Abstract：
:Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Heterozygous mutations in the cohesin regulator, NIPBL, or the cohesin structural components SMC1A and SMC3, have been identified in approximately 65% of individuals with CdLS. Cohesin regulates sister chromatid cohesion during the mitotis and meiosis. In addition, cohesin has been demonstrated to play a critical role in the regulation of gene expression. Furthermore, multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double strand DNA break repair, chromatin remodeling and maintaining genomic stability. Here, we will discuss the biology ofcohesin and its associated factors, with emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS related proteins.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Liu J,Baynam Gsubject
Has Abstractpub_date
2010-01-01 00:00:00pages
111-23eissn
0065-2598issn
2214-8019journal_volume
685pub_type
杂志文章,评审abstract：:Anumber of observations have lent support to a model in which thermal stress is transduced into a signal at the level of the cellular membranes. Our alternative, but not exclusive, approach is based on the concept that the initial stress-sensing events are associated with the physical state and lipid composition of ce...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-39975-1_11
更新日期：2007-01-01 00:00:00
abstract：:Jørgensen and Dau (J Acoust Soc Am 130:1475-1487, 2011) proposed the speech-based envelope power spectrum model (sEPSM) in an attempt to overcome the limitations of the classical speech transmission index (STI) and speech intelligibility index (SII) in conditions with nonlinearly processed speech. Instead of consideri...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-1590-9_38
更新日期：2013-01-01 00:00:00
abstract：:Measurements demonstrating low-frequency underwater sound attenuation using arrays of large, tethered, stationary encapsulated bubbles to surround a sound source were compared with various effective medium models for the acoustic dispersion relationship in bubbly liquids. Good agreement was observed between measuremen...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4939-2981-8_73
更新日期：2016-01-01 00:00:00
abstract：:Escherichia coli is one of the most-studied species of bacteria due to its frequent incidence in diverse environments and hosts, as well as its use as a tool in molecular biology. Most E. coli strains are commensal, in that they colonize the host without causing disease; however, some strains of E. coli are pathogens ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-20215-0_9
更新日期：2016-01-01 00:00:00
abstract：:From the biochemical and developmental data in the literature, there appears to be some specific relationship of gangliosides to synapses. Whether the concentration of polysialo-gangliosides is located in the immediately pre-synaptic part of the neuronal plasma membrane is not known. There are many unanswered question...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-4614-9_9
更新日期：1976-01-01 00:00:00
abstract：:Following analysis of sequenced genomes and transcriptome of many eukaryotes, it is evident that virtually all protein-coding genes have already been discovered. These advances have highlighted an intriguing paradox whereby the relative amount of protein-coding sequences remain constant but nonprotein-coding sequences...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-5203-3_6
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/0-387-33778-4_13
更新日期：2006-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-0437-2_4
更新日期：2014-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-25304-6_13
更新日期：2016-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-7299-9_6
更新日期：2017-01-01 00:00:00
abstract：:Taurine has been suggested to have cytoprotective actions via a number of different mechanisms. The role of taurine in protecting DNA from oxidative damage has received only limited attention. The aim of the present studies was to test the hypothesis that taurine might act to attenuate oxidative damage to DNA caused b...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/0-306-46838-7_40
更新日期：2000-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-69080-3_65
更新日期：2008-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-0075-9_2
更新日期：2003-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-9966-8_62
更新日期：1997-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-43624-1_19
更新日期：2016-01-01 00:00:00
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journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-7411-1_62
更新日期：2013-01-01 00:00:00
abstract：:The in vitro response of early haematopoietic progenitors or stem cells (CD34+)--common for myeloid (granulocyte, eosinophil, megakaryocyte) and marrow stromal cell lineages, to neopterin, exogenously added to the liquid mouse bone marrow cultures, at doses 12.5-25 microg/ml culture medium, has been studied. The resul...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-34133-0_8
更新日期：2006-01-01 00:00:00
abstract：:The effects of taurine and chelerythrine (CHT) on ATP-dependent calcium uptake and the phosphorylation of the approximately 20 kDa phosphoprotein in the retina were compared. In the absence of the CHT, taurine stimulated ATP-dependent calcium uptake and attenuated the phosphorylation of the approximately 20 kDa phosph...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-0117-0_53
更新日期：1998-01-01 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：10.1007/978-3-319-41388-4_17
更新日期：2016-01-01 00:00:00
abstract：:The fate and disposition of melatonin released into the circulation is still poorly understood, and almost all current knowledge is derived from measurements made after one single, often very large dose of labeled melatonin. In continuous infusion experiments in freely moving rats, 500 ng melatonin/mL hr had to be inf...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-4709-9_39
更新日期：1999-01-01 00:00:00
abstract：:Differences between serum and plasma complement, which now is called as the cold activation of complement, was investigated in relation with the phenomenon reported as the cold promoted activation of factor VII, to which kallikrein and Hageman factor are known to participate. Despite the presence of several similariti...
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 term activation is used to designate biochemical and functional changes that are induced in macrophages by a variety of stimuli, including interaction with microbial products, synthetic substances, immunoglobulins of different classes, and factors released by lymphocytes. The changes observed comprise an increased...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-4394-3_74
更新日期：1982-01-01 00:00:00
abstract：:The analysis of complex biological networks has traditionally relied on decomposition into smaller, semi-autonomous units such as individual signaling pathways. With the increased scope of systems biology (models), rational approaches to modularization have become an important topic. With increasing acceptance of de f...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-7210-1_1
更新日期：2012-01-01 00:00:00
abstract：:Comparative analysis of the genomic sequences of multiple hepatitis E virus (HEV) isolates has revealed extensive genomic diversity among them. Recently, a variety of genetically distinct HEV variants have also been isolated and identified from large numbers of animal species, including birds, rabbits, rats, ferrets, ...
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pub_type： 杂志文章,评审
doi：10.1007/978-94-024-0942-0_5
更新日期：2016-01-01 00:00:00
abstract：:Lymphocyte development and ontogenetic changes in erythroid cells have been studied in chick-chick yolk sac-embryo chimeras constructed of histoincompatible partners. The results obtained indicate that the early chick yolk sac produces transiently erythroid stem cells whereas definitive erythrocytes are derived from t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-9066-4_2
更新日期：1982-01-01 00:00:00
abstract：:Two species of T-kininogen which release T-kinin (Ile-Ser-bradykinin) have been purified from plasma of rats treated with Freund's complete adjuvant. The molecular weight was estimated to be 69,000 for either T-kininogen I and II by SDS-polyacrylamide gel electrophoresis. Trypsin released one mole of T-kinin from one ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-5143-6_10
更新日期：1986-01-01 00:00:00
abstract：:Oligomeric proteins can be intramolecularly cross-linked with polylysine in a reaction in which a water soluble carbodiimide mediates an amide linkage between the protein carboxyl groups and the epsilon-amino groups of polylysine. Studies carried out with a cytochrome p-450 indicate that a small number of molecules in...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-3282-4_39
更新日期：1977-01-01 00:00:00
abstract：:The power of the heart is dictated by the force development and velocity of shortening (V) of the cardiac sarcomere. Both depend on the amount of Ca++ released by the sarcoplasmic reticulum during the action potential. We have investigated the inter-relationship between force (F) sarcomere length (SL) and V and the in...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-1893-8_14
更新日期：1995-01-01 00:00:00
abstract：:The development of secretory IgA was followed in saliva of 263 children from birth to age 5, and in cross sectional studies of Australian school children and Papua New Guinea highland children from birth to age 5. Salivary IgA first appeared after the first week of life, peaking at 6 weeks, and falling again at 12 wee...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-3838-7_9
更新日期：1991-01-01 00:00:00
