Base de dados : MEDLINE
Pesquisa : C05.116.099.708.327 [Categoria DeCS]
Referências encontradas : 424 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 43 ir para página                         

  1 / 424 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
[PMID]:29229899
[Au] Autor:Ibarra-Ramirez M; Campos-Acevedo LD; Lugo-Trampe J; Martínez-Garza LE; Martinez-Glez V; Valencia-Benitez M; Lapunzina P; Ruiz-Peréz V
[Ad] Endereço:Department of Genetics, Faculty of Medicine, Autonomous University of Nuevo León, Monterrey, Nuevo León, Mexico.
[Ti] Título:Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
[So] Source:Am J Case Rep;18:1325-1329, 2017 Dec 12.
[Is] ISSN:1941-5923
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35.  CASE REPORT Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. Family 1 includes four patients: three females of 15, 18, and 23 years of age and a 7-year old male. Family 2 has only one affected newborn male. All patients exhibited multiple features including hypodontia, dysplastic teeth, extra frenula, mild short stature, distal limb shortening, postaxial polydactyly of hands and feet, nail dystrophy, and knee joint abnormalities. Only two patients had an atrial septal defect. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon.  CONCLUSIONS The mutation c.1678G>T has been previously reported in another Mexican patient and it appears to be a recurrent mutation in Mexico which could represent a founder mutation. The large number of patients in this case allows the clinical variability and spectrum of manifestations present in individuals with Ellis-van Creveld syndrome even if they carry the same homozygous mutation in a same family.
[Mh] Termos MeSH primário: Códon sem Sentido
Síndrome de Ellis-Van Creveld/genética
Fenótipo
Proteínas/genética
[Mh] Termos MeSH secundário: Adolescente
Criança
Éxons
Feminino
Homozigoto
Seres Humanos
Recém-Nascido
Masculino
México
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (EVC protein, human); 0 (Proteins)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180109
[Lr] Data última revisão:
180109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171213
[St] Status:MEDLINE


  2 / 424 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29173298
[Au] Autor:Chowdhury D; Williams KB; Chidekel A; Pizarro C; Preedy C; Young M; Hendrickson C; Robinson DL; Kreiger PA; Puffenberger EG; Strauss KA
[Ad] Endereço:Cardiology Care for Children, Lancaster, PA.
[Ti] Título:Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
[So] Source:J Pediatr;191:145-151, 2017 Dec.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate clinical outcome of patients with Ellis-van Creveld syndrome (EVC) in whom congenital heart disease (CHD) repair was delayed intentionally to reduce the risk of postoperative respiratory morbidity and mortality. STUDY DESIGN: This retrospective review of 51 EVC c.1886+5G>T homozygotes born between 2005 and 2014 focused on 18 subjects who underwent surgery for CHD, subdivided into early (mean, 1.3 months) vs delayed (mean, 50.1 months) repair. RESULTS: Growth trajectories differed between control subjects and patients with EVC, and CHD was associated with slower weight gain. Relative to controls, infants with EVC had a 40%-75% higher respiratory rates (independent of CHD) accompanied by signs of compensated respiratory acidosis. Blood gases and respiratory rates approached normal values by age 4 years. Hemodynamically significant CHD was present in 23 children, 18 (78%) of whom underwent surgical repair. Surgery was performed at 1.3 ± 1.3 months for children born between 2005 and 2009 (n = 9) and 50.1 ± 40.2 months (P = .009) for children born between 2010 and 2014 (n = 9). The latter had shorter postoperative mechanical ventilation (1.1 ± 2.4 days vs 49.6 ± 57.1 days; P = .075), shorter intensive care duration of stay (16 ± 24 days vs 48.6 ± 44.2 days; P = .155), and no postoperative tracheostomies (vs 60%; P = .028) or deaths (vs 44%; P = .082). CONCLUSION: Among children with EVC and possibly other short-rib thoracic dysplasias, delayed surgical repair of CHD reduces postoperative morbidity and improves survival. Respiratory rate serves as a simple indicator for optimal timing of surgical repair.
[Mh] Termos MeSH primário: Síndrome de Ellis-Van Creveld
Cardiopatias Congênitas/cirurgia
[Mh] Termos MeSH secundário: Pré-Escolar
Síndrome de Ellis-Van Creveld/mortalidade
Síndrome de Ellis-Van Creveld/fisiopatologia
Feminino
Seguimentos
Cardiopatias Congênitas/mortalidade
Cardiopatias Congênitas/fisiopatologia
Seres Humanos
Lactente
Recém-Nascido
Masculino
Complicações Pós-Operatórias/epidemiologia
Complicações Pós-Operatórias/prevenção & controle
Taxa Respiratória
Estudos Retrospectivos
Toracotomia
Fatores de Tempo
Resultado do Tratamento
Ganho de Peso
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171211
[Lr] Data última revisão:
171211
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE


  3 / 424 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28081373
[Au] Autor:Zhang H; Takeda H; Tsuji T; Kamiya N; Kunieda T; Mochida Y; Mishina Y
[Ad] Endereço:1 Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI, USA.
[Ti] Título:Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.
[So] Source:J Dent Res;96(4):421-429, 2017 Apr.
[Is] ISSN:1544-0591
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ellis-van Creveld (EvC) syndrome is an autosomal-recessive skeletal dysplasia, characterized by short stature and postaxial polydactyly. A series of dental abnormalities, including hypomorphic enamel formation, has been reported in patients with EvC. Despite previous studies that attempted to uncover the mechanism leading to abnormal tooth development, little is known regarding how hypomorphic enamel is formed in patients with EvC. In the current study, using Evc2/ Limbin mutant mice we recently generated, we analyzed enamel formation in the mouse incisor. Consistent with symptoms in human patients, we observed that Evc2 mutant mice had smaller incisors with enamel hypoplasia. Histologic observations coupled with ameloblast marker analyses suggested that Evc2 mutant preameloblasts were capable of differentiating to secretory ameloblasts; this process, however, was apparently delayed, due to delayed odontoblast differentiation, mediated by a limited number of dental mesenchymal stem cells in Evc2 mutant mice. This concept was further supported by the observation that dental mesenchymal-specific deletion of Evc2 phenocopied the tooth abnormalities in Evc2 mutants. Overall, our findings suggest that mutations in Evc2 affect dental mesenchymal stem cell homeostasis, which further leads to hypomorphic enamel formation.
[Mh] Termos MeSH primário: Hipoplasia do Esmalte Dentário/genética
Incisivo/anormalidades
Proteínas de Membrana/genética
Anormalidades Dentárias/genética
[Mh] Termos MeSH secundário: Animais
Diferenciação Celular
Modelos Animais de Doenças
Síndrome de Ellis-Van Creveld/genética
Camundongos
Camundongos Knockout
Mutação
Reação em Cadeia da Polimerase em Tempo Real
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EVC2 protein, mouse); 0 (Membrane Proteins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170113
[St] Status:MEDLINE
[do] DOI:10.1177/0022034516683674


  4 / 424 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28079660
[Au] Autor:Kotoda M; Ishiyama T; Okuyama K; Matsukawa T
[Ad] Endereço:From the *Department of Anesthesiology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan; †Surgical Center, University of Yamanashi Hospital, University of Yamanashi, Yamanashi, Japan; and ‡Department of Anesthesia, Shizuoka Children's Hospital, Shizuoka, Japan.
[Ti] Título:Anesthetic Management of a Child With Jeune Syndrome for Tracheotomy: A Case Report.
[So] Source:A A Case Rep;8(5):119-121, 2017 Mar 01.
[Is] ISSN:2325-7237
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Jeune syndrome is a rare autosomal-recessive skeletal disorder. Anesthetic management of these patients is often difficult because of thoracic and lung hypoplasia. A 5-month-old boy with Jeune syndrome was scheduled to undergo a tracheotomy. Despite 5-minute preoxygenation with continuous positive airway pressure, the patient's oxygen saturation rapidly dropped during the induction of anesthesia. The continuous positive airway pressure should have been titrated to effective tidal volume during preoxygenation to recruit the patient's functional residual capacity and to prevent desaturation. During tracheotomy, volume-controlled ventilation with a high respiratory rate and sufficient inspiratory time effectively improved the patient's respiratory status.
[Mh] Termos MeSH primário: Anestesia Geral/métodos
Síndrome de Ellis-Van Creveld/terapia
Oxigenoterapia/métodos
Traqueotomia/métodos
[Mh] Termos MeSH secundário: Pressão Positiva Contínua nas Vias Aéreas/métodos
Síndrome de Ellis-Van Creveld/diagnóstico por imagem
Seres Humanos
Lactente
Masculino
Radiografia Torácica
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170309
[Lr] Data última revisão:
170309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170113
[St] Status:MEDLINE
[do] DOI:10.1213/XAA.0000000000000444


  5 / 424 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27889373
[Au] Autor:Page J; Bodart E; Hennecker JL
[Ad] Endereço:Service de pédiatrie, clinique Notre-Dame de Grâce, 212, chaussée de Nivelles, 6041 Gosselies, Belgique.
[Ti] Título:[Infant respiratory distress revealing Jeune syndrome].
[Ti] Título:Détresse respiratoire du nourrisson révélant un syndrome de Jeune..
[So] Source:Arch Pediatr;24(1):41-44, 2017 Jan.
[Is] ISSN:1769-664X
[Cp] País de publicação:France
[La] Idioma:fre
[Ab] Resumo:Jeune syndrome (asphyxiating thoracic dystrophy) is a rare autosomal recessive osteochondrodysplasia with a variable degree of severity, clinically characterized by respiratory distress with a narrow chest and limb shortness. The reported incidence is one to five in 500,000 live births. Most patients develop severe respiratory failure during the first 2 years of life, leading to death in 60-80 % of cases. Survivors may suffer from renal, hepatic, or pancreatic complications. Expanding thoracic surgery can be used for severe cases. We describe the case of an 18-month-old boy who developed mild respiratory distress. The patient showed typical radiological features of Jeune syndrome: narrow thorax with short ribs and trident appearance of the pelvis. This case underscores the value of the right interpretation of the chest radiograph of the infant with a respiratory distress syndrome.
[Mh] Termos MeSH primário: Síndrome de Ellis-Van Creveld/diagnóstico
Insuficiência Respiratória/etiologia
[Mh] Termos MeSH secundário: Síndrome de Ellis-Van Creveld/complicações
Seres Humanos
Lactente
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161128
[St] Status:MEDLINE


  6 / 424 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28027321
[Au] Autor:Zhang H; Kamiya N; Tsuji T; Takeda H; Scott G; Rajderkar S; Ray MK; Mochida Y; Allen B; Lefebvre V; Hung IH; Ornitz DM; Kunieda T; Mishina Y
[Ad] Endereço:Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Michigan, United States of America.
[Ti] Título:Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.
[So] Source:PLoS Genet;12(12):e1006510, 2016 Dec.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. In this report, we comprehensively analyze limb skeletogenesis in Evc2 mutant mice and in cell and tissue cultures derived from these mice. Both in vivo and in vitro data demonstrate elevated Fibroblast Growth Factor (FGF) signaling in Evc2 mutant growth plates, in addition to compromised but not abrogated Hedgehog-PTHrP feedback loop. Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice. Taken together, our data uncover a novel pathogenic mechanism to understand limb dwarfism in patients with Ellis-van Creveld syndrome.
[Mh] Termos MeSH primário: Nanismo/genética
Síndrome de Ellis-Van Creveld/genética
Fatores de Crescimento de Fibroblastos/genética
Proteínas de Membrana/genética
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Nanismo/patologia
Síndrome de Ellis-Van Creveld/patologia
Fatores de Crescimento de Fibroblastos/biossíntese
Lâmina de Crescimento/crescimento & desenvolvimento
Lâmina de Crescimento/patologia
Seres Humanos
Proteínas de Membrana/biossíntese
Camundongos
Proteínas Mutantes/biossíntese
Proteínas Mutantes/genética
Polidactilia/genética
Polidactilia/patologia
Transdução de Sinais
Anormalidades Dentárias/genética
Anormalidades Dentárias/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EVC2 protein, mouse); 0 (Evc protein, mouse); 0 (Membrane Proteins); 0 (Mutant Proteins); 0 (fibroblast growth factor 18); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161228
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006510


  7 / 424 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:27940767
[Au] Autor:Cosi G; Genoni G; Monzani A; Pilan B; Lavrano M; Ferrero F
[Ad] Endereço:Neonatal and Pediatric ICU, Maggiore della Carità Hospital, Novara, Italy; and.
[Ti] Título:Effective Neurally Adjusted Ventilatory Assist (NAVA) Ventilation in a Child With Jeune Syndrome.
[So] Source:Pediatrics;138(5), 2016 Nov.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Jeune syndrome (asphyxiating thoracic dystrophy) is a rare skeletal dysplasia mainly characterized by dystrophy of the thoracic cage. Neurally adjusted ventilatory assist (NAVA) is a respiratory support in which pressure assistance is provided in proportion to and synchronous with the electrical activity of the diaphragm. We present the case of a 4-month-old infant with asphyxiating thoracic dystrophy and respiratory failure successfully ventilated with NAVA. In this case, NAVA improved patient-ventilator synchrony, reducing endotracheal secretion and gastric overdistention. The reduction of breathing effort and the improvement in enteral feeding tolerance and weight gain made the patient eligible for thoracic surgical correction.
[Mh] Termos MeSH primário: Síndrome de Ellis-Van Creveld/terapia
Suporte Ventilatório Interativo
[Mh] Termos MeSH secundário: Nutrição Enteral
Feminino
Seres Humanos
Lactente
Insuficiência Respiratória/etiologia
Insuficiência Respiratória/terapia
Ganho de Peso
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170622
[Lr] Data última revisão:
170622
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


  8 / 424 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27665332
[Au] Autor:Güvenç O; Sündüs Uygun S; Çimen D; Aslan E; Annagür A
[Ad] Endereço:Department of Pediatric Cardiology, Selçuk Univercity Faculty of Medicine, Konya, Turkey. osmanguvenc1977@gmail.com.
[Ti] Título:Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case.
[So] Source:Turk Kardiyol Dern Ars;44(6):503-6, 2016 Sep.
[Is] ISSN:1308-4488
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The case of a patient referred with a history of severe asphyxiating birth, who had been diagnosed with Jeune syndrome and later hypertrophic cardiomyopathy (HCM) upon echocardiographic examination is described in the present report. This rare disease is discussed with respect to the current literature, as the present is the first reported case to be accompanied by HCM.
[Mh] Termos MeSH primário: Cardiomiopatia Hipertrófica
Síndrome de Ellis-Van Creveld
Doenças do Recém-Nascido
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Recém-Nascido
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[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:160926
[St] Status:MEDLINE
[do] DOI:10.5543/tkda.2015.29677


  9 / 424 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:27453244
[Au] Autor:Hao XY; Fan CN; He YH; Liu JL; Ge SP
[Ad] Endereço:Department of Cardiograph, Capital Medical University Affiliated Beijing Anzhen Hospital, Beijing 100029, China.
[Ti] Título:Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing.
[So] Source:Chin Med J (Engl);129(15):1882-3, 2016 Aug 05.
[Is] ISSN:0366-6999
[Cp] País de publicação:China
[La] Idioma:eng
[Mh] Termos MeSH primário: Análise Mutacional de DNA/métodos
Síndrome de Ellis-Van Creveld/diagnóstico
Diagnóstico Pré-Natal/métodos
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
Gravidez
Proteínas/genética
Ultrassonografia Pré-Natal
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (EVC protein, human); 0 (EVC2 protein, human); 0 (Proteins)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170227
[Lr] Data última revisão:
170227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160726
[St] Status:MEDLINE
[do] DOI:10.4103/0366-6999.186634


  10 / 424 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27164562
[Au] Autor:Badri MK; Zhang H; Ohyama Y; Venkitapathi S; Alamoudi A; Kamiya N; Takeda H; Ray M; Scott G; Tsuji T; Kunieda T; Mishina Y; Mochida Y
[Ad] Endereço:Department of Molecular and Cell Biology, Henry M. Goldman School of Dental Medicine, Boston University, 700 Albany Street, Boston, MA 02118, USA; Department of Pediatric Dentistry and Orthodontics, College of Dentistry, Taibah University, Al-Madinah Al-Munawarah, Saudi Arabia.
[Ti] Título:Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse.
[So] Source:Arch Oral Biol;68:142-52, 2016 Aug.
[Is] ISSN:1879-1506
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Our objectives were to determine the expression of EVC2 in craniofacial tissues and investigate the effect of Evc2 deficiency on craniofacial bones using Evc2 knockout (KO) mouse model. DESIGN: Evc2 KO mice were generated by introducing a premature stop codon followed by the Internal Ribosomal Entry Site fused to ß-galactosidase (LacZ). Samples from wild-type (WT), heterozygous (Het) and homozygous Evc2 KO mice were prepared. LacZ staining and immunohistochemistry (IHC) with anti-ß-galactosidase, anti-EVC2 and anti-SOX9 antibodies were performed. The craniofacial bones were stained with alcian blue and alizarin red. RESULTS: The LacZ activity in KO was mainly observed in the anterior parts of viscerocranium. The Evc2-expressing cells were identified in many cartilageous regions by IHC with anti-ß-galactosidase antibody in KO and Het embryos. The endogenous EVC2 protein was observed in these areas in WT embryos. Double labeling with anti-SOX9 antibody showed that these cells were mainly chondrocytes. At adult stages, the expression of EVC2 was found in chondrocytes of nasal bones and spheno-occipital synchondrosis, and osteocytes and endothelial-like cells of the premaxilla and mandible. The skeletal double staining demonstrated that craniofacial bones, where the expression of EVC2 was observed, in KO had the morphological defects as compared to WT. CONCLUSION: To our knowledge, our study was the first to identify the types of Evc2-expressing cells in craniofacial tissues. Consistent with the expression pattern, abnormal craniofacial bone morphology was found in the Evc2 KO mice, suggesting that EVC2 may be important during craniofacial growth and development.
[Mh] Termos MeSH primário: Anormalidades Craniofaciais/metabolismo
Proteínas de Membrana/biossíntese
[Mh] Termos MeSH secundário: Animais
Osso e Ossos/metabolismo
Osso e Ossos/patologia
Condrócitos/metabolismo
Anormalidades Craniofaciais/genética
Anormalidades Craniofaciais/patologia
Modelos Animais de Doenças
Síndrome de Ellis-Van Creveld/genética
Síndrome de Ellis-Van Creveld/metabolismo
Síndrome de Ellis-Van Creveld/patologia
Imuno-Histoquímica
Proteínas de Membrana/genética
Proteínas de Membrana/imunologia
Proteínas de Membrana/metabolismo
Camundongos
Camundongos Knockout
Mutação
Receptor Patched-1
beta-Galactosidase
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EVC2 protein, mouse); 0 (Membrane Proteins); 0 (Patched-1 Receptor); 0 (Ptch1 protein, mouse); EC 3.2.1.23 (beta-Galactosidase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:160511
[St] Status:MEDLINE



página 1 de 43 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde