Abstract：
:Autosomal dominant Stargardt3 Macular Dystrophy (STGD3) results from mutations in the ELOVL4 gene. ELOVL4 protein localizes to the endoplasmic reticulum (ER), where it mediates the rate-limiting condensation reaction during very long-chain (VLC, ≥ C28) fatty acid biosynthesis. The defective gene product is truncated at the C-terminus, leading to mislocalization and aggregation in other organelles. In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Logan S,Anderson REdoi
10.1007/978-1-4614-3209-8_57subject
Has Abstractpub_date
2014-01-01 00:00:00pages
447-53eissn
0065-2598issn
2214-8019journal_volume
801pub_type
杂志文章,评审abstract：:Among the vast array of niche exploitation strategies exhibited by millions of different species on Earth, parasitic lifestyles are characterized by extremely successful evolutionary outcomes. Some parasites even seem to have the ability to 'control' their host's behavior to fulfill their own vital needs. Research eff...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-94-007-7347-9_9
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abstract：:Electrical Impedance Tomography (EIT) is a promising application that displays changes in conductivity within a body. The basic principle of the method is the repeated measurement of surface voltages of a body, which are a result of rolling injection of known and small-volume sinusoidal AC current to the body through ...
journal_title：Advances in experimental medicine and biology
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abstract：:Betaherpesvirus possesses a large genome DNA with a lot of open reading frames, indicating abundance in the variety of viral protein factors. Because the complicated pathogenicity of herpesvirus reflects the combined functions of these factors, analyses of individual proteins are the fundamental steps to comprehensive...
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pub_type： 杂志文章
doi：10.1007/978-1-4614-6093-0_26
更新日期：2013-01-01 00:00:00
abstract：:The steady active muscle force is reduced, but the force generation induced by a standard temperature jump becomes 2-3 fold faster with increased inorganic phosphate level, [Pi]. The increase in the rate of force generation also exhibits saturation at higher [Pi] levels and the relation is hyperbolic. These observatio...
journal_title：Advances in experimental medicine and biology
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journal_title：Advances in experimental medicine and biology
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更新日期：2017-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
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更新日期：2020-01-01 00:00:00
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更新日期：2013-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:Acid proteinase of granulomatous tissues in rats with carrageenin-induced inflammation released two types of kinin from T-kininogen. The kinin was identified as Ile-Ser-bradykinin (T-kinin) and a novel kinin, Met-Ile-Ser-bradykinin (Met-T-kinin), from determination of its amino acid composition and its immunoreactivit...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-9546-5_17
更新日期：1989-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-50044-7_18
更新日期：2017-01-01 00:00:00
abstract：:The 1st International Conference on Oral Mucosal Immunity and the Microbiome (OMIM) took place at the Avra Imperial Hotel, Chania, Crete, Greece, between 26th and 30th September 2018, under the auspices of the Aegean Conferences. This was the first Aegean Conference of its kind in thematic oral research, and a unique ...
journal_title：Advances in experimental medicine and biology
pub_type：
doi：10.1007/978-3-030-28524-1_1
更新日期：2019-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-49270-0_8
更新日期：2020-01-01 00:00:00
abstract：:An overall view of the contractile process that has emerged from -temperature-studies on active muscle is outlined. In isometric muscle, a small rapid temperature-jump (T-jump) enhances an early, pre-phosphate release, step in the acto-myosin (crossbridge) ATPase cycle and induces a characteristic rise in force indica...
journal_title：Advances in experimental medicine and biology
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doi：10.1007/978-1-4419-6366-6_14
更新日期：2010-01-01 00:00:00
abstract：:Stem cells provide for all of the tissues in our body during embryogenesis. In adult organisms, they can be found as rare populations of tissue-specific stem cells in quiescent states, although they can still regenerate damaged tissues. Astonishingly, these cells are retained in tissues even post-mortem. There have be...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/5584_2020_492
更新日期：2020-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
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更新日期：2019-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-78952-1_1
更新日期：2008-01-01 00:00:00
abstract：:Although mitochondrial dysfunction, endoplasmic reticulum (ER) stress, and disrupted lipid and calcium (Ca2+) homeostasis are classically associated with both insulin resistance and β-cell dysfunction in type 2 diabetes mellitus (T2DM), the interplay between these metabolic stresses is less known. Both organelles inte...
journal_title：Advances in experimental medicine and biology
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更新日期：2017-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-3369-2_58
更新日期：1978-01-01 00:00:00
abstract：:The solar ultraviolet-B (UVB)/vitamin D/cancer hypothesis was proposed by the brothers Cedric and Frank Garland in 1980. In 2002, the list was increased to 15 types of cancer using data in the 1999 version of the atlas of cancer mortality rates in the United States. Ecological studies of cancer incidence and/or mortal...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-0437-2_4
更新日期：2014-01-01 00:00:00
abstract：:This review of the effects of hemidecortication in humans has been limited to studies of cognitive outcome published during the last 20 years. More directly than in the case of split-brain patients, the patients reviewed here attest to the remarkable ability of a single hemisphere, whether left or right, to support at...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-3420-4_8
更新日期：1992-01-01 00:00:00
abstract：:Memory T-cell generation is limited by activation-induced cell death during the effector T-cell stage. Cell surface proteins are known to transmit signals that either accentuate or limit T-cell death after activation. This chapter will focus on the TNF-receptor family member OX40, which is expressed on effector T cell...
journal_title：Advances in experimental medicine and biology
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更新日期：2010-01-01 00:00:00
abstract：:Based on studies using 3H-DFP as an active site titrant, it is suggested that surface binding in itself does not result in the formation of new active sites in the Hageman factor molecule. Moreover, it was found that surface-binding of human and bovine Hageman factor renders these molecules 100 to 1000 times more susc...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:The expression of thymidine kinase--an enzyme of the DNA precursor pathway--is strictly regulated during the normal cellular cycle, but is much higher and permanently expressed in malignant growing cells. Using a new cytofluorometric assay for thymidine kinase in single cells, we were able to discriminate between norm...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：:Two-component systems (TCSs) are well conserved among E. coli strains, including pathogenic E. coli and also closely related Shigella spp. Although 25% of the genome of pathogenic E. coli is strain-specific, only small number of strain-specific TCSs is found. Regulation of virulence genes in response to environmental ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-78885-2_13
更新日期：2008-01-01 00:00:00
abstract：:The effect of r-TNF on T. musculi is complex. When trypanosomes are incubated in culture with this monokine, TNF exerts a direct anti-trypanosomal effect (Table 3). Similarly, if mice are treated with TNF during the later stages of infection, after the parasitaemia has stabilized, it hastens the elimination of the try...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-5421-6_26
更新日期：1988-01-01 00:00:00
abstract：:Diabetes mellitus (DM) is a metabolic disorder characterised by hyperglycemia and abnormalities in carbohydrate, fat and protein metabolism. Several studies demonstrated that foods typical of the Mediterranean diet (MedDiet), including vegetables, fruits, oilseeds, extra virgin olive oil and fish, can promote health b...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/5584_2020_513
更新日期：2021-01-01 00:00:00
abstract：:Two-component system (TCS) consists of two multi-domain proteins, a sensor histidine kinase (HK) and a response regulator (RR). In response to environmental change, the signal is transduced from HK to RR through phosphoryl transfer. At the first stage of structural biology of TCS, crystallographic and NMR analyses of ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-78885-2_3
更新日期：2008-01-01 00:00:00
