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1.
Artículo en Inglés | MEDLINE | ID: mdl-39169557

RESUMEN

BACKGROUND: People with intellectual disability (ID) demonstrate persistent challenges around developing life skills. Immersive virtual reality (IVR) is gaining interest as a tool for training life skills as it enables individuals to engage in hands-on learning in a safe, controlled and repeatable environment. However, there are concerns about the potential drawbacks of IVR, such as cybersickness and practical challenges with using the equipment, which may hinder its widespread adoption in educational settings. The current study aimed to compare the effectiveness of training in IVR and a non-immersive virtual environment for improving real-world skills in people with ID. METHODS: In the present study, 36 adults (16 female, 20 male) with ID were recruited from a disability organisation. Participants completed a real-world assessment of waste management skills before and after training in either the IVR or non-immersive group. RESULTS: Consistent with our hypotheses, the IVR group scored significantly higher in the real-world assessment after virtual training (d = 1), and at the 1-week follow-up (d = 1.12), compared with the non-immersive group. Further analyses showed that the IVR group, but not the non-immersive group, significantly improved performance in the real-world assessment across timepoints. CONCLUSIONS: The findings indicate that IVR was more effective for improving and retaining real-world waste management skills. This study supports IVR as a viable tool for professionals and caregivers to develop skills for independent living among people with ID.

2.
Aliment Pharmacol Ther ; 23(8): 1235-40, 2006 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-16611285

RESUMEN

BACKGROUND: Cure rates for eradication of Helicobacter pylori appear to be decreasing, thus more effective therapies must be identified. AIM: To evaluate the efficacy of bovine lactoferrin in the treatment of H. pylori infection. METHODS: In a multicentered prospective study, 402 (mean age 52.4, range 19-84 years) H. pylori-positive patients were assigned to one of three regimens: group A - esomeprazole 20 mg b.d., clarithromycin 500 mg b.d. and tinidazole 500 mg b.d. for 7 days; group B - lactoferrin 200 mg b.d. for 7 days followed by the same schedule of group A; group C - esomeprazole 20 mg b.d., clarithromycin 500 mg b.d. and tinidazole 500 mg b.d. plus lactoferrin 200 mg b.d. for 7 days. RESULTS: Of the 402 patients, 389 completed the study. Six patients were discontinued due to side effects, one patient in group B died and six patients were lost to follow up. The eradication rate (intention-to-treat analysis) was 77% in group A (105/136), 73% in group B (97/132) and 90% in group C (120/134) (chi(2)-test P < 0.01). The incidence of side effects was 9.5% in group A, 9% in group B and 8.2% in group C (chi(2)-test P = 0.1). CONCLUSION: This study demonstrates that bovine lactoferrin is an effective adjuvant to 7-day triple therapy for eradication of H. pylori infection.


Asunto(s)
Antibacterianos/uso terapéutico , Infecciones por Helicobacter/tratamiento farmacológico , Helicobacter pylori , Lactoferrina/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Animales , Bovinos , Distribución de Chi-Cuadrado , Claritromicina/uso terapéutico , Esquema de Medicación , Quimioterapia Combinada , Esomeprazol/uso terapéutico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tinidazol/uso terapéutico , Resultado del Tratamiento
3.
Dig Liver Dis ; 38(1): 51-4, 2006 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-16321581

RESUMEN

Aortoesophageal fistula, secondary to thoracic aortic aneurysm, is an uncommon cause of gastrointestinal bleeding that is uniformly fatal without surgical intervention. Typical symptoms are midthoracic pain and/or dysphagia followed by a usually short, albeit unpredictable, symptom-free interval and by a 'herald' haemorrhage, which is observed in 80% of patients before fatal exsanguinations. Dysphagia is present in 45% of patients, sometimes for several weeks, before the first bleeding occurs. However, dysphagia aortica is rarely considered in the differential diagnosis of dysphagia and lack of awareness, as well as symptom's underevaluation, both contribute to a significant diagnostic and therapeutic delay. We present a case of a 77-year-old woman who died for a bleeding AEF consequent to a thoracic aortic aneurysm and whose main symptom during the past 2 months was dysphagia, which was not taken seriously into consideration by her general practitioner. This case report emphasises that primary care physicians should be alerted to evaluate carefully the alarming symptoms like dysphagia -- especially in elderly patients -- before life threatening complications occur, as they are the ones who could suspect early the diagnosis and make a proper referral.


Asunto(s)
Enfermedades de la Aorta/complicaciones , Trastornos de Deglución/etiología , Fístula Esofágica/complicaciones , Fístula Vascular/complicaciones , Anciano , Aneurisma de la Aorta Torácica/complicaciones , Trastornos de Deglución/diagnóstico , Resultado Fatal , Femenino , Hemorragia/etiología , Humanos
4.
Dig Liver Dis ; 37(7): 501-8, 2005 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-15975537

RESUMEN

BACKGROUND: Several tests have been proposed for evaluating dyspeptic symptoms and their relationship to the underlying gastric disease. Serum pepsinogens and gastrin-17 are known to be useful biomarkers for the detection of gastric pathologies. AIM: To evaluate the capability of screening dyspeptic patients in the primary care by analyses of serum pepsinogens I (sPGI) and II (sPGII), gastrin-17 (sG-17) and the IgG anti-Helicobacter pylori antibodies (IgG-Hp). PATIENTS AND METHODS: Three hundred and sixty-two consecutive patients with dyspeptic symptoms (208 females, mean age 50.6 +/- 16 years, range 18-88 years) referred by general practitioners for upper gastrointestinal endoscopy were enrolled. A blood sample was taken from each subject for IgG-Hp, sPGI, sPGII and sG-17 analyses. RESULTS: Two hundred and eighty-seven patients had a complete screening; of these, 132 resulted positive for Hp infection. Patients with atrophic chronic gastritis showed significantly lower serum pepsinogen I levels and sPGI/sPGII ratio than patients with non-atrophic chronic gastritis. Moreover, by calculating the values of sPGI by sG-17 and sG-17 by sPGII/sPGI, subjects with atrophic chronic gastritis could be distinguished from those with non-atrophic chronic gastritis and from those with normal mucosa, respectively. sG-17 levels were found to be a useful biomarker for the detection of antral atrophic gastritis, while the combination of sPGI, the sPGI/sPGII ratio and sG-17 was found effective in identifying corpus atrophy. CONCLUSION: A panel composed of PGI, PGII, G-17 and IgG-Hp could be used as a first approach in the 'test and scope' and/or 'test and treat' strategy in the primary care management of dyspeptic patients.


Asunto(s)
Anticuerpos Antibacterianos/análisis , Dispepsia/sangre , Gastrinas/sangre , Gastritis/diagnóstico , Helicobacter pylori/inmunología , Pepsinógeno A/sangre , Pepsinógeno C/sangre , Adulto , Anciano , Anciano de 80 o más Años , Enfermedad Crónica , Dispepsia/etiología , Femenino , Gastritis/complicaciones , Gastritis/microbiología , Gastroscopía , Humanos , Inmunoglobulina G/inmunología , Masculino , Tamizaje Masivo , Persona de Mediana Edad , Atención Primaria de Salud
5.
Gene ; 72(1-2): 241-5, 1988 Dec 10.
Artículo en Inglés | MEDLINE | ID: mdl-2468563

RESUMEN

Dot-blot and Northern-blot experiments, using strand-specific RNA probes, show that part of the bacteriophage T4 DNA that codes for six of the base plate structural genes (gp 51, 27, 28, 29, 48 and 54), is transcribed in vivo from both DNA strands. The r DNA strand transcripts contain sequences which are translated into structural proteins. Antisense l strand RNA is about 100 fold less abundant than RNA molecules transcribed from the r DNA strand.


Asunto(s)
Escherichia coli/genética , Genes Virales , Genes , Fagos T/genética , Transcripción Genética , Northern Blotting , ARN/genética , ARN sin Sentido , Mapeo Restrictivo , Proteínas Virales/genética
6.
FEBS Lett ; 437(3): 313-8, 1998 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-9824315

RESUMEN

The gene encoding glucose 6-phosphate dehydrogenase (G6PD), which plays a pivotal role in cell defense against oxidative stress, is ubiquitously expressed at widely different levels in various tissues; moreover, G6PD expression is regulated by a number of stimuli. In this study we have analyzed the molecular anatomy of the G6PD core promoter. Our results indicate that the G6PD promoter is more complex than previously assumed; G6PD expression is under the control of several elements that are all required for correct promoter functioning and, furthermore, a still unidentified mammalian specific factor is needed.


Asunto(s)
Glucosafosfato Deshidrogenasa/genética , Regiones Promotoras Genéticas/genética , Animales , Secuencia de Bases , Sitios de Unión/genética , Línea Celular , Proteínas de Unión al ADN/metabolismo , Proteínas de Unión al ADN/fisiología , Drosophila/genética , Regulación de la Expresión Génica , Humanos , Datos de Secuencia Molecular , Mutagénesis Sitio-Dirigida , Conformación de Ácido Nucleico , Factor de Transcripción Sp1/metabolismo , Factor de Transcripción Sp1/fisiología , Factor de Transcripción Sp3 , Factores de Transcripción/metabolismo , Factores de Transcripción/fisiología , Activación Transcripcional , Dedos de Zinc
7.
Dig Liver Dis ; 35(10): 706-10, 2003 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-14620619

RESUMEN

BACKGROUND: One-week triple therapy is the most frequently recommended treatment for Helicobacter pylori infection. Eradication rate is satisfactory, nevertheless is advisable to look for more effective therapies. AIM: To test the efficacy of a standard triple therapy plus bovine lactoferrin in the eradication of H. pylori infection. PATIENTS AND METHODS: One hundred and fifty consecutive H. pylori positive patients, suffering from dyspeptic symptoms were recruited in a 7-day triple therapy open randomised single centre study with rabeprazole, clarithromycin, tinidazole, bovine lactoferrin (group A) or rabeprazole, clarithromycin, tinidazole (group B), or a 10-day therapy with rabeprazole, clarithromycin, tinidazole (group C). H. pylori status was assessed 8 weeks after the end of the treatment by means of a 13C-urea breath test or a H. pylori stool antigen-test. RESULTS: Eradication rates (intention to treat/per protocol) were: group A (92.2/95.9%), group B (71.2/72.5%) and group C (70.2/75%). The efficacy of triple therapy added with lactoferrin was significantly higher than other two regimens (p=0.01, intention to treat analysis; p=0.005, per protocol analysis). CONCLUSION: These results suggest that lactoferrin tested in the present study was effective in curing H. pylori and could be a new agent to assist the antimicrobials in the eradication of the bacterium.


Asunto(s)
Infecciones por Helicobacter/tratamiento farmacológico , Helicobacter pylori , Lactoferrina/uso terapéutico , 2-Piridinilmetilsulfinilbencimidazoles , Animales , Antibacterianos/uso terapéutico , Antiulcerosos/uso terapéutico , Antitricomonas/uso terapéutico , Bencimidazoles/uso terapéutico , Pruebas Respiratorias , Bovinos , Claritromicina/uso terapéutico , Esquema de Medicación , Quimioterapia Combinada , Heces/microbiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Omeprazol/análogos & derivados , ATPasas de Translocación de Protón/antagonistas & inhibidores , Rabeprazol , Factores de Tiempo , Tinidazol/uso terapéutico
8.
Minerva Gastroenterol Dietol ; 45(4): 287-96, 1999 Dec.
Artículo en Italiano | MEDLINE | ID: mdl-16498341

RESUMEN

Fifty-nine patients with ulcerative colitis localised in the rectum, sigmoid and colon entered the trial. Thirty were treated with BDP and twenty-nine with 5-Aminosalicylic (enemas and suppositories) for 8 weeks, in a doubleblind, controlled study. Clinical, endoscopic and histological assessment was carried out before and after 4 and 8 weeks of treatment. It is concluded that BDP is a new important treatment for mild and moderate activity ulcerative colitis.

9.
Chir Ital ; 53(2): 195-202, 2001.
Artículo en Italiano | MEDLINE | ID: mdl-11396067

RESUMEN

Ninety-two patients with severe, proton-pump-inhibitor-dependent gastro-oesophageal reflux disease were submitted to surgery and operated on by the same surgeon (SC) over the past 7 years (mean age: 42; range: 23-74 years). Partial fundoplication was performed in 14 patients with impaired oesophageal motility, while 78 total fundoplications were done in the others, 51 without, and 27 with division of the short gastric vessels. The mean follow-up was 29.5 months (range: 1-85 months). Conversion to open surgery was necessary in 6 patients (all in the first 40 cases). Perforation of the gastric fundus and early migration of the stomach into the mediastinum were the two most important complications observed. The mortality was nil. 39% of the patients complained of postoperative dysphagia but only five required endoscopic (4) or surgical (1) treatment. The percentages of dysphagia after partial fundoplication and total fundoplication with or without division of the short gastric vessels were 28%, 37% and 47%, respectively. In 83.7% the patients were satisfied with the clinical results and in 84% of cases medical treatment was avoided after surgery. On the basis of these data, laparoscopic surgery appears to be a good option for gastro-oeophageal reflux disease in selected patients with a poor response to, or dependent on medical treatment. However, the results of surgery may be subject to the limitations of a learning curve, as in all complex laparoscopic procedures.


Asunto(s)
Fundoplicación/métodos , Reflujo Gastroesofágico/cirugía , Laparoscopía , Adulto , Anciano , Femenino , Estudios de Seguimiento , Fundoplicación/efectos adversos , Humanos , Laparoscopía/efectos adversos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología
10.
Acta Otorhinolaryngol Ital ; 33(6): 414-7, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24376298

RESUMEN

Hearing loss in children causes a deficit in early perceptive and language skills. The objective of this study was to evaluate early receptive and expressive language outcomes in children with hearing loss, identified by hearing screening, compared to the time of diagnosis. We studied 18 severely hearing impaired children who were divided into two groups according to the time of diagnosis. Evaluation of communicative language ability was carried out at 18 month of age using the "MacArthur Child Development Inventory" questionnaire, while evaluation of acoustic-perceptual abilities was assessed with the Genovese-Arslan protocol every three months following diagnosis. The linguistic communicative and acoustic-perceptual outcomes of hearing impaired children diagnosed before 6 months of age followed those expected for normally hearing children, with a trend of temporal progression of skills that were faster than those of children diagnosed after 6 months of age.


Asunto(s)
Trastornos de la Percepción Auditiva/diagnóstico , Trastornos de la Percepción Auditiva/etiología , Pérdida Auditiva Sensorineural/complicaciones , Pérdida Auditiva Sensorineural/diagnóstico , Trastornos del Desarrollo del Lenguaje/diagnóstico , Trastornos del Desarrollo del Lenguaje/etiología , Tamizaje Neonatal , Preescolar , Humanos , Recién Nacido , Italia , Estudios Longitudinales , Estudios Prospectivos
11.
Acta Otorhinolaryngol Ital ; 33(5): 320-3, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24227897

RESUMEN

Otosclerosis, the single most common cause of hearing impairment in white adults, is characterised by bone dystrophy localized to the otic capsule and isolated endochondral bone sclerosis with alternating phases of bone resorption and formation. Conductive hearing loss develops when otosclerotic foci invade the stapedio-vestibular joint (oval window) and interfere with free motion of the stapes, but affected subjects frequently develop profound sensorineural hearing loss. The aetiology of otosclerosis is unknown. In the last years, several association studies have been performed and have suggested that single nucleotide polymorphisms in some genes may be implicated in development of otosclerosis. The strongest association has been demonstrated for the reelin gene, located on chromosome 7q22.1, which encodes an extracellular matrix protein. The involvement of reelin in the pathogenesis of otosclerosis is controversial; it was identified in European and North African populations, but was excluded in an Indian population. To analyze the role of reelin in otosclerosis, it has been studied in a case-control analysis for the polymorphism rs39335 in a southern Italy population. In this population, the pathogenic link between the rs39335 variant and otosclerosis was excluded.


Asunto(s)
Moléculas de Adhesión Celular Neuronal/genética , Proteínas de la Matriz Extracelular/genética , Proteínas del Tejido Nervioso/genética , Otosclerosis/genética , Polimorfismo de Nucleótido Simple , Serina Endopeptidasas/genética , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Proteína Reelina
14.
Eur J Clin Invest ; 37(12): 964-70, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18036030

RESUMEN

BACKGROUND: In inflammatory bowel diseases, changes in autonomic enteric regulation may also affect neural cardiovascular control. However, while cardiac autonomic modulation has been shown to be impaired in active ulcerative colitis, the occurrence of cardiovascular autonomic alterations, also in the quiescent phase of inflammatory bowel diseases, is still a matter of debate. The aim of our study was thus to explore the features of cardiovascular autonomic regulation in ulcerative colitis and Crohn's disease during their remission phase. MATERIALS AND METHODS: Autonomic cardiovascular control was evaluated by time- and frequency-domain indexes of spontaneous heart rate and blood pressure variability and by assessing the baroreflex heart rate control (sequence technique) in 26 patients with ulcerative colitis, in 26 patients with Crohn's disease and in 23 healthy controls. RESULTS: The groups were matched for age, gender and body mass index. They had similar blood pressure mean levels and variability. By contrast, mean heart rate, its overall variability (standard deviation), and baroreflex sensitivity were lower in ulcerative colitis patients than in controls. Moreover, all indexes related to cardiac vagal control were significantly lower in ulcerative colitis patients with respect not only to controls but also to Crohn's disease patients. CONCLUSIONS: Cardiac vagal control is impaired in quiescent ulcerative colitis only, and not in Crohn's disease, while in both bowel diseases vascular control appears preserved. Since cardiovagal modulation seems related to anti-inflammatory mechanisms, the reduced parasympathetic cardiac regulation in apparently quiescent ulcerative colitis suggests that such systemic derangement is accompanied by local subclinical inflammations, even in the absence of clinically active inflammatory processes.


Asunto(s)
Sistema Nervioso Autónomo/fisiopatología , Colitis Ulcerosa/fisiopatología , Enfermedad de Crohn/fisiopatología , Adulto , Presión Sanguínea/fisiología , Estudios de Casos y Controles , Femenino , Frecuencia Cardíaca/fisiología , Humanos , Masculino , Persona de Mediana Edad
15.
Cell Biol Int Rep ; 15(8): 645-59, 1991 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-1835904

RESUMEN

The present research deals with the localization of the interdigitating cells (IDCs) in normal and in Down's human thymuses. Eight thymic biopsy samples of normal children from 16 months to 10 1/2 years and six samples of Down's children from 2 months to 6 1/2 years were stained by the indirect immuno-peroxidase method using an anti-S-100 protein serum. IDCs are localized in the medullary zones, always numerous in all the Down's thymuses and in an age-related decreasing number in normal thymuses. The interrelationships between the physiological and pathological role of IDCs in inducing self-tolerance and T-cell activation and the numerical distribution in normal and in Down's human thymuses are discussed.


Asunto(s)
Síndrome de Down/metabolismo , Proteínas S100/inmunología , Timo/inmunología , Linfocitos B/inmunología , Linfocitos B/metabolismo , Linfocitos B/patología , Biopsia , Niño , Preescolar , Síndrome de Down/patología , Femenino , Humanos , Técnicas para Inmunoenzimas , Lactante , Activación de Linfocitos , Masculino , Proteínas S100/análisis , Linfocitos T/inmunología , Linfocitos T/metabolismo , Linfocitos T/patología , Timo/química , Timo/patología
16.
Ultrastruct Pathol ; 15(3): 257-65, 1991.
Artículo en Inglés | MEDLINE | ID: mdl-1871900

RESUMEN

A metastasizing carcinoid of the gastric stump found 25 years after Billroth II gastric resection for duodenal ulcer is described. Electron microscopy and optical endocrine cell staining proved the tumor to be composed of enterochromaffinlike (ECL) cells. This unusual combination further shows that, at variance with most of these tumors, ECL cell carcinoids may develop also in a condition excluding a trophic effect of gastrin. This case emphasizes the malignant behavior of gastrin-independent ECL cell tumors.


Asunto(s)
Tumor Carcinoide/ultraestructura , Células Enterocromafines/ultraestructura , Neoplasias Gástricas/ultraestructura , Gastrectomía , Humanos , Técnicas para Inmunoenzimas , Masculino , Microscopía Electrónica , Persona de Mediana Edad , Péptidos/análisis
17.
Acta Biomed Ateneo Parmense ; 63(3-4): 243-9, 1992.
Artículo en Italiano | MEDLINE | ID: mdl-1285200

RESUMEN

Endoscopic positioning of a large biliary endoprosthesis has become a well codified procedure for palliative treatment of primary or metastatic malignant bile duct obstruction. Authors' experience, regarding 47 patients treated by this technique from February 1992, is reported. Furthermore, either absolute or site-related per cent rate of successful positioning of endoprosthesis, efficacy of procedure, early and late complications and mean survival are reported. Results confirm the effectiveness of the procedure in reducing jaundice resulting from malignant bile duct obstruction and low complication rate; early detection and treatment of prosthetic obstruction with subsequent cholangitis, that is the most important factor responsible for death, depend upon close collaboration between physician and endoscopist.


Asunto(s)
Neoplasias de los Conductos Biliares/complicaciones , Colestasis/cirugía , Endoscopía/métodos , Cuidados Paliativos , Anciano , Neoplasias de los Conductos Biliares/cirugía , Conductos Biliares/cirugía , Colangitis/prevención & control , Colestasis/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/prevención & control , Stents
18.
Acta Biomed Ateneo Parmense ; 72(1-2): 45-54, 2001.
Artículo en Italiano | MEDLINE | ID: mdl-11554123

RESUMEN

A multidimensional appraisal of the patient suffering from chronic idiopatic constipation is used in this study. 16 consecutive patients affected by chronic idiopatic constipation defined by Rome criteria were enrolled. The following assessments were performed: radiological study of colorectal transit time using radiopaque markers, anorectal manometry, proctography, psychiatric appraisal, with the somministration of The Minnesota Multiphasic Personality Inventory 2, Hamilton Rating Scales for Depression, Hamilton Rating Scales for Anxiety, Toronto Alexithymia Scales, quality of life appraisal, by means of Short Form 36. The present study must be considered a pilot-study, lead on a limited champion of 16 cases; the reported data express therefore tendencies. Chronic idiopatic constipation appears to be a disturbance with a strong impact on the patient's quality of life. The study moreover confirms the hypothesis of a multifactorial genesis for chronic idiopatic constipation, in which psychopathological aspects (anxiety, depression and alessitimia in particular) and personality traits play a fundamental role, as much as the physiopathological alterations. Colorectal transit time study and anorectal manometry confirm to be valid instruments for the evaluation of physiopathological characteristics, useful for a classification of patients, particularly with respect to the presence of a normal or slowed colorectal transit and to the relief of pelvic floor dysfunctions. The differences between subgroups based on physiopathological characteristics, with respect to quality of the life and personality traits, expressed as tendency, need a confirm form studies lead on larger champions.


Asunto(s)
Estreñimiento/diagnóstico , Estreñimiento/psicología , Trastorno Depresivo Mayor/diagnóstico , Trastornos de la Personalidad/diagnóstico , Calidad de Vida , Adolescente , Adulto , Anciano , Enfermedad Crónica , Trastorno Depresivo Mayor/complicaciones , Femenino , Humanos , MMPI , Masculino , Persona de Mediana Edad , Trastornos de la Personalidad/complicaciones
19.
Cytogenet Cell Genet ; 85(3-4): 291-6, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10449920

RESUMEN

ZNF41 belongs to a cluster of human zinc finger genes residing within a gene-rich region at Xp11.23. ZNF41 encodes a KRAB/FPB (Krüppel-associated/finger preceding box) domain, a potent transcription repression motif present in hundreds of vertebrate zinc finger protein genes, composed of two protein modules, A and B. Three introns, placed at identical positions in paralogous genes, interrupt four exons encoding the ZNF41 N-terminal amino acids, the KRAB/FPB-A and KRAB/FPB-B modules, and the remaining coding region adjoined to the C-terminal zinc finger domain. Since the KRAB/FPB-A and KRAB/FPB-B modules are encoded by dedicated exons in ZNF41 and paralogous genes, exon skipping may lead to differential usage of these modules in alternative gene products. RT-PCR analysis of ZNF41 mRNAs showed that, while skipping of the KRAB/FPB-A and/or KRAB/FPB-B exons was not detected, the use of alternative donor/acceptor sites upstream of the KRAB/FPB-A exon generates multiple ZNF41 transcripts potentially encoding polypeptides differing in the N-terminal region and expressed in different tissues. The expression pattern in cell hybrids containing either active or inactive X chromosomes indicates that ZNF41, which resides within a region of the X chromosome that includes genes that are both subject to and escape X-inactivation, is susceptible to X-chromosome inactivation.


Asunto(s)
Empalme Alternativo/genética , Proteínas de Unión al ADN/genética , Compensación de Dosificación (Genética) , Dedos de Zinc/genética , Secuencia de Aminoácidos , Secuencia de Bases , Expresión Génica , Humanos , Células Híbridas , Factores de Transcripción de Tipo Kruppel , Datos de Secuencia Molecular , Estructura Terciaria de Proteína , ARN Mensajero/biosíntesis , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Homología de Secuencia de Aminoácido , Cromosoma X/genética
20.
Genomics ; 9(4): 728-36, 1991 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-2037297

RESUMEN

We have isolated a novel human zinc finger gene, ZNF41, from a human X-chromosome-specific library. Nucleotide sequence analysis reveals that ZNF41 potentially encodes a polypeptide featuring an array of 18 contiguous zinc fingers of the C2H2 type. Multiple polyadenylated transcripts homologous to ZNF41 are present at different levels in several distinct cell types. Southern analyses of somatic cell hybrids containing either intact or rearranged X chromosomes confirm the genomic origin of the isolated gene and establish that it is localized between Xcen and Xp22.1.


Asunto(s)
Cromosoma X , Dedos de Zinc/genética , Secuencia de Aminoácidos , Secuencia de Bases , Sitios de Unión , Southern Blotting , Mapeo Cromosómico , Clonación Molecular , ADN , Femenino , Expresión Génica , Biblioteca Genómica , Humanos , Células Híbridas , Masculino , Datos de Secuencia Molecular , Secuencias Repetitivas de Ácidos Nucleicos , Mapeo Restrictivo , Alineación de Secuencia , Transcripción Genética , Células Tumorales Cultivadas
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