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1.
Curr Psychol ; : 1-14, 2023 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-37359583

RESUMO

A longitudinal psycholinguistic study was conducted with 107 students from different Italian universities that produced daily photo-diary entries for two weeks, one at the beginning and the other at the end of the first Italian lockdown period, imposed in view of the rapid dissemination of COVID -19. The task was to take a daily photo accompanied by a short description (text). The texts accompanying the photos were analysed using Linguistic Inquiry and Word Count (LIWC) software to analyze linguistic markers representing psychological processes related to the experience of the pandemic and the lockdown, identifying potential changes in psycholinguistic variables useful for understanding the psychological impact of such harsh and extended restricted living conditions on Italian students. LIWC categories related to negation, anger, cognitive mechanisms, tentative discourse, past, and future increased statistically significantly between the two time points, while word count, prepositions, communication, leisure, and home decreased statistically significantly. While male participants used more articles at both time points, females used more words related to anxiety, social processes, past, and present at T1 and more related to insight at T2. Participants who lived with their partner showed higher scores on negative emotions, affect, positive feelings, anger, optimism, and certainty. Participants from southern Italy tended to describe their experiences from a collective and social perspective rather than an individual perspective. By identifying, discussing, and comparing these phenomena with the broader literature, a spotlight is shed for the first time on the psycholinguistic analysis of students at the national level who faced the first COVID -19 lockdown in Italy.

2.
G Chir ; 36(1): 36-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25827669

RESUMO

Alloplastic replacement has become a valid treatment for TMJ endstage disease. The Alkayat and Bramley pre-auricular approach combined with the submandibular incision are the current surgical approaches for TMJ surgery. The present study shows a modified approach using intraoral endoscopic assistance. A female patient affected by jaw osteomielitis with condylar detachment was treated with total left TMJ alloplastic replacement combined with a right TMJ arthroplasty. No subamandibular incision was performed and, subsequently, the risks for permanent or temporary damage to the marginalis mandibulae nerve and surgical submandibular scar were avoided. Postoperative CT-Scan evidenced a good prosthesis position. No complications occurred after two years of follow-up.


Assuntos
Artroplastia de Substituição/métodos , Esofagoscopia , Osteomielite/cirurgia , Articulação Temporomandibular/cirurgia , Adulto , Esofagoscopia/métodos , Feminino , Humanos , Desenho de Prótese , Resultado do Tratamento
3.
G Chir ; 34(5-6): 176-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23837959

RESUMO

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.


Assuntos
Síndrome do Nevo Basocelular/diagnóstico , Idoso , Humanos , Masculino
4.
G Chir ; 34(1-2): 18-20, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23463927

RESUMO

We report a case of parotid gland oncocytoma in a patient with chronic infection from hepatitis C virus (HCV) and associated non-Hodgkin's lymphoma and xerophthalmia. Our case confirms the triple tropism of the HCV: hepatotropism, lymphotropism and sialotropism.


Assuntos
Adenoma Oxífilo/complicações , Hepatite C/complicações , Linfoma não Hodgkin/complicações , Neoplasias Parotídeas/complicações , Idoso , Feminino , Humanos
5.
Int J Surg Case Rep ; 2013 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-25266136

RESUMO

This article has been withdrawn at the request of the authors and editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.

6.
G Chir ; 34(9-10): 271-4, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24629814

RESUMO

Myositis Ossificans (MO) is an unusual pathological entity still largely unknown, characterized by dystrophic calcification leading to heterotopic ossification of intramuscular connective tissue. The masticatory muscles are exceptionally involved. Four distinct types of myositis ossificans have been described: MO Progressiva, which is a genetic disorder involving several muscular groups; MO Circumscripta, limited to a single muscle and generally due to calcification of an intramuscular haematoma following severe trauma and progressive ossification; MO Pseudo-malignant limited to soft tissue and not associated to any trauma; MO associated to paraplegia. A case of circumscribed myositis ossificans of the masseter muscle in a 62 years-old woman is reported.


Assuntos
Músculo Masseter/diagnóstico por imagem , Músculo Masseter/patologia , Miosite Ossificante/diagnóstico , Feminino , Humanos , Músculo Masseter/cirurgia , Pessoa de Meia-Idade , Boca , Miosite Ossificante/diagnóstico por imagem , Miosite Ossificante/patologia , Miosite Ossificante/cirurgia , Cirurgia Endoscópica por Orifício Natural/métodos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
7.
Dentomaxillofac Radiol ; 41(5): 432-5, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22116125

RESUMO

Inflammatory pseudotumour (IPT) is an uncommon disease with undefined pathogenesis. It is often characterized by local aggressiveness with compressive and displacing effects on surrounding structures. It may appear in different regions of the body, rarely involving perineural structures unilaterally. We present a case of a bilateral IPT around trigeminal branches in a patient with a long-term history of periorbital swelling and proptosis.


Assuntos
Exoftalmia/patologia , Granuloma de Células Plasmáticas/diagnóstico , Nervo Trigêmeo/patologia , Adulto , Diagnóstico Diferencial , Granuloma de Células Plasmáticas/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios X
8.
Diabetologia ; 54(4): 812-8, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21229348

RESUMO

AIMS/HYPOTHESIS: Insulin resistance is associated with reduced serum adiponectin and increased albuminuria levels. Thus, one would anticipate an inverse relationship between circulating adiponectin and albuminuria. However, several studies have described a 'paradoxical' elevation of serum adiponectin in patients with elevated albuminuria. These findings may have been confounded by the presence of diseases and related treatments known to affect circulating adiponectin and albuminuria. We therefore studied the relationship between circulating adiponectin and albuminuria in the absence of such confounders. METHODS: To this purpose, the relationship between adiponectin isoforms and albumin:creatinine ratio (ACR) was investigated in a family-based sample of 634 non-diabetic untreated white individuals with normal kidney function. We also investigated whether the two variables share a common genetic background and addressed the specific role of the gene encoding adiponectin on that background by genotyping several ADIPOQ single nucleotide polymorphisms (SNPs). RESULTS: ACR was directly associated with high molecular weight (HMW) adiponectin isoform (p = 0.024). The two variables shared some genetic correlation (ρ(g) = 0.38, p = 0.04). ADIPOQ promoter SNP rs17300539 was associated with HMW adiponectin (p = 4.8 × 10(-5)) and ACR (p =0.0027). The genetic correlation between HMW adiponectin and ACR was no longer significant when SNP rs17300539 was added to the model, thus reinforcing the role of this SNP in determining both traits. CONCLUSIONS/INTERPRETATION: Our study shows a positive, independent correlation between HWM adiponectin and ACR. ADIPOQ variability is associated with HMW adiponectin and ACR, and explains some of the common genetic background shared by these traits, thus suggesting that ADIPOQ and HMW adiponectin modulate albuminuria levels.


Assuntos
Adiponectina/sangue , Adiponectina/genética , Albuminúria/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Creatinina/urina , Cistatina C/sangue , Ensaio de Imunoadsorção Enzimática , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Peso Molecular , Nefelometria e Turbidimetria , Polimorfismo de Nucleotídeo Único/genética , Isoformas de Proteínas/sangue , Isoformas de Proteínas/genética , Adulto Jovem
9.
J Intern Med ; 267(3): 287-94, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19761474

RESUMO

OBJECTIVE: Reduced circulating adiponectin levels contribute to the aetiology of insulin resistance. Adiponectin circulates in three different isoforms: high molecular weight (HMW), medium molecular weight (MMW) and low molecular weight (LMW) isoforms. The genetics of adiponectin isoforms is mostly unknown. Our aim was to investigate whether and to which extent circulating adiponectin isoforms are heritable and whether they share common genetic backgrounds with insulin resistance-related traits. METHODS: In a family-based sample of 640 nondiabetic White Caucasians from Italy, serum adiponectin isoforms concentrations were measured by ELISA. Three single nucleotide polymorphisms (SNPs) in the ADIPOQ gene previously reported to affect total adiponectin levels (rs17300539, rs1501299 and rs677395) were genotyped. The heritability of adiponectin isoform levels was assessed by variance component analysis. A linear mixed effects model was used to test the association between SNPs and adiponectin isoforms. Bivariate analyses were conducted to study genetic correlations between adiponectin isoforms levels and other insulin resistance-related traits. RESULTS: All isoforms were highly heritable (h(2) = 0.60-0.80, P = 1.0 x 10(-13)-1.0 x 10(-23)). SNPs rs17300539, rs1501299 and rs6773957 explained a significant proportion of HMW variance (2-9%, P = 1.0 x 10(-3)-1.0 x 10(-5)). In a multiple-SNP model, only rs17300539 and rs1501299 remained associated with HMW adiponectin (P = 3.0 x 10(-4) and 2.0 x 10(-2)). Significant genetic correlations (P = 1.0 x 10(-2)-1.0 x 10(-5)) were observed between HMW adiponectin and fasting insulin, homeostasis model assessment of insulin resistance, HDL cholesterol and the metabolic syndrome score. Only rs1501299 partly accounted for these genetic correlations. CONCLUSION: Circulating levels of adiponectin isoforms are highly heritable. The genetic control of HMW adiponectin is shared in part with insulin resistance-related traits and involves, but is not limited to, the ADIPOQ locus.


Assuntos
Resistência à Insulina/genética , Polimorfismo de Nucleotídeo Único , Adiponectina/sangue , Adiponectina/química , Adiponectina/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Genótipo , Homeostase , Humanos , Insulina/sangue , Itália/etnologia , Masculino , Pessoa de Meia-Idade , Modelos Biológicos , Peso Molecular , Isoformas de Proteínas/química , Isoformas de Proteínas/genética , População Branca/genética , Adulto Jovem
11.
Physiol Genomics ; 19(2): 170-4, 2004 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-15252189

RESUMO

Adiponectin is a circulating enhancer of insulin action that is secreted by the adipose tissue. In epidemiological studies, serum levels of this protein predict the risk of type 2 diabetes and cardiovascular events. Serum adiponectin levels have been associated with variants at the adiponectin (APM1) and PPARgamma2 loci and have also been linked to markers on 5p15 and 14q13. We investigated the role of these four loci in regulating serum adiponectin in a Caucasian population from Italy. Four haplotype-tagging single-nucleotide polymorphisms (ht-SNPs) (-11377 C>G, -4041 A>C, +45 T>G, and +276 G>T) at the APM1 locus and the PPARgamma2 Pro12Ala polymorphism were examined for association with serum adiponectin in 413 unrelated, nondiabetic individuals. Of the five SNPs tested, +276G>T was the only one to be associated with serum adiponectin (P = 0.032), with "TT" individuals having higher adiponectin levels than other subjects. In a variance-components analysis of 737 nondiabetic members of 264 nuclear families, adiponectin heritability was 30%, with a small but significant proportion explained by the +276 genotype ( P = 0.0034). Suggestive evidence of linkage with adiponectin levels was observed on chromosome 14q13, with a LOD of 2.92 (P = 0.000057) after including the APM1 +276 genotype in the model. No linkage was observed at 5p15. Our data indicate a strong genetic control of serum adiponectin. A small proportion of this can be attributed in our population to variability at the APM1 locus, but an as yet unidentified gene on 14q13 appears to play a much bigger role.


Assuntos
Cromossomos Humanos Par 14/genética , Peptídeos e Proteínas de Sinalização Intercelular/sangue , Peptídeos e Proteínas de Sinalização Intercelular/genética , Família Multigênica/genética , Adiponectina , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Glicemia/genética , Jejum , Feminino , Ligação Genética/genética , Genótipo , Haplótipos/genética , Humanos , Itália , Masculino , Pessoa de Meia-Idade
12.
Biopolymers ; 74(1-2): 120-4, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15137108

RESUMO

The proposed curative properties of Cu-based nonsteroidal anti-inflammatory drugs (NSAIDs) have led to the development of numerous Cu(II) complexes of NSAIDs with enhanced anti-inflammatory activity. Crystalline complexes, Cu(II)-NSAID (ibuprofen, naproxen, tolmetin, and diclofenac), with a carboxylic function have been studied by means of infrared and Raman spectroscopy. All NSAIDs bind the metal through the carboxylate group. On the basis of the comparison between the wavenumber of the COO(-) group vibrations and Delta nu (nu(asimm)COO(-) - nu(simm)COO(-)) between Na salts and Cu(II) complexes, conclusions on the probable structure of the complexes have been drawn. The spectroscopic data support the formation of dimeric [Cu(2)L(4)(H(2)O)(2)] complexes in which the COO(-) group behaves as a bridging bidentate ligand. The low wavenumber region of the Raman spectrum provided information on Cu-O and Cu-Cu bonds in the complexes. Thermogravimetric results gave further support to the vibrational data.


Assuntos
Anti-Inflamatórios não Esteroides/farmacologia , Cobre/química , Espectrofotometria/métodos , Cristalografia por Raios X , Diclofenaco/farmacologia , Dimerização , Ibuprofeno/farmacologia , Modelos Químicos , Naproxeno/farmacologia , Oxigênio/química , Ligação Proteica , Sódio/química , Análise Espectral Raman/métodos , Temperatura , Termogravimetria , Tolmetino/farmacologia , Raios Ultravioleta
13.
J Mol Med (Berl) ; 81(11): 718-23, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14574455

RESUMO

Insulin resistance is believed to be under the control of several genes often interacting each other. However, whether genetic epistasis does in fact modulate human insulin sensitivity is unknown. In 338 healthy unrelated subjects from Sicily, all nondiabetic and not morbidly obese, we investigated whether two gene polymorphisms previously associated with insulin resistance (namely PC-1 K121Q and PPARgamma2 P12A) affect insulin sensitivity by interacting. PC-1 X121Q subjects showed higher level of fasting glucose, lower insulin sensitivity (by both the Matsuda insulin sensitivity index and M values at clamp, the latter performed in a subgroup of 113 subjects representative of the overall cohort) and higher insulin levels during the oral glucose tolerance test (OGTT) than PC-1 K121K subjects. In contrast, no difference in any of the measured variables was observed between PPARgamma2 P12P and X12A individuals. The deleterious effect of the PC-1 X121Q genotype on each of these three variables was significant and entirely dependent upon the coexistence of the PPARgamma2 P12P genotype. Among PPARgamma2 P12P carriers also fasting insulin and glucose levels during OGTT were higher in PC-1 X121Q than in K121K individuals. In contrast, no deleterious effect of the PC-1 X121Q genotype was observed among PPARgamma2 X12A carriers; rather, in these subjects a lower body mass index and consequently lower fasting insulin level was observed in PC-1 X121Q than in K121K carriers. Overall, a significant interaction between the two genes was observed on body mass index, insulin levels (both fasting and after OGTT) and both insulin sensitivity (i.e., insulin sensitivity index and M value) and insulin secretion (i.e., HOMA-B%) indexes.


Assuntos
Resistência à Insulina/genética , PPAR gama/genética , Diester Fosfórico Hidrolases/genética , Polimorfismo Genético/genética , Pirofosfatases/genética , Adulto , Glicemia/metabolismo , Feminino , Humanos , Masculino , Obesidade Mórbida/genética , Polimorfismo de Nucleotídeo Único/genética , Valores de Referência
14.
Biopolymers ; 72(4): 290-8, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12833484

RESUMO

A comparative Raman and FTIR study of histamine (Hm), a small hormone present in a wide selection of living organisms, and its complexes with copper(II) at different pH values was carried out. Both the Raman and IR spectra present some marker bands useful for the identification of the structure of the species predominating in the Cu(II) aqueous and alcoholic systems. In particular, Raman spectroscopy appears to be a useful tool for analyzing the tautomeric equilibrium of the imidazole ring of Hm, because some bands (i.e., nuC(4)dbond;C(5)) appear at different wavenumbers, depending on whether the imidazole moiety is in the N(tau)-H (tautomer I) or N(pi)-H (tautomer II) protonated form. In aqueous solutions the manner in which Hm binds to Cu(II) depends on the pH. At basic pH the most relevant species formed are a dimer, [Cu(2)L(2)H(-2)](2+), and a monomeric complex, [CuL](2-) or [CuL(2)](+). On the contrary, by decreasing the pH, Hm acts as a mono- or bidentate ligand, giving rise to two types of monomeric complexes, [CuLH](2-) and [CuL](2-) or [CuL(2)](+). With respect to the Cu(II)-Hm alcoholic system, both the aminic group and the imidazole ring (tautomer I) take part in the Cu(II) coordination, leading to the formation of the [CuL](2-) or [CuL(2)](+) monomeric complex.


Assuntos
Cobre/metabolismo , Histamina/química , Histamina/metabolismo , Concentração de Íons de Hidrogênio , Ligantes , Modelos Moleculares , Conformação Molecular , Espectrofotometria Infravermelho , Análise Espectral Raman
15.
Biopolymers ; 72(2): 86-95, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12583011

RESUMO

Lipids from human renal tissues are studied by means of (1)H- and (13)C-NMR spectroscopy. The total lipid fractions obtained from healthy kidneys, malignant renal cell carcinomas, and benign oncocytomas are characterized and analyzed to elucidate the main differences between the functional and neoplastic tissues. In all cases the lipid components are well identified. The healthy kidney is characterized by high amounts of triglycerides and the presence of cholesterol in its free form. On the contrary, renal cell carcinomas contain high amounts of cholesterol that are almost completely esterified as oleate, suggesting an intracellular localization of the cholesteryl esters synthesis. Cholesteryl esters are considered markers of renal cell carcinomas, thus supporting recent theories that these compounds play a leading role in cell proliferation. Oncocytomas are particularly rich in phosphatidylcholine and, analogous to the healthy kidney, are completely lacking in cholesteryl esters. Healthy kidneys and oncocytomas appear to have other similarities if compared with renal cell carcinomas: a very high fatty acyl/cholesterol ratio, the presence of dolichols, and a higher grade of unsaturation. The (13)C data suggest a new method for the direct evaluation of the saturated/unsaturated fatty acyl ratio.


Assuntos
Rim/química , Lipídeos/análise , Espectroscopia de Ressonância Magnética/métodos , Carcinoma de Células Renais/química , Humanos , Lipídeos/química
16.
Interv Neuroradiol ; 9(3): 249-54, 2003 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-20591250

RESUMO

SUMMARY: Two Landrace Large White swine underwent angiography by the femoral route. In both cases, the superior left renal artery was embolized by injection of 2 ml of Glubran 2((R)), diluted with Lipiodol 1:1 thereby excluding the superior left kidney poles from blood flow. During the follow-up period, neither pig presented any clinical symptom correlated to the embolization procedure. Case 1 was sacrificed after 30 days and case 2 after 60 days. Macroscopic and microscopic analysis was performed in both animals. Long-term follow-up of the two cases after endovascular injection of Glubran 2((R)) showed that the embolization procedure was well-tolerated by the swine in terms of clinical symptoms and histological findings. Arterial occlusion was stable and a reasonable quantity of scar tissue appeared between 30 and 60 days, surrounding the ischaemic tissue. This follow-up experimental study offers further evidence that Glubran 2((R)) is a safe embolizing material for human use as far as its chemical activity is concerned.

17.
Biomaterials ; 23(24): 4839-46, 2002 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12361624

RESUMO

Due to its excellent combination of properties, ultra-high-molecular-weight-polyethylene has been used for the last 30 years in the replacement of damaged articulating cartilage for total joint replacement surgery. However, in some cases, wear, failure and delamination have been observed. Polyethylene performance may be affected by oxidation during consolidation of the resin, sterilisation of the finished specimens and post-irradiation storage. In order to evaluate the influence of the sterilisation method (gamma-irradiation and ethylene oxide(EtO)-treatment) and third-body particles on the ultra-high-molecular-weight-polyethylene wear behaviour, gamma- and EtO-sterilised ultra-high-molecular-weight-polyethylene acetabular cups were tested against CoCrMo femoral heads in a hip joint simulator run for 2.5 million cycles in bovine calf serum in the presence of third-body PMMA particles. Weight loss measurements revealed that the gamma-sterilised acetabular cups exhibited a significantly lower wear rate than those EtO-sterilised. Moreover, significant differences were found for each type of sterilisation between the gravimetric wear trends obtained until 2.5 million cycles in the presence and in the absence of PMMA particles.


Assuntos
Óxido de Etileno/farmacologia , Raios gama , Polietilenos/química , Esterilização/métodos , Absorção , Animais , Artroplastia de Quadril/métodos , Bovinos , Fêmur , Prótese de Quadril , Teste de Materiais , Microscopia Eletrônica de Varredura , Desenho de Prótese
18.
Biopolymers ; 67(1): 70-81, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-11842416

RESUMO

Raman and IR studies are carried out on carnosine (beta-alanyl-L-histidine, Carnos) and its complexes with cobalt(II) at different metal/ligand ratios and basic pH. Binuclear complexes that bind molecular oxygen are formed and information regarding the O-O bridge is obtained from the Raman spectra. When the Co(II)/Carnos ratio is

Assuntos
Carnosina/química , Cobalto/química , Oxigênio/química , Espectroscopia de Infravermelho com Transformada de Fourier/métodos , Análise Espectral Raman/métodos , Carnosina/metabolismo , Quelantes/química , Cobalto/metabolismo , Concentração de Íons de Hidrogênio , Imidazóis/metabolismo , Ligantes , Substâncias Macromoleculares , Modelos Moleculares , Nitrogênio/metabolismo , Oxigênio/metabolismo , Peptídeos/química , Prótons , Estereoisomerismo
19.
Int J Mol Med ; 9(3): 299-310, 2002 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11836637

RESUMO

The clinical impact of (1)H NMR spectroscopy in the study of human organs, brain and kidney in particular, is well demonstrated. The in vitro (1)H NMR technique is a powerful tool for monitoring changes in intracellular metabolites of human normal and neoplastic cerebral and renal tissues. Healthy and tumoral tissues of different histologic types have been fully characterized from a biochemical standpoint. Molecular characterization is performed on both the aqueous and lipid extracts of surgically removed tissue biopsies yielding a full picture of tissue biochemistry. These analyses have disclosed markers of healthy brain and kidney and of their respective neoplastic lesions. Moreover, some biochemical features can differentiate neoplasms within the same histological type. In particular, lipidic components, like cholesteryl esters (namely oleate), detected in highest grade tumors, warrant further investigation. A better understanding of the biochemistry of diseased human tissues could open the way to new diagnostic and treatment strategies.


Assuntos
Neoplasias Encefálicas/química , Neoplasias Renais/química , Rim/química , Espectroscopia de Ressonância Magnética , Telencéfalo/química , Humanos , Lipídeos/química
20.
Gene ; 275(1): 39-46, 2001 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-11574150

RESUMO

The ubiquitin fusion-degradation gene (UFD1L) encodes the human homologue of the yeast ubiquitin fusion-degradation 1 protein, an essential component of the ubiquitin-dependent proteolytic turnover and mRNA processing. Although the UFD1L gene has been mapped in the region commonly deleted in patients with DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), correlation between its haploinsufficiency and the phenotype has not yet been established. The only functional data available about mammalian Ufd1p is the ability to form a complex with the rat Npl4 protein, a component of the nuclear pore complex. In this paper we report the cloning and molecular characterization of the human NPL4 gene. This gene encodes for a protein 96% homologous to the rat Npl4, and 44 and 34% homologous to the C. elegans and S. cerevisiae Npl4 gene products, respectively. Fluorescence in situ hybridization experiments on human metaphases localized the NPL4 gene on the most telomeric region of chromosome 17q. Northern blots analysis on foetal and adult human tissues revealed a major approximately 4.5 kb transcript most abundant in heart, brain, kidney and skeletal muscle. In order to test a potential relationship between nuclear transport defects and some aspect of the DGS/VCFS phenotype, we also exclude the presence of mutations in the NPL4 coding sequence in a subset of patients with DGS/VCFS and no detectable 22q11 deletion or mutations at the UFD1L locus.


Assuntos
Complexo de Proteínas Formadoras de Poros Nucleares , Proteínas Nucleares/genética , Proteínas/metabolismo , Proteínas de Saccharomyces cerevisiae , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Proteínas Adaptadoras de Transporte Vesicular , Sequência de Aminoácidos , Sequência de Bases , Northern Blotting , Proteínas de Ciclo Celular , Bandeamento Cromossômico , Mapeamento Cromossômico , Cromossomos Humanos Par 17/genética , Fissura Palatina/patologia , Clonagem Molecular , DNA Complementar/genética , Síndrome de DiGeorge/genética , Face/anormalidades , Feminino , Expressão Gênica , Regulação da Expressão Gênica no Desenvolvimento , Cardiopatias Congênitas/patologia , Humanos , Hibridização in Situ Fluorescente , Peptídeos e Proteínas de Sinalização Intracelular , Dados de Sequência Molecular , Mutação , Proteínas Nucleares/metabolismo , Proteínas de Transporte Nucleocitoplasmático , Polimorfismo de Nucleotídeo Único/genética , Ligação Proteica , Proteínas/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Saccharomyces cerevisiae/genética , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos , Síndrome , Distribuição Tecidual , Técnicas do Sistema de Duplo-Híbrido
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