Abstract：
:Paget's disease is a common skeletal disorder with a strong genetic component, which is characterized by focal increases in disorganized bone remodeling, predominantly affecting the axial skeleton. Current evidence suggests that classical Paget's disease of bone (PDB) is caused by a combination of rare alleles of large effect size that cause autosomal dominant inheritance of the disease and more common alleles of smaller effect size. Mutations of SQSTM1 are the most common cause of classical PDB, occurring in about 10% of patients. The causal mutations cluster in the ubiquitin-associated domain and impair its ability to bind ubiquitin. Other loci that predispose to PDB have recently been identified by genome-wide association studies, which have identified variants at seven loci that predispose to the disease. These increase the risk of PDB individually by 1.3- to 1.7-fold, but have combined effects that account for about 86% of the population-attributable risk of PDB in SQSTM1 negative patients.
journal_name
Ann N Y Acad Scijournal_title
Annals of the New York Academy of Sciencesauthors
Ralston SH,Albagha OMdoi
10.1111/j.1749-6632.2011.06228.xsubject
Has Abstractpub_date
2011-12-01 00:00:00pages
53-60eissn
0077-8923issn
1749-6632journal_volume
1240pub_type
杂志文章,评审abstract：:Anticardiolipin antibodies (aCLAs) and antibodies to oxidized-low density lipoproteins (oxLDL) are associated with two distinct diseases: the antiphospholipid syndrome and atherosclerosis. Because both diseases may be apparent in patients with systemic lupus erythematosus (SLE), it is important to establish the relati...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1313.016
更新日期：2005-06-01 00:00:00
abstract：:The Dover sole was the species most often affected with eroded fins. Prevalence of the disease was highest on the Palos Verdes shelf, the site of a major municipal waste water discharge. Fin lesions in this species were characterized by a minimal inflammatory response and by the absence of associated microorganisms. T...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1977.tb19263.x
更新日期：1978-09-29 00:00:00
abstract：:A diagnostic test is particularly beneficial if it reveals the level of susceptibility prior to onset of a disease process. In the case of childhood caries, such a diagnostic test affords the opportunity for preventive measures to be implemented before caries begins. Salivary glycoproteins contain a wealth of individu...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1196/annals.1384.009
更新日期：2007-03-01 00:00:00
abstract：:The aim of this study is to identify immune correlates of protection against tuberculosis induced by the current vaccine, Bacille Calmette Guerin (BCG). This knowledge should be valuable for developing and testing novel tuberculosis vaccines. Blood from 5675 10-week-old South African infants, routinely vaccinated with...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1196/annals.1358.010
更新日期：2005-12-01 00:00:00
abstract：:We found a novel genetic abnormality, heterozygous C-->T nucleotide substitution at position -1138 bp in the 5'-flanking region of the fibrinogen A alpha gene, in patients with hypofibrinogenemia. Luciferase reporter assay using the pGL3-basic vector and CHO cells indicates that the transcriptional activity of a vecto...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.2001.tb03539.x
更新日期：2001-01-01 00:00:00
abstract：:Flavonoids and phenolic acids are widely distributed in higher plants and form part of the human diet. Recent interest in these substances has been stimulated by the potential health benefits arising from the antioxidant activity of these polyphenolic compounds. This review outlines the basic chemistry, biosynthesis, ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1998.tb09922.x
更新日期：1998-11-20 00:00:00
abstract：:The following on molecular mechanisms of Barrett's esophagus and adenocarcinoma contains commentaries on the mechanism of bile and gastric acid induced damage; the roles of BMP-4 and CDX-2 in the development of intestinal metaplasia; the transcription factors driving intestinalization in Barrett's esophagus; the contr...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.2011.06062.x
更新日期：2011-09-01 00:00:00
abstract：:Bone marrow transplantation (BMT) is currently a procedure that is associated with high morbidity and mortality. Thus, the clinical application of this technique is limited to the treatment of life-threatening hematopoietic malignancies. The morbidity and mortality of BMT is mainly related to graft-versus-host disease...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1999.tb08482.x
更新日期：1999-04-30 00:00:00
abstract：:Therapy for mitochondrial diseases is woefully inadequate. How-ever, lack of cure does not equate with lack of treatment. In this review, we consider sequentially several different therapeutic approaches. Palliative therapy is dictated by good medical practice and includes anticonvulsant medication, control of endocri...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1293.023
更新日期：2004-04-01 00:00:00
abstract：:We previously showed that pituitary adenylate cyclase-activating polypeptide (PACAP) potently stimulates insulin secretion in vivo in mice without altering glucose disposal. Such a combination of results would be explained if epinephrine released by PACAP counteracts the action of insulin and, therefore, that the gluc...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.2000.tb06973.x
更新日期：2000-01-01 00:00:00
abstract：:Potato products contain high amounts of acrylamide, which sometimes exceeds the concentration of 1 mg/L. However, many strategies for acrylamide reduction in potato products are possible. In this work, the different approaches for reducing acrylamide formation have been reviewed, keeping in mind that in the applicatio...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1196/annals.1433.051
更新日期：2008-04-01 00:00:00
abstract：:The mechanism by which neurons and neurosecretory cells govern the expression and the exocytic discharge of their clear and dense-core vesicles had remained unclear until recently when studies in the neurosecretory cell model PC12 revealed these processes to be orchestrated by the transcriptional repressor neuron rest...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.2008.03988.x
更新日期：2009-01-01 00:00:00
abstract：:Altered metabolism of the Alzheimer's amyloid precursor protein (APP) appears to be a key event in the pathogenesis of Alzheimer's disease (AD), and both altered phosphorylation and oxidative stress appear to affect the production of the toxic Abeta fragment. Our results show that altered processing of APP was observe...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1397.085
更新日期：2007-01-01 00:00:00
abstract：:We examined the effects of a nonantimicrobial tetracycline analogue, CMT-8, on bone loss and osteoclasts in ovariectomized (OVX) rats. Three-month-old female rats were OVX, and, one week later, distributed into three groups: sham-operated non-OVX controls, untreated OVX controls, and CMT-8-treated OVX rats. After 145 ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1999.tb07694.x
更新日期：1999-06-30 00:00:00
abstract：:Copper is an essential nutrient for the physiology of live organisms, but excessive copper can be harmful. Copper radioisotopes are used for measurement of copper fluxes in live organisms using a radioactivity assay of body fluids or whole-body positron emission tomography (PET). Hybrid positron emission tomography-co...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/nyas.12383
更新日期：2014-05-01 00:00:00
abstract：:The amygdala and orbitofrontal cortex (OFC) are often thought of as components of a neural circuit that assigns affective significance--or value--to sensory stimuli so as to anticipate future events and adjust behavioral and physiological responses. Much recent work has been aimed at understanding the distinct contrib...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1401.034
更新日期：2007-12-01 00:00:00
abstract：:It has been proposed that spacetime should be regarded as an evolving block universe, bounded to the future by the present time, which continually extends to the future. This future boundary is defined at each time by measuring proper time along Ricci eigenlines from the start of the universe. A key point, then, is th...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/nyas.12559
更新日期：2014-10-01 00:00:00
abstract：:The endogenous serum metabolite of vitamin D (calcitriol, 1,25(OH)2 D3 ) is considered a true steroid hormone (D hormone), and like glucocorticoids (GCs) and gonadal hormones, may exert several immunomodulatory activities. Serum vitamin D deficiency (25(OH) D), and therefore reduced 1,25(OH)2 D3 availability, is consi...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/nyas.12432
更新日期：2014-05-01 00:00:00
abstract：:These studies demonstrate that photochemotherapy can be successfully evaluated in animal models. The therapy mediates specific suppression of immune responses and appears to operate at the level of the effector T cells. Future studies will focus on isolation and characterization of the host response to photochemothera...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1991.tb33457.x
更新日期：1991-12-30 00:00:00
abstract：:"Vascular anomalies" represents a spectrum of vascular lesions, of unclear etiology and often with unpredictable behavior. Patients with vascular anomalies represent a unique population, in that they have focal aberrations of vascular development (in vascular malformations) or vascular proliferation (in hemangiomas). ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1196/annals.1413.016
更新日期：2008-01-01 00:00:00
abstract：:Purified human urinary CSF-1 was used for production of polyclonal CSF antibodies in rabbits. The purified CSF was iodinated by a modified chloramine-T technique with retention of biologic activity. Dilutions of anti-CSF were reacted with 15,000 cpm of 125I-CSF in EDTA-phosphate buffer for 48 hr. Sheep antirabbit seru...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1111/j.1749-6632.1989.tb22417.x
更新日期：1989-01-01 00:00:00
abstract：:An aqueous solution of L-glutamine (50 mmol/L) and methylglyoxal (100 mmol/L) was incubated at 120 degrees C for 3 h in a 200 mmol/L phosphate buffer (pH 7.4). Four major fluorophores were revealed on the HPLC chromatogram. The same four fluorophores were obtained from the heating of a mixture of ammonia and methylgly...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章
doi：10.1196/annals.1433.025
更新日期：2008-04-01 00:00:00
abstract：:Enhancer DNA decoy oligonucleotides (ODNs) inhibit transcription by competing for transcription factors. A decoy ODN composed of the cAMP response element (CRE) inhibits CRE-directed gene transcription and tumor growth without affecting normal cell growth. We used DNA microarrays to analyze the global gene expression ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1196/annals.1281.011
更新日期：2003-12-01 00:00:00
abstract：:Esophageal symptoms are common, and can arise from mucosal, motor, functional, and neoplastic processes, among others. Judicious use of diagnostic testing can help define the etiology of symptoms and can direct management. Endoscopy, esophageal high-resolution manometry (HRM), ambulatory pH or pH-impedance manometry, ...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/nyas.13709
更新日期：2018-12-01 00:00:00
abstract：:Endothelial cells produce and bind to multiple basement membrane components. Fibronectin and interstitial collagens seem to promote migration and proliferation, whereas basement membrane collagen and laminin stimulate attachment and differentiation. Human umbilical vein endothelial cells will rapidly form capillary-li...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1990.tb13197.x
更新日期：1990-01-01 00:00:00
abstract：:To summarize (Fig. 10), the structural consequences of monocular deprivation include the following changes: the relay cells in the binocular segments of the deprived geniculate layers shrink and contain less of the possible neurotransmitter NAAG. These changes appear to be secondary to a loss of terminal synaptic arbo...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1991.tb25926.x
更新日期：1991-01-01 00:00:00
abstract：:We compare the evidence from human neuroimaging studies for and against two of the major hypotheses of how alterations in the brain's reward system underlie addiction. One of these, the impulsivity hypothesis, proposes that addiction is characterized by excessive sensitivity to reward combined with a failure of inhibi...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.2010.05898.x
更新日期：2011-01-01 00:00:00
abstract：:Venous ulcers are responsible for about 70% of the chronic ulcers of the lower limbs. Standard of care includes compression, dressings, debridement of devitalized tissue, and infection control. Thymosin beta 4 (Tbeta4), a synthetic copy of the naturally occurring 43 amino-acid peptide, has been found to have wound hea...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1111/j.1749-6632.2010.05490.x
更新日期：2010-04-01 00:00:00
abstract：:The formation of metastasis is a dreadful complication of cancer that is associated with a poor prognosis. Several clinical observations and experimental findings indicate that the metastatic process is nonrandom and involves a sequence of multistep events that may all be targeted for therapy. This includes angiogenes...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.2002.tb04702.x
更新日期：2002-11-01 00:00:00
abstract：:This review focuses on the importance of bradykinin in myocardial preservation during ischemic arrest. Bradykinin is released from the heart spontaneously in response to ischemic stress, which may be viewed as a survival signal of the heart against ischemia. Bradykinin appears to function as a signaling molecule by co...
journal_title：Annals of the New York Academy of Sciences
pub_type： 杂志文章,评审
doi：10.1111/j.1749-6632.1999.tb09244.x
更新日期：1999-06-30 00:00:00
