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Pesquisa : D09.400.430.875.750 [Categoria DeCS]
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[PMID]:28485217
[Au] Autor:Uehara E; Hokazono H; Hida M; Sasaki T; Yoshioka H; Matsuo N
[Ad] Endereço:a Sanwa Shurui Co., Ltd. , Usa , Japan.
[Ti] Título:GABA promotes elastin synthesis and elastin fiber formation in normal human dermal fibroblasts (HDFs).
[So] Source:Biosci Biotechnol Biochem;81(6):1198-1205, 2017 Jun.
[Is] ISSN:1347-6947
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The multiple physiological effects of γ-aminobutyric acid (GABA) as a functional food component have been recently reported. We previously reported that GABA upregulated the expression of type I collagen in human dermal fibroblasts (HDFs), and that oral administration of GABA significantly increased skin elasticity. However, details of the regulatory mechanism still remain unknown. In this study, we further examined the effects of GABA on elastin synthesis and elastin fiber formation in HDFs. Real-time PCR indicated that GABA significantly increased the expression of tropoelastin transcript in a dose-dependent manner. Additionally, the expression of fibrillin-1, fibrillin-2, and fibulin-5/DANCE, but not lysyl oxidase and latent transforming factor-ß-binding protein 4, were also significantly increased in HDFs. Finally, immunohistochemical analysis confirmed that treatment with GABA dramatically increased the formation of elastic fibers in HDFs. Taken together, our results showed that GABA improves skin elasticity in HDFs by upregulating elastin synthesis and elastin fiber formation.
[Mh] Termos MeSH primário: Tecido Elástico/efeitos dos fármacos
Elastina/genética
Fibroblastos/efeitos dos fármacos
Tropoelastina/agonistas
Ácido gama-Aminobutírico/farmacologia
[Mh] Termos MeSH secundário: Proliferação Celular/efeitos dos fármacos
Sobrevivência Celular/efeitos dos fármacos
Células Cultivadas
Derme/citologia
Derme/efeitos dos fármacos
Derme/metabolismo
Tecido Elástico/metabolismo
Elastina/agonistas
Elastina/metabolismo
Proteínas da Matriz Extracelular/agonistas
Proteínas da Matriz Extracelular/genética
Proteínas da Matriz Extracelular/metabolismo
Fibrilina-1/agonistas
Fibrilina-1/genética
Fibrilina-1/metabolismo
Fibrilina-2/agonistas
Fibrilina-2/genética
Fibrilina-2/metabolismo
Fibroblastos/citologia
Fibroblastos/metabolismo
Regulação da Expressão Gênica
Seres Humanos
Proteínas de Ligação a TGF-beta Latente/genética
Proteínas de Ligação a TGF-beta Latente/metabolismo
Proteína-Lisina 6-Oxidase/genética
Proteína-Lisina 6-Oxidase/metabolismo
Transdução de Sinais
Tropoelastina/genética
Tropoelastina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Extracellular Matrix Proteins); 0 (FBLN5 protein, human); 0 (FBN1 protein, human); 0 (Fibrillin-1); 0 (Fibrillin-2); 0 (LTBP1 protein, human); 0 (Latent TGF-beta Binding Proteins); 0 (Tropoelastin); 56-12-2 (gamma-Aminobutyric Acid); 9007-58-3 (Elastin); EC 1.4.3.13 (Protein-Lysine 6-Oxidase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170703
[Lr] Data última revisão:
170703
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170510
[St] Status:MEDLINE
[do] DOI:10.1080/09168451.2017.1290518


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[PMID]:28379158
[Au] Autor:You G; Zu B; Wang B; Wang Z; Xu Y; Fu Q
[Ad] Endereço:Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. youguoling@126.com.
[Ti] Título:Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.
[So] Source:Int J Mol Sci;18(4), 2017 Apr 05.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. The present study aimed to identify the genetic cause of a three-generation Chinese family with CCA. We successfully identified a novel missense mutation p.G1145D in the fibrillin-2 ( ) gene as the pathogenic mutation by whole exome sequencing (WES). The p.G1145D mutation occurs in the 12th calcium-binding epidermal growth factor-like (cbEGF) domain. The p.G1145D mutation caused a hydrophobic to hydrophilic substitution, altering the amino acid property from neutral to acidic. Three-dimensional structural analysis showed that this mutation could alter the conformation of the residue side chain, thereby producing steric clashes with spatially adjacent residues, disrupting the formation of H bonds and causing folding destabilization. Therefore, this amino acid appears to play an important role in the structure and function of . Our results may also provide new insights into the cause and diagnosis of CCA and may have implications for genetic counseling and clinical management.
[Mh] Termos MeSH primário: Aracnodactilia/genética
Grupo com Ancestrais do Continente Asiático/genética
Contratura/genética
Fibrilina-2/genética
Mutação de Sentido Incorreto
Análise de Sequência de DNA/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sítios de Ligação
Criança
China
Exoma
Feminino
Fibrilina-2/química
Seres Humanos
Masculino
Linhagem
Dobramento de Proteína
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FBN2 protein, human); 0 (Fibrillin-2)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170507
[Lr] Data última revisão:
170507
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE


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[PMID]:27751812
[Au] Autor:Lee SJ; Lee EH; Park SY; Kim JE
[Ad] Endereço:Department of Molecular Medicine, Cell and Matrix Research Institute, Kyungpook National University School of Medicine, Daegu 700-422, Republic of Korea; BK21 Plus KNU Biomedical Convergence Program, Department of Biomedical Science, Kyungpook National University, Daegu 700-422, Republic of Korea.
[Ti] Título:Induction of fibrillin-2 and periostin expression in Osterix-knockdown MC3T3-E1 cells.
[So] Source:Gene;596:123-129, 2017 Jan 05.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Osteoporosis is the most common age-related bone disease that is characterized by an imbalance between osteoblasts for bone formation and osteoclasts for bone resorption. Anti-catabolic drugs have been developed to inhibit osteoclast activity and to prevent bone loss in osteoporosis. However, because it is difficult to increase bone mass in osteoporotic bone, it would be beneficial to simultaneously enhance osteoblast function and thus form bone. Osterix (Osx) is an essential transcription factor for osteoblast differentiation. To date, many studies have focused on discovering Osx target genes and on increasing osteoblast differentiation. However, Osx targets and the mechanisms controlling osteoblast differentiation, are not well known. Here, we generated stable Osx-knockdown cell lines by employing shRNA in MC3T3-E1 osteoblastic cells. Stable Osx-knockdown osteoblasts exhibited a significant reduction in cell differentiation and nodule formation, which was similar to the reduced osteoblast activity observed in an Osx-deficient mouse model. Using an Affymetrix GeneChip microarray, we determined the differential gene expression profile in response to Osx knockdown, which provided insight into molecular mechanisms underlying osteoblast differentiation. Of 2743 genes with roles in cell differentiation, 15 were upregulated and 2 were downregulated in Osx-knockdown osteoblasts. In particular, the expression of fibrillin-2 and periostin was significantly increased in Osx-knockdown osteoblasts compared to that in control cells, as validated by RT-PCR and quantitative real-time PCR. Finally, this study showed differential gene expression profiles for Osx-mediated osteoblast differentiation, suggesting that fibrillin-2 and periostin will be target candidates of Osx in osteoblast differentiation.
[Mh] Termos MeSH primário: Moléculas de Adesão Celular/genética
Fibrilina-2/genética
Osteoblastos/citologia
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Animais
Moléculas de Adesão Celular/metabolismo
Diferenciação Celular/genética
Linhagem Celular
Fibrilina-2/metabolismo
Técnicas de Silenciamento de Genes
Camundongos
Análise de Sequência com Séries de Oligonucleotídeos
Osteoblastos/fisiologia
RNA Interferente Pequeno
Fator de Transcrição Sp7
Transcriptoma
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cell Adhesion Molecules); 0 (Fbn2 protein, mouse); 0 (Fibrillin-2); 0 (Postn protein, mouse); 0 (RNA, Small Interfering); 0 (Sp7 Transcription Factor); 0 (Sp7 protein, mouse); 0 (Transcription Factors)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161022
[St] Status:MEDLINE


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[PMID]:27634926
[Au] Autor:Rueda-Martínez C; Lamas O; Mataró MJ; Robledo-Carmona J; Sánchez-Espín G; Moreno-Santos I; Carrasco-Chinchilla F; Gallego P; Such-Martínez M; de Teresa E; Jiménez-Navarro M; Fernández B
[Ad] Endereço:UGC del Corazón, Instituto de Biomedicina de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria, Universidad de Málaga, RIC (Red de Investigación Cardiovascular), Málaga, Spain.
[Ti] Título:Fibrillin 2 is upregulated in the ascending aorta of patients with bicuspid aortic valve.
[So] Source:Eur J Cardiothorac Surg;51(1):104-111, 2017 Jan.
[Is] ISSN:1873-734X
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Bicuspid aortic valve (BAV) is the most prevalent congenital cardiac malformation, frequently associated with aortic dilatation (AD). The molecular mechanisms involved in AD and its aetiological link with BAV formation are poorly understood. Altered fibrillin-1 (FBN1) and metalloprotease-2, -9 (MMP2,9) protein activities have been suggested to be involved in BAV aortopathy. In addition, FBN2 participates in embryonic valve formation, but its possible involvement in BAV-associated AD has never been explored. In this report, we evaluate the expression levels of MMP2,9 and FBN1,2 in the ascending aorta of patients with normal or dilated aortas and with tricuspid aortic valve (TAV) or BAV, using appropriate tissue-specific reference genes. METHODS: Gene expression was quantified by real-time quantitative polymerase chain reaction in 52 patients, using one or three reference genes previously validated in the same patient population. RESULTS: FBN2 expression was significantly increased in the aortas of patients with BAV compared with individuals with TAV (0.178 ± 0.042 vs 0.096 ± 0.021, P = 0.015), whereas differences in FBN1 did not reach statistical significance (1.946 ± 0.228 vs 1.430 ± 0.114, P = 0.090). When four groups of samples were considered, FBN2 expression was significantly higher in patients with BAV and AD compared with patients with TAV and AD (0.164 ± 0.035 vs 0.074 ± 0.027, P = 0.040). No significant differences were found when FBN1/FBN2 ratio, and MMP2 and MMP9 expression levels were analysed. No linear relationship between aortic diameter and gene expression levels were found. CONCLUSIONS: BAV patients have an increased FBN (especially FBN2) gene expression level in the ascending aorta, irrespective of dilatation, whereas MMP expression does not change significantly. These results add a new piece of information to the pathophysiology of BAV disease and point to FBN2 as a new molecular player.
[Mh] Termos MeSH primário: Aorta Torácica/metabolismo
Valva Aórtica/anormalidades
Fibrilina-2/genética
Regulação da Expressão Gênica
Doenças das Valvas Cardíacas/genética
RNA/genética
[Mh] Termos MeSH secundário: Idoso
Valva Aórtica/metabolismo
Feminino
Fibrilina-2/biossíntese
Doenças das Valvas Cardíacas/metabolismo
Seres Humanos
Masculino
Meia-Idade
Reação em Cadeia da Polimerase em Tempo Real
Regulação para Cima
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fibrillin-2); 63231-63-0 (RNA)
[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:160917
[St] Status:MEDLINE
[do] DOI:10.1093/ejcts/ezw277


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[PMID]:27912749
[Au] Autor:Guo X; Song C; Shi Y; Li H; Meng W; Yuan Q; Xue J; Xie J; Liang Y; Yuan Y; Yu B; Wang H; Chen Y; Qi L; Li X
[Ad] Endereço:Shanxi Key Laboratory of Birth Defects and Cell Regeneration, Shanxi Population and Family Planning Research Institute, 11 Beiyuan Street, Taiyuan, Shanxi, 030006, People's Republic of China.
[Ti] Título:Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.
[So] Source:BMC Med Genet;17(1):91, 2016 Dec 03.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). CASE PRESENTATION: In this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family. The blood samples were collected from 22 living members of the family in the Yangquan County, Shanxi Province, China. Of those, eight individuals across 3 generations have CCA. Whole exome sequencing (WES) identified a missense mutation involving a T-to-G transition at position 3229 (c.3229 T > G) in exon 25 of the FBN2 gene, resulting in a Cys 1077 to Gly change (p.C1077G). This previously unreported mutation was found in all 8 affected individuals, but absent in 14 unaffected family members. SIFT/PolyPhen prediction and protein conservation analysis suggest that this novel mutation is pathogenic. Our study extended causative mutation spectrum of FBN2 gene in CCA patients. CONCLUSIONS: This study has identified a novel missense mutation in FBN2 gene (p.C1077G) resulting in CCA in a family of China.
[Mh] Termos MeSH primário: Aracnodactilia/genética
Grupo com Ancestrais do Continente Asiático/genética
Contratura/genética
Fibrilina-2/genética
[Mh] Termos MeSH secundário: Alelos
Sequência de Aminoácidos
Animais
Aracnodactilia/diagnóstico
Sequência de Bases
China
Contratura/diagnóstico
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Análise Mutacional de DNA
Genótipo
Seres Humanos
Masculino
Dados de Sequência Molecular
Mutação de Sentido Incorreto
Linhagem
Alinhamento de Sequência
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fibrillin-2); 9007-49-2 (DNA)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161204
[St] Status:MEDLINE


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[PMID]:27265864
[Au] Autor:Talbot JC; Nichols JT; Yan YL; Leonard IF; BreMiller RA; Amacher SL; Postlethwait JH; Kimmel CB
[Ad] Endereço:Institute of Neuroscience, 1254 University of Oregon, Eugene, OR 97403, USA; Departments of Molecular Genetics and Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA. Electronic address: talbot.39@osu.edu.
[Ti] Título:Pharyngeal morphogenesis requires fras1-itga8-dependent epithelial-mesenchymal interaction.
[So] Source:Dev Biol;416(1):136-148, 2016 08 01.
[Is] ISSN:1095-564X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Both Fras1 and Itga8 connect mesenchymal cells to epithelia by way of an extracellular 'Fraser protein complex' that functions in signaling and adhesion; these proteins are vital to the development of several vertebrate organs. We previously found that zebrafish fras1 mutants have craniofacial defects, specifically, shortened symplectic cartilages and cartilage fusions that spare joint elements. During a forward mutagenesis screen, we identified a new zebrafish mutation, b1161, that we show here disrupts itga8, as confirmed using CRISPR-generated itga8 alleles. fras1 and itga8 single mutants and double mutants have similar craniofacial phenotypes, a result expected if loss of either gene disrupts function of the Fraser protein complex. Unlike fras1 mutants or other Fraser-related mutants, itga8 mutants do not show blistered tail fins. Thus, the function of the Fraser complex differs in the craniofacial skeleton and the tail fin. Focusing on the face, we find that itga8 mutants consistently show defective outpocketing of a late-forming portion of the first pharyngeal pouch, and variably express skeletal defects, matching previously characterized fras1 mutant phenotypes. In itga8 and fras1 mutants, skeletal severity varies markedly between sides, indicating that both mutants have increased developmental instability. Whereas fras1 is expressed in epithelia, we show that itga8 is expressed complementarily in facial mesenchyme. Paired with the observed phenotypic similarity, this expression indicates that the genes function in epithelial-mesenchymal interactions. Similar interactions between Fras1 and Itga8 have previously been found in mouse kidney, where these genes both regulate Nephronectin (Npnt) protein abundance. We find that zebrafish facial tissues express both npnt and the Fraser gene fibrillin2b (fbn2b), but their transcript levels do not depend on fras1 or itga8 function. Using a revertible fras1 allele, we find that the critical window for fras1 function in the craniofacial skeleton is between 1.5 and 3 days post fertilization, which coincides with the onset of fras1-dependent and itga8-dependent morphogenesis. We propose a model wherein Fras1 and Itga8 interact during late pharyngeal pouch morphogenesis to sculpt pharyngeal arches through epithelial-mesenchymal interactions, thereby stabilizing the developing craniofacial skeleton.
[Mh] Termos MeSH primário: Região Branquial/embriologia
Epitélio/embriologia
Proteínas da Matriz Extracelular/fisiologia
Integrinas/fisiologia
Mesoderma/embriologia
Proteínas de Peixe-Zebra/fisiologia
[Mh] Termos MeSH secundário: Animais
Repetições Palindrômicas Curtas Agrupadas e Regularmente Espaçadas
Indução Embrionária
Epitélio/metabolismo
Proteínas da Matriz Extracelular/genética
Proteínas da Matriz Extracelular/metabolismo
Ossos Faciais/embriologia
Fibrilina-2/metabolismo
Integrinas/genética
Mesoderma/metabolismo
Morfogênese
Mutação
RNA Mensageiro
Peixe-Zebra
Proteínas de Peixe-Zebra/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Extracellular Matrix Proteins); 0 (Fibrillin-2); 0 (Fras1 protein, zebrafish); 0 (Integrins); 0 (RNA, Messenger); 0 (Zebrafish Proteins); 0 (itga8 protein, zebrafish); 0 (nephronectin)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160607
[St] Status:MEDLINE


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[PMID]:27222596
[Au] Autor:Bastian NA; Bayne RA; Hummitzsch K; Hatzirodos N; Bonner WM; Hartanti MD; Irving-Rodgers HF; Anderson RA; Rodgers RJ
[Ad] Endereço:Discipline of Obstetrics and GynaecologySchool of Medicine, Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
[Ti] Título:Regulation of fibrillins and modulators of TGFß in fetal bovine and human ovaries.
[So] Source:Reproduction;152(2):127-37, 2016 Aug.
[Is] ISSN:1741-7899
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Fibrillins 1-3 are stromal extracellular matrix proteins that play important roles in regulating TGFß activity, which stimulates fibroblasts to proliferate and synthesize collagen. In the developing ovary, the action of stroma is initially necessary for the formation of ovigerous cords and subsequently for the formation of follicles and the surface epithelium of the ovary. FBN3 is highly expressed only in early ovarian development and then it declines. In contrast, FBN1 and 2 are upregulated in later ovarian development. We examined the expression of FBN1-3 in bovine and human fetal ovaries. We used cell dispersion and monolayer culture, cell passaging and tissue culture. Cells were treated with growth factors, hormones or inhibitors to assess the regulation of expression of FBN1-3 When bovine fetal ovarian tissue was cultured, FBN3 expression declined significantly. Treatment with TGFß-1 increased FBN1 and FBN2 expression in bovine fibroblasts, but did not affect FBN3 expression. Additionally, in cultures of human fetal ovarian fibroblasts (9-17weeks gestational age), the expression of FBN1 and FBN2 increased with passage, whereas FBN3 dramatically decreased. Treatment with activin A and a TGFß family signaling inhibitor, SB431542, differentially regulated the expression of a range of modulators of TGFß signaling and of other growth factors in cultured human fetal ovarian fibroblasts suggesting that TGFß signaling is differentially involved in the regulation of ovarian fibroblasts. Additionally, since the changes in FBN1-3 expression that occur in vitro are those that occur with increasing gestational age in vivo, we suggest that the fetal ovarian fibroblasts mature in vitro.
[Mh] Termos MeSH primário: Ativinas/metabolismo
Feto/metabolismo
Fibrilinas/metabolismo
Regulação da Expressão Gênica
Ovário/metabolismo
Fator de Crescimento Transformador beta/metabolismo
[Mh] Termos MeSH secundário: Animais
Bovinos
Células Cultivadas
Feminino
Feto/citologia
Fibrilina-1/metabolismo
Fibrilina-2/metabolismo
Fibroblastos/citologia
Fibroblastos/metabolismo
Seres Humanos
Ovário/citologia
Gravidez
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FBN1 protein, human); 0 (FBN2 protein, human); 0 (FBN3 protein, human); 0 (Fibrillin-1); 0 (Fibrillin-2); 0 (Fibrillins); 0 (Transforming Growth Factor beta); 0 (activin A); 104625-48-1 (Activins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160526
[St] Status:MEDLINE
[do] DOI:10.1530/REP-16-0172


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[PMID]:27196565
[Au] Autor:Deng H; Lu Q; Xu H; Deng X; Yuan L; Yang Z; Guo Y; Lin Q; Xiao J; Guan L; Song Z
[Ad] Endereço:Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, 410013, China.
[Ti] Título:Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
[So] Source:PLoS One;11(5):e0155908, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of the helix of the ear. The aim of this study is to identify the genetic cause of a 4-generation Chinese family of Tujia ethnicity with congenital contractural arachnodactyly by exome sequencing. The clinical features of patients in this family are consistent with CCA. A novel missense mutation, c.3769T>C (p.C1257R), in the fibrillin 2 gene (FBN2) was identified responsible for the genetic cause of our family with CCA. The p.C1257R mutation occurs in the 19th calcium-binding epidermal growth factor-like (cbEGF) domain. The amino acid residue cysteine in this domain is conserved among different species. Our findings suggest that exome sequencing is a powerful tool to discover mutation(s) in CCA. Our results may also provide new insights into the cause and diagnosis of CCA, and may have implications for genetic counseling and clinical management.
[Mh] Termos MeSH primário: Aracnodactilia/genética
Contratura/genética
Fibrilina-2/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Adulto
China
Exoma
Feminino
Seres Humanos
Masculino
Meia-Idade
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FBN2 protein, human); 0 (Fibrillin-2)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160520
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0155908


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[PMID]:26114882
[Au] Autor:Sengle G; Carlberg V; Tufa SF; Charbonneau NL; Smaldone S; Carlson EJ; Ramirez F; Keene DR; Sakai LY
[Ad] Endereço:Department of Biochemistry & Molecular Biology, Oregon Health & Science University, Portland, Oregon, United States of America; Shriners Hospital for Children, Portland, Oregon, United States of America.
[Ti] Título:Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.
[So] Source:PLoS Genet;11(6):e1005340, 2015 Jun.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause Congenital Contractural Arachnodactyly. Both are autosomal dominant disorders, and both disorders affect musculoskeletal tissues. Here we show that Fbn2 null mice (on a 129/Sv background) are born with reduced muscle mass, abnormal muscle histology, and signs of activated BMP signaling in skeletal muscle. A delay in Myosin Heavy Chain 8, a perinatal myosin, was found in Fbn2 null forelimb muscle tissue, consistent with the notion that muscle defects underlie forelimb contractures in these mice. In addition, white fat accumulated in the forelimbs during the early postnatal period. Adult Fbn2 null mice are already known to demonstrate persistent muscle weakness. Here we measured elevated creatine kinase levels in adult Fbn2 null mice, indicating ongoing cycles of muscle injury. On a C57Bl/6 background, Fbn2 null mice showed severe defects in musculature, leading to neonatal death from respiratory failure. These new findings demonstrate that loss of fibrillin-2 results in phenotypes similar to those found in congenital muscular dystrophies and that FBN2 should be considered as a candidate gene for recessive congenital muscular dystrophy. Both in vivo and in vitro evidence associated muscle abnormalities and accumulation of white fat in Fbn2 null mice with abnormally activated BMP signaling. Genetic rescue of reduced muscle mass and accumulation of white fat in Fbn2 null mice was accomplished by deleting a single allele of Bmp7. In contrast to other reports that activated BMP signaling leads to muscle hypertrophy, our findings demonstrate the exquisite sensitivity of BMP signaling to the fibrillin-2 extracellular environment during early postnatal muscle development. New evidence presented here suggests that fibrillin-2 can sequester BMP complexes in a latent state.
[Mh] Termos MeSH primário: Proteínas Morfogenéticas Ósseas/metabolismo
Proteínas dos Microfilamentos/genética
Doenças Musculares/genética
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Proteína Morfogenética Óssea 7/genética
Proteína Morfogenética Óssea 7/metabolismo
Proteínas Morfogenéticas Ósseas/genética
Creatina Quinase/sangue
Feminino
Fibrilina-1
Fibrilina-2
Fibrilinas
Regulação da Expressão Gênica
Deformidades Congênitas dos Membros/genética
Masculino
Camundongos Endogâmicos C57BL
Camundongos Mutantes
Proteínas dos Microfilamentos/metabolismo
Músculo Esquelético/anormalidades
Músculo Esquelético/patologia
Doenças Musculares/fisiopatologia
Distrofias Musculares/genética
Técnicas de Cultura de Órgãos
Transdução de Sinais/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Bone Morphogenetic Protein 7); 0 (Bone Morphogenetic Proteins); 0 (Fbn1 protein, mouse); 0 (Fbn2 protein, mouse); 0 (Fibrillin-1); 0 (Fibrillin-2); 0 (Fibrillins); 0 (Microfilament Proteins); 0 (bmp7 protein, mouse); EC 2.7.3.2 (Creatine Kinase)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150627
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1005340


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[PMID]:25986263
[Au] Autor:Yagi H; Hatano M; Takeda N; Harada S; Suzuki Y; Taniguchi Y; Shintani Y; Morita H; Kanamori N; Aoyama T; Watanabe M; Manabe I; Akazawa H; Kinugawa K; Komuro I
[Ad] Endereço:Department of Cardiovascular Medicine, The University of Tokyo Hospital, Japan.
[Ti] Título:Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy.
[So] Source:Intern Med;54(10):1237-41, 2015.
[Is] ISSN:1349-7235
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults. We herein report a sporadic case of CCA in a 20-year-old woman who developed decompensated dilated cardiomyopathy. The patient did not have any mutations in the FBN1 or FBN2 genes, which are most commonly associated with Marfan syndrome and CCA, respectively. Although whether these two diseases are caused by a mutation(s) in the same gene or two different genes remains unknown, this case provides new clinical insight into the cardiovascular management of CCA.
[Mh] Termos MeSH primário: Aracnodactilia/complicações
Aracnodactilia/genética
Cardiomiopatia Dilatada/complicações
Contratura/complicações
Contratura/genética
Proteínas dos Microfilamentos/genética
[Mh] Termos MeSH secundário: Feminino
Fibrilina-1
Fibrilina-2
Fibrilinas
Seres Humanos
Síndrome de Marfan/genética
Mutação
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (FBN1 protein, human); 0 (FBN2 protein, human); 0 (Fibrillin-1); 0 (Fibrillin-2); 0 (Fibrillins); 0 (Microfilament Proteins)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150520
[St] Status:MEDLINE
[do] DOI:10.2169/internalmedicine.54.4280



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