th...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-50174-1_1
更新日期：2017-01-01 00:00:00
abstract：:Recent studies suggested that colorectal cancer influences the types and quantity of nucleic acids - especially microRNAs - detected in the bloodstream. Concentration of circulating (cell-free) microRNAs, and possibly of other non-coding RNAs, could therefore serve as valuable colorectal cancer biomarker and could del...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-42059-2_9
更新日期：2016-01-01 00:00:00
abstract：:Epstein-Barr virus (EBV), which is associated with B-cell proliferative disorders, also transforms T- or natural killer (NK)-lineage cells and has been connected with various T- or NK (T/NK)-cell malignancies, such as extranodal NK/T-cell lymphoma-nasal type and aggressive NK-cell leukemia. Chronic active EBV (CAEBV) ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-7230-7_21
更新日期：2018-01-01 00:00:00
abstract：:Multidrug-resistance (MDR), caused by overexpression of either P-glycoprotein (Pgp) or the multidrug-resistance associated protein (MRP), is characterised by a decreased cellular drug accumulation. One form of MDR is the sequestration of the drug inside cytoplasmic vesicles followed by an a exocytotic and/or efflux pr...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-4811-9_17
更新日期：1999-01-01 00:00:00
abstract：:Renewal of rod photoreceptor outer segments in the mammalian eye involves synchronized diurnal shedding after light onset of spent distal outer segment fragments (POS) linked to swift clearance of shed POS from the subretinal space by the adjacent retinal pigment epithelium (RPE). Engulfed POS phagosomes in RPE cells ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-17121-0_95
更新日期：2016-01-01 00:00:00
abstract：:PAF stimulation of NF-kappa B activation and transcription of immediate-early genes have been investigated in peripheral blood mononuclear cells and in transfected Chinese hamster ovary cells expressing the cloned PAF receptor. These studies identified a G protein-coupled pathway for PAF induction of gene expression a...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4899-0179-8_24
更新日期：1996-01-01 00:00:00
abstract：:Labetalol is a drug used in the treatment of hypertensive disorders of pregnancy (HDP). In a previous study we investigated the influence of the maternal use of labetalol on the cerebral autoregulation (CA) mechanism of neonates. In that study, we found that labetalol induces impaired CA during the first day of life, ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4939-0620-8_23
更新日期：2014-01-01 00:00:00
abstract：:Reduced Expression in Immortalized Cell (REIC) was cloned by subtractive hybridization method as a gene whose expression is reduced in many human immortalized and neoplastic tumor cells. The REIC, when over-expressed by an adenovirus (Ad-REIC), exhibited a dramatic therapeutic effect on a wide variety of human cancers...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-0254-1_17
更新日期：2011-01-01 00:00:00
abstract：:The intramural blood vessels and fluid-filled interstitial space form a hydraulic continuum enmeshed by myocardial muscle layers and collagen matrix. Coronary circulation was found to be strongly influenced by passive and active properties of the muscle surrounding the coronary microvasculature. Selective remodeling o...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-2946-0_11
更新日期：1993-01-01 00:00:00
abstract：:The mammalian thioredoxins are a family of small redox proteins that undergo NADPH dependent reduction by thioredoxin reductase. Reduced thioredoxins reduce oxidized cysteine groups on proteins including transcription factors to increase their binding to DNA, and is a source of reducing equivalents for enzymes such as...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-0667-6_21
更新日期：2001-01-01 00:00:00
abstract：:In multicellular organisms the fusion of two gametes with a haploid set of chromosomes leads to the formation of the zygote, the first cell of the embryo. Accurate execution of the meiotic cell division to generate a female and a male gamete is required for the generation of healthy offspring harboring the correct num...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-57127-0_1
更新日期：2017-01-01 00:00:00
