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  1 / 99 MEDLINE  
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[PMID]:28457383
[Au] Autor:Poli L; Arroyo G; Garofalo M; Choppin de Janvry E; Intini G; Saracino A; Pretagostini R; Della Pietra F; Berloco PB
[Ad] Endereço:UOC Chirurgia Generale e Trapianti d'Organo, La Sapienza Università di Roma, Policlinico Umberto I, Rome, Italy. Electronic address: luca.poli@uniroma1.it.
[Ti] Título:Kidney Transplantation in Alström Syndrome: Case Report.
[So] Source:Transplant Proc;49(4):733-735, 2017 May.
[Is] ISSN:1873-2623
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. End-stage renal disease can occur as early as the late teens and is the leading cause of death. More than 900 people with Alström syndrome have been reported worldwide. We present a case of a 42-year-old man affected by this syndrome with end-stage renal disease, type 2 diabetes mellitus, and loss of visual function and hearing who received a kidney transplant from a cadaveric donor. Basiliximab and steroid were used as induction therapy. Tacrolimus, mycophenolate mofetil, and steroid were used as maintenance therapy. No complications were reported during the recovery. In selected patients affected by Alström syndrome, renal transplantation can be a successful treatment for chronic kidney disease.
[Mh] Termos MeSH primário: Síndrome de Alstrom/complicações
Falência Renal Crônica/etiologia
Falência Renal Crônica/cirurgia
Transplante de Rim
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171220
[Lr] Data última revisão:
171220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE


  2 / 99 MEDLINE  
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[PMID]:28724398
[Au] Autor:Yang L; Li Z; Mei M; Fan X; Zhan G; Wang H; Huang G; Wang M; Tian W; Zhou W
[Ad] Endereço:Division of Endocrinology, Genetics and Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
[Ti] Título:Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
[So] Source:BMC Med Genet;18(1):75, 2017 Jul 19.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure. CASE PRESENTATION: A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. The craniofacial dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor intrafamilial variability. Whole genome sequencing was performed to provide the full spectrum of the two siblings' genetic variations. In this study, we present the patients' clinical features and our interpretation of the whole genome sequencing data. After examining the data, we focus on two compound heterozygous mutations, (c.3902C > A, p.S1301X; c.6436C > T, p.R2146X) in ALMS1, which are shared by two siblings. CONCLUSION: We reported a novel ALMS1 mutation. Whole genome sequencing is a powerful tool to provide the full spectrum of genetic variations for heterogeneous disorders such as Alström syndrome.
[Mh] Termos MeSH primário: Síndrome de Alstrom/genética
Mutação
Proteínas/genética
[Mh] Termos MeSH secundário: Adolescente
Grupo com Ancestrais do Continente Asiático
Criança
Genoma Humano
Seres Humanos
Masculino
Análise de Sequência de DNA
Irmãos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ALMS1 protein, human); 0 (Proteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170721
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0418-3


  3 / 99 MEDLINE  
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[PMID]:28402684
[Au] Autor:Cruz-Aguilar M; Galaviz-Hernández C; Hiebert-Froese J; Sosa-Macías M; Zenteno JC
[Ad] Endereço:1 Genetics Department-Research Unit, Institute of Ophthalmology , "Conde de Valenciana," Mexico City, Mexico .
[Ti] Título:A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico.
[So] Source:Genet Test Mol Biomarkers;21(6):397-401, 2017 Jun.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIM: Alström syndrome (AS) is a rare autosomal recessive multisystem disease caused by biallelic mutations in ALMS1, a gene encoding a widely expressed centrosomal/basal body protein. Although more than 200 pathogenic mutations in ALMS1 have been identified to date in AS patients from various ethnic populations, there are very few reports of ALMS1 founder mutations in isolated populations. Our aim was to describe the molecular characterization of a cohort of AS patients from an extended inbred Mennonite kindred settled in Mexico. METHODS: Genetic study included polymerase chain reaction amplification and direct nucleotide sequencing of the entire ALMS1 gene in DNA from seven related AS patients. RESULTS: A homozygous single-nucleotide c.10480C>T substitution in exon 16, predicting a p.Q3494* nonsense mutation, was identified in all affected subjects. CONCLUSIONS: To our knowledge, this is the first demonstration of a high prevalence of AS in Mennonites, a population group maintaining high levels of consanguineous marriage in their communities. Our findings provide an example of genetic isolation and consanguinity causing a high prevalence of AS and offer the opportunity for early clinical interventions and for genetic counseling of at-risk couples in this community.
[Mh] Termos MeSH primário: Síndrome de Alstrom/genética
Proteínas/genética
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Códon sem Sentido
Estudos de Coortes
Grupos Étnicos/genética
Feminino
Efeito Fundador
Seres Humanos
Masculino
México
Linhagem
Proteínas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ALMS1 protein, human); 0 (Codon, Nonsense); 0 (Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170414
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0391


  4 / 99 MEDLINE  
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[PMID]:28272210
[Au] Autor:Bakar AA; Kamal NM; Alsaedi A; Turkistani R; Aldosari D
[Ad] Endereço:aPediatric Endocrinologist, Al-Hada Armed Forces Hospital, Taif, Saudi Arabia bPediatric Hepatologist Faculty of Medicine, Cairo University, Cairo, Egypt cPediatric Hepatologist Al-Hada Armed Forces Hospital dPediatric Resident, Al-Hada Armed Forces Hospital eMedical intern, Taif university, Taif, Saudi Arabia.
[Ti] Título:Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.
[So] Source:Medicine (Baltimore);96(10):e6192, 2017 Mar.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN: A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS: Alström syndrome. INTERVENTIONS: Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome. OUTCOMES: The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome. LESSONS: the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.
[Mh] Termos MeSH primário: Síndrome de Alstrom/genética
Proteínas/genética
[Mh] Termos MeSH secundário: Criança
Análise Mutacional de DNA
Diabetes Mellitus/etiologia
Feminino
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ALMS1 protein, human); 0 (Proteins)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170328
[Lr] Data última revisão:
170328
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170309
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000006192


  5 / 99 MEDLINE  
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[PMID]:28135309
[Au] Autor:Braune K; Volkmer I; Staege MS
[Ad] Endereço:Department of Pediatrics, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
[Ti] Título:Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.
[So] Source:PLoS One;12(1):e0170694, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms. ALMS1 mutations cause Alstrom syndrome, a rare genetic disorder. However, its function is not completely understood. DNA microarray analysis suggested that ALMS1 might be differentially expressed between Hodgkin lymphoma (HL) cells and normal tissues. By using reverse transcription-polymerase chain reaction (RT-PCR) we detected low but variable expression of ALMS1 in HL cell lines with highest expression in KM-H2 cells. Immunofluorescence indicated centrosomal accumulation of ALMS1 protein in HL cells. Knock-down of ALMS1 in KM-H2 cells had no impact on viability or cytotoxic drug sensitivity of these cells. Sequencing of RT-PCR products from HL cell lines identified three variable regions in ALMS1 transcripts that affect exons 2, 13, and 23. One of these variants was characterized by splicing out of exon 13. The other variants are characterized by two alternative 5 prime ends or alternative 3 prime ends. Structure prediction of the corresponding RNAs and proteins suggest that the different transcript variants might affect posttranscriptional regulation and ligand binding.
[Mh] Termos MeSH primário: Síndrome de Alstrom/genética
Doença de Hodgkin/genética
Proteínas/genética
[Mh] Termos MeSH secundário: Linhagem Celular Tumoral
Regulação Neoplásica da Expressão Gênica
Seres Humanos
Análise de Sequência com Séries de Oligonucleotídeos
Proteínas/metabolismo
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Processamento de Sinais Assistido por Computador
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ALMS1 protein, human); 0 (Proteins); 0 (RNA, Messenger)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170809
[Lr] Data última revisão:
170809
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170131
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0170694


  6 / 99 MEDLINE  
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[PMID]:28029746
[Au] Autor:Boerwinkle C; Marshall JD; Bryant J; Gahl WA; Olivier KN; Gunay-Aygun M
[Ad] Endereço:National Institute of Allergy and Infectious Diseases, Bethesda, Maryland.
[Ti] Título:Respiratory manifestations in 38 patients with Alström syndrome.
[So] Source:Pediatr Pulmonol;52(4):487-493, 2017 Apr.
[Is] ISSN:1099-0496
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease. METHODS: We describe the burden of oto-sino-pulmonary disease in 38 individuals with AS and examines the degree of clinical overlap between PCD and AS. Evaluation at the NIH Clinical Center included clinical examination, chest imaging, and clinical history surveys, as well as measurement of nasal nitric oxide (nNO) in nine patients. RESULTS: Recurrent otitis media was ubiquitous in the AS cohort (92%) with 50% requiring pressure equalization tube placement. A history of bronchitis/pneumonia and sinusitis was reported in 61% and 50% of individuals, respectively. PCD-characterizing symptoms (laterality defects, unexplained neonatal respiratory distress, year-round nasal congestion, and wet cough) were far less prevalent in the AS cohort compared to PCD, and the average nNO production in the AS cohort was 232 ± 57.1 nl/min compared to a cut-off of <77 nl/min for PCD. CONCLUSIONS: These data suggest that the oto-sino-respiratory complications in AS are prominent enough to warrant increased clinical attention, but significantly impaired respiratory cilia function as seen in PCD is unlikely in AS. (www.clinicaltrials.gov, trial NCT00068224) Pediatr Pulmonol. 2017;52:487-493. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Síndrome de Alstrom/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Síndrome de Alstrom/fisiopatologia
Criança
Pré-Escolar
Transtornos da Motilidade Ciliar/fisiopatologia
Tosse/fisiopatologia
Diagnóstico Diferencial
Feminino
Seres Humanos
Lactente
Masculino
National Institutes of Health (U.S.)
Prevalência
Índice de Gravidade de Doença
Estados Unidos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161229
[St] Status:MEDLINE
[do] DOI:10.1002/ppul.23607


  7 / 99 MEDLINE  
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[PMID]:28083605
[Au] Autor:Antosik K; Borowiec M
[Ad] Endereço:Department of Clinical Genetics, Medical University of Lodz, Pomorska 251, 92-213, Lodz, Poland.
[Ti] Título:Genetic Factors of Diabetes.
[So] Source:Arch Immunol Ther Exp (Warsz);64(Suppl 1):157-160, 2016 Dec.
[Is] ISSN:1661-4917
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Monogenic diabetes is a rare genetic type of diabetes caused by pancreatic ß-cells dysfunction. All subtypes of monogenic diabetes are recognized in the pediatric population. They include maturity onset diabetes of the young, permanent neonatal diabetes mellitus and rare syndromic forms of diabetes. An early and proper diagnosis allows to implement an optimal treatment, leads to improved metabolic control and amelioration of related disabilities as well as increases the quality of life of the patients.
[Mh] Termos MeSH primário: Diabetes Mellitus Tipo 2/genética
Diabetes Mellitus/genética
[Mh] Termos MeSH secundário: Adulto
Síndrome de Alstrom/diagnóstico
Síndrome de Alstrom/genética
Síndrome de Bardet-Biedl/diagnóstico
Síndrome de Bardet-Biedl/genética
Diabetes Mellitus/diagnóstico
Diabetes Mellitus Tipo 2/diagnóstico
Glucoquinase/antagonistas & inibidores
Seres Humanos
Células Secretoras de Insulina/citologia
Mutação
Polônia
Qualidade de Vida
Reino Unido
Síndrome de Wolfram/diagnóstico
Síndrome de Wolfram/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 2.7.1.2 (Glucokinase)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170413
[Lr] Data última revisão:
170413
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170114
[St] Status:MEDLINE
[do] DOI:10.1007/s00005-016-0432-8


  8 / 99 MEDLINE  
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[PMID]:27523285
[Au] Autor:Chakroun A; Ben Said M; Ennouri A; Achour I; Mnif M; Abid M; Ghorbel A; Marshall JD; Naggert JK; Masmoudi S
[Ad] Endereço:Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Tunisia; Department of Otorhinolaryngology, Habib Bourguiba Teaching Hospital, University of Sfax, Tunisia. Electronic address: amine.chakroun22@gmail.com.
[Ti] Título:Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.
[So] Source:Eur J Med Genet;59(9):444-51, 2016 Sep.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Alström syndrome is a clinically complex disorder characterized by progressive degeneration of sensory functions, resulting in visual and audiological impairment as well as metabolic disturbances. It is caused by recessively inherited mutations in the ALMS1 gene, which codes for a centrosomal/basal body protein. The purpose of this study was to investigate the genetic and clinical features of two Tunisian affected siblings with Alström syndrome. Detailed clinical examinations were performed including complete ophthalmic examination, serial audiograms and several biochemical and hormonal blood tests. For the molecular study, first genomic DNA was isolated using a standard protocol. Then, linkage analysis with microsatellite markers was performed and DNA array was used to detect known mutations. Subsequently, all ALMS1 exons were simultaneously sequenced for one affected patient with the TaGSCAN targeted sequencing panel. Finally, segregation of the causal variant was performed by Sanger sequencing. Both affected siblings had cone rod dystrophy with impaired visual acuity, sensorineural hearing loss and truncal obesity. One affected individual showed insulin resistance without diabetes mellitus. Other clinical features including cardiac and pulmonary dysfunction, hypothyroidism, hyperlipidemia, acanthosis nigricans, renal and hepatic dysfunction were absent. Genetic analysis showed the presence of a homozygous splice site mutation (c.10388-2A > G) in both affected siblings. Although Alström syndrome is relatively well characterized disease, this syndrome is probably misdiagnosed in Tunisia. Here, we describe the first report of Tunisian patients affected by this syndrome and carrying a homozygous ALMS1 mutation. The diagnosis was suspected after long-term clinical follow-up and confirmed by genetic testing.
[Mh] Termos MeSH primário: Síndrome de Alstrom/genética
Proteínas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Síndrome de Alstrom/diagnóstico
Síndrome de Alstrom/etiologia
Pré-Escolar
Éxons
Feminino
Seguimentos
Perda Auditiva Neurossensorial/genética
Homozigoto
Seres Humanos
Masculino
Repetições de Microssatélites
Mutação
Linhagem
Tunísia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ALMS1 protein, human); 0 (Proteins)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170902
[Lr] Data última revisão:
170902
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160816
[St] Status:MEDLINE


  9 / 99 MEDLINE  
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[PMID]:27178444
[Au] Autor:Gathercole LL; Hazlehurst JM; Armstrong MJ; Crowley R; Boocock S; O'Reilly MW; Round M; Brown R; Bolton S; Cramb R; Newsome PN; Semple RK; Paisey R; Tomlinson JW; Geberhiwot T
[Ad] Endereço:Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK.
[Ti] Título:Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome.
[So] Source:Liver Int;36(11):1704-1712, 2016 Nov.
[Is] ISSN:1478-3231
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND AIMS: Alström syndrome (AS) is a recessive monogenic syndrome characterized by obesity, extreme insulin resistance and multi-organ fibrosis. Despite phenotypically being high risk of non-alcoholic fatty liver disease (NAFLD), there is a lack of data on the extent of fibrosis in the liver and its close links to adipose in patients with AS. Our aim was to characterize the hepatic and adipose phenotype in patients with AS. METHODS: Observational cohort study with comprehensive assessment of metabolic liver phenotype including liver elastography (Fibroscan ), serum Enhanced Liver Fibrosis (ELF) Panel and liver histology. In addition, abdominal adipose histology and gene expression was assessed. We recruited 30 patients from the UK national AS clinic. A subset of six patients underwent adipose biopsies which was compared with control tissue from nine healthy participants. RESULTS: Patients were overweight/obese (BMI 29.3 (25.95-34.05) kg/m ). A total of 80% (24/30) were diabetic; 74% (20/27) had liver ultrasound scanning suggestive of NAFLD. As judged by the ELF panel, 96% (24/25) were categorized as having fibrosis and 10/21 (48%) had liver elastography consistent with advanced liver fibrosis/cirrhosis. In 7/8 selected cases, there was evidence of advanced NAFLD on liver histology. Adipose tissue histology showed marked fibrosis as well as disordered pro-inflammatory and fibrotic gene expression profiles. CONCLUSIONS: NAFLD and adipose dysfunction are common in patients with AS. The severity of liver disease in our cohort supports the need for screening of liver fibrosis in AS.
[Mh] Termos MeSH primário: Tecido Adiposo/patologia
Síndrome de Alstrom/complicações
Cirrose Hepática/epidemiologia
Hepatopatia Gordurosa não Alcoólica/epidemiologia
[Mh] Termos MeSH secundário: Adulto
Estudos de Coortes
Feminino
Fibrose
Expressão Gênica
Seres Humanos
Resistência à Insulina
Fígado/patologia
Cirrose Hepática/patologia
Masculino
Hepatopatia Gordurosa não Alcoólica/patologia
Obesidade/complicações
Reino Unido
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160515
[St] Status:MEDLINE
[do] DOI:10.1111/liv.13163


  10 / 99 MEDLINE  
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[PMID]:27142762
[Au] Autor:Hostelley TL; Lodh S; Zaghloul NA
[Ad] Endereço:Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, 660 W. Redwood Street, Howard Hall 487, Baltimore, MD, 21201, USA.
[Ti] Título:Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes.
[So] Source:BMC Genomics;17:318, 2016 05 03.
[Is] ISSN:1471-2164
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Bardet-Biedl Syndrome (BBS) and Alström Syndrome are two pleiotropic ciliopathies with significant phenotypic overlap between them across many tissues. Although BBS and Alström genes are necessary for the proper function of primary cilia, their role in defects across multiple organ systems is unclear. METHODS: To provide insight into the pathways underlying BBS and Alström phenotypes, we carried out whole organism transcriptome analysis by RNA sequencing in established zebrafish models of the syndromes. RESULTS: We analyzed all genes that were significantly differentially expressed and found enrichment of phenotypically significant pathways in both models. These included multiple pathways shared between the two disease models as well as those unique to each model. Notably, we identified significant downregulation of genes in pathways relevant to visual system deficits and obesity in both disorders, consistent with those shared phenotypes. In contrast, neuronal pathways were significantly downregulated only in the BBS model but not in the Alström model. Our observations also suggested an important role for G-protein couple receptor and calcium signaling defects in both models. DISCUSSION: Pathway network analyses of both models indicate that visual system defects may be driven by genetic mechanisms independent of other phenotypes whereas the majority of other phenotypes are a result of genetic players that contribute to multiple pathways simultaneously. Additionally, examination of genes differentially expressed in opposing directions between the two models suggest a deficit in pancreatic function in the Alström model, that is not present in the BBS model. CONCLUSIONS: These findings provide important novel insight into shared and divergent phenotypes between two similar but distinct genetic syndromes.
[Mh] Termos MeSH primário: Síndrome de Alstrom/genética
Síndrome de Bardet-Biedl/genética
Perfilação da Expressão Gênica
Fenótipo
Transcriptoma
Peixe-Zebra/genética
[Mh] Termos MeSH secundário: Síndrome de Alstrom/diagnóstico
Animais
Síndrome de Bardet-Biedl/diagnóstico
Biologia Computacional/métodos
Modelos Animais de Doenças
Regulação da Expressão Gênica
Ontologia Genética
Redes Reguladoras de Genes
Transdução de Sinal Luminoso
Vias Neurais
Vias Visuais
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171118
[Lr] Data última revisão:
171118
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160505
[St] Status:MEDLINE
[do] DOI:10.1186/s12864-016-2679-1



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