Base de dados : MEDLINE
Pesquisa : D12.776.260.645.937 [Categoria DeCS]
Referências encontradas : 193 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 20 ir para página                         

  1 / 193 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29198719
[Au] Autor:Shaffer JR; Li J; Lee MK; Roosenboom J; Orlova E; Adhikari K; Gallo C; Poletti G; Schuler-Faccini L; Bortolini MC; Canizales-Quinteros S; Rothhammer F; Bedoya G; González-José R; Pfeffer PE; Wollenschlaeger CA; Hecht JT; Wehby GL; Moreno LM; Ding A; Jin L; Yang Y; Carlson JC; Leslie EJ; Feingold E; Marazita ML; Hinds DA; Cox TC; Wang S; Ruiz-Linares A; Weinberg SM; 23andMe Research Team
[Ad] Endereço:Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
[Ti] Título:Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment.
[So] Source:Am J Hum Genet;101(6):913-924, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The genetic basis of earlobe attachment has been a matter of debate since the early 20 century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10 ) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development.
[Mh] Termos MeSH primário: Orelha/anatomia & histologia
Herança Multifatorial/genética
Locos de Características Quantitativas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Animais
Região Branquial/anatomia & histologia
Criança
Pré-Escolar
Proteínas de Ligação a DNA/genética
Receptor Edar/genética
Estudo de Associação Genômica Ampla
Genótipo
Seres Humanos
Camundongos
Meia-Idade
Proteínas Mitocondriais/genética
Fator de Transcrição PAX9/genética
Proteínas/genética
Receptores Acoplados a Proteínas-G/genética
Proteínas Ribossômicas/genética
Fatores de Transcrição/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (EDAR protein, human); 0 (Edar Receptor); 0 (GPR126 protein, human); 0 (MRPS22 protein, human); 0 (Mitochondrial Proteins); 0 (PAX9 Transcription Factor); 0 (PAX9 protein, human); 0 (Proteins); 0 (Receptors, G-Protein-Coupled); 0 (Ribosomal Proteins); 0 (SKT protein, human); 0 (SP5 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE


  2 / 193 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28847717
[Au] Autor:Sarkar T; Bansal R; Das P
[Ad] Endereço:Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, India.
[Ti] Título:A novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia.
[So] Source:Gene;635:69-76, 2017 Nov 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Several studies on experimental animals indicate that the process of organogenesis crucially depends upon the spatiotemporal dose of certain critical bio-molecules. Tooth development is also not an exception. While most of the knowledge regarding the molecular mechanism of tooth development comes from the studies on mouse model, pathogenic variations identified in human tooth agenesis also provide valuable information on mammalian tooth development. Until now five major candidate genes have been identified for tooth agenesis in human. Among them, PAX9 plays the crucial role in tooth development and in non-syndromic congenital tooth agenesis. In this study, microsatellite and SNP based genotyping identifies a disease specific haplotype block, which includes PAX9 gene, segregates with autosomal dominant tooth agenesis phenotype. Direct sequencing of PAX9 identifies a novel heterozygous G to A transition at the third base (c.3G>A) of initiation codon leading to ATG to ATA shift in all affected individuals which is absent in all unaffected relatives and 200 control chromosomes. Further, in vitro functional analysis creating PAX9 minigene construct did apparently show no effect on the splice-site migration. It is therefore proposed that haploinsufficiency of PAX9 is the causal factor for tooth agenesis in this family.
[Mh] Termos MeSH primário: Anodontia/genética
Predisposição Genética para Doença
Fator de Transcrição PAX9/genética
Dente/crescimento & desenvolvimento
[Mh] Termos MeSH secundário: Animais
Anodontia/fisiopatologia
Genótipo
Haplótipos
Seres Humanos
Camundongos
Mutação
Organogênese/genética
Polimorfismo de Nucleotídeo Único
Dente/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX9 Transcription Factor); 0 (PAX9 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170830
[St] Status:MEDLINE


  3 / 193 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28813171
[Au] Autor:Jia S; Zhou J; Wee Y; Mikkola ML; Schneider P; D'Souza RN
[Ad] Endereço:1 School of Dentistry, School of Medicine, University of Utah, Salt Lake City, UT, USA.
[Ti] Título:Anti-EDAR Agonist Antibody Therapy Resolves Palate Defects in Pax9 Mice.
[So] Source:J Dent Res;96(11):1282-1289, 2017 Oct.
[Is] ISSN:1544-0591
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:To date, surgical interventions are the only means by which craniofacial anomalies can be corrected so that function, esthetics, and the sense of well-being are restored in affected individuals. Unfortunately, for patients with cleft palate-one of the most common of congenital birth defects-treatment following surgery is prolonged over a lifetime and often involves multidisciplinary regimens. Hence, there is a need to understand the molecular pathways that control palatogenesis and to translate such information for the development of noninvasive therapies that can either prevent or correct cleft palates in humans. Here, we use the well-characterized model of the Pax9 mouse, which displays a consistent phenotype of a secondary cleft palate, to test a novel therapeutic. Specifically, we demonstrate that the controlled intravenous delivery of a novel mouse monoclonal antibody replacement therapy, which acts as an agonist for the ectodysplasin (Eda) pathway, can resolve cleft palate defects in Pax9 embryos in utero. Such pharmacological interventions did not reverse the arrest in tooth, thymus, and parathyroid gland development, suggesting that the relationship of Pax9 to the Eda/Edar pathway is both unique and essential for palatogenesis. Expression analyses and unbiased gene expression profiling studies offer a molecular explanation for the resolution of palatal defects, showing that Eda and Edar-related genes are expressed in normal palatal tissues and that the Eda/Edar signaling pathway is downstream of Pax9 in palatogenesis. Taken together, our data uncover a unique relationship between Pax9 and the Eda/Edar signaling pathway that can be further exploited for the development of noninvasive, safe, and effective therapies for the treatment of cleft palate conditions and other single-gene disorders affecting the craniofacial complex.
[Mh] Termos MeSH primário: Anticorpos Monoclonais/farmacologia
Fissura Palatina/tratamento farmacológico
Fissura Palatina/embriologia
Receptor Edar/agonistas
Fator de Transcrição PAX9/metabolismo
[Mh] Termos MeSH secundário: Animais
Regulação da Expressão Gênica no Desenvolvimento
Hibridização In Situ
Camundongos
Camundongos Endogâmicos
Morfogênese
Fenótipo
Reação em Cadeia da Polimerase em Tempo Real
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (Edar Receptor); 0 (Edar protein, mouse); 0 (PAX9 Transcription Factor)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170817
[St] Status:MEDLINE
[do] DOI:10.1177/0022034517726073


  4 / 193 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28040065
[Au] Autor:Kirac D; Eraydin F; Avcilar T; Ulucan K; Özdemir F; Guney AI; Kaspar EÇ; Keshi E; Isbir T
[Ad] Endereço:Faculty of Medicine, Department of Medical Biology, Yeditepe University, Istanbul, Turkey.
[Ti] Título:Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth.
[So] Source:Cell Mol Biol (Noisy-le-grand);62(13):78-84, 2016 Nov 30.
[Is] ISSN:1165-158X
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:ooth agenesis, affecting up to 20% of human population, is one of the most common congenital disorder. The most frequent form of tooth agenesis is known as hypodontia, which is characterized by the absence of one to five permanent teeth excluding third molars. It was considered that hypodontia is especially related with gene mutations which play role in tooth formation. Additionally mutations in PAX9 and/or MSX1 have been identified as the defects responsible for missing permanent molars and second premolars. In some studies it was also found that PAX9 and MSX1 gene mutations may change tooth size. Therefore  in this study all of these factors were investigated. Thirty one patients and 30 controls were enrolled to the study. Information about tooth sizes and type of congenitally missing teeth were collected. MSX1 and PAX9 gene mutations were investigated by direct sequencing. Results were evaluated statistically. As a result, 22 variations were detected in PAX9 in which 18 of them are novel. In addition, 7 variations were found in MSX1 in which 5 of them are novel and one of them lead to amino acid change. Statistically significant relations were found between detected variations and tooth sizes. Any relation between mutations and type of congenitally missing teeth were not detected. In conclusion, especially new mutations which may cause hypodontia, effect tooth size and type of congenitally missing teeth, should be investigated with other researchers for clarifying the mechanism.
[Mh] Termos MeSH primário: Anodontia/genética
Fator de Transcrição MSX1/genética
Fator de Transcrição PAX9/genética
[Mh] Termos MeSH secundário: Regiões 3' não Traduzidas
Anodontia/patologia
Sequência de Bases
Estudos de Casos e Controles
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Análise Mutacional de DNA
Éxons
Seres Humanos
Íntrons
Reação em Cadeia da Polimerase
Polimorfismo Genético
Dente/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (3' Untranslated Regions); 0 (MSX1 Transcription Factor); 0 (MSX1 protein, human); 0 (PAX9 Transcription Factor); 0 (PAX9 protein, human); 9007-49-2 (DNA)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170208
[Lr] Data última revisão:
170208
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170102
[St] Status:MEDLINE
[do] DOI:10.14715/cmb/2016.62.13.14


  5 / 193 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:27756766
[Au] Autor:Prathibha Y; Senthilkumaran B
[Ad] Endereço:Department of Animal BiologySchool of Life Sciences, University of Hyderabad, P.O. Central University, Hyderabad, Telangana, India.
[Ti] Título:Involvement of pax2 in ovarian development and recrudescence of catfish: a role in steroidogenesis.
[So] Source:J Endocrinol;231(3):181-195, 2016 Dec.
[Is] ISSN:1479-6805
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PAX2, a member of paired box family, is an essential transcription factor for the organ development in vertebrates including teleosts, yet no evidence has been shown for its involvement in reproduction. To study this, partial- and/or full-length cDNA of pax2 was isolated from the ovary of catfish, Clarias batrachus, along with its other Pax family members, pax1 and pax9 Tissue distribution and ontogeny expression analysis indicated the prevalence of pax2 but not pax1 and pax9 in ovary. Varied phase-wise expression during ovarian cycle and elevation of pax2 after human chorionic gonadotropin induction showed probable regulation by gonadotropins. Pax2 could be localized in various stages of oocytes and in follicular layer of vitellogenic and post-vitellogenic oocytes. To assess the functional significance of pax2, transient RNA silencing was performed using primary catfish ovarian follicle culture, in vitro, and in catfish, in vivo, through ovary-targeted injection of PEI-esiRNA. Pax2 siRNA treatment reduced the expression of various transcripts related to ovarian development like signaling molecules such as wnt4 and wnt5, estrogen receptors, several steroidogenic enzymes and transcription factors. These transitions in transcript levels might have been mediated by Pax2 acting upstream of wnt4/5 that may play a role in steroidogenesis and/or ovarian development along with ad4bp/sf-1 or by direct or indirect interaction with steroidogenic enzyme genes, which is evident from the change in the levels of serum estradiol-17ß but not 17α,20ß-dihydroxy-4-pregnen-3-one. Taken together, it seems that pax2 has a plausible role during ovarian development and/or recrudescence of catfish either directly or indirectly through Wnt signaling pathway.
[Mh] Termos MeSH primário: Peixes-Gato/crescimento & desenvolvimento
Peixes-Gato/metabolismo
Proteínas de Peixes/metabolismo
Ovário/crescimento & desenvolvimento
Ovário/metabolismo
Fator de Transcrição PAX2/metabolismo
Esteroides/biossíntese
[Mh] Termos MeSH secundário: Animais
Peixes-Gato/genética
Gonadotropina Coriônica/administração & dosagem
Clonagem Molecular
DNA Complementar/genética
Estradiol/metabolismo
Feminino
Proteínas de Peixes/antagonistas & inibidores
Proteínas de Peixes/genética
Regulação da Expressão Gênica no Desenvolvimento
Seres Humanos
Hidroxiprogesteronas/metabolismo
Ovário/efeitos dos fármacos
Fator de Transcrição PAX2/antagonistas & inibidores
Fator de Transcrição PAX2/genética
Fator de Transcrição PAX9/genética
Fator de Transcrição PAX9/metabolismo
Fatores de Transcrição Box Pareados/genética
Fatores de Transcrição Box Pareados/metabolismo
Filogenia
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
RNA Interferente Pequeno/genética
Técnicas de Cultura de Tecidos
Via de Sinalização Wnt
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chorionic Gonadotropin); 0 (DNA, Complementary); 0 (Fish Proteins); 0 (Hydroxyprogesterones); 0 (PAX2 Transcription Factor); 0 (PAX9 Transcription Factor); 0 (Paired Box Transcription Factors); 0 (RNA, Messenger); 0 (RNA, Small Interfering); 0 (Steroids); 10456-50-5 (17,20-dihydroxy-4-pregnen-3-one); 142661-96-9 (PAX1 transcription factor); 4TI98Z838E (Estradiol)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170606
[Lr] Data última revisão:
170606
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161021
[St] Status:MEDLINE


  6 / 193 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27665865
[Au] Autor:Salvi A; Giacopuzzi E; Bardellini E; Amadori F; Ferrari L; De Petro G; Borsani G; Majorana A
[Ad] Endereço:Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, I-25123 Brescia, Italy.
[Ti] Título:Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.
[So] Source:Int J Mol Med;38(5):1338-1348, 2016 Nov.
[Is] ISSN:1791-244X
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing teeth), or anodontia (lack of all teeth). Tooth agenesis may occur either in association with genetic syndromes, based on the presence of other inherited abnormalities, or as a non-syndromic trait, with both familiar and sporadic cases reported. In this study, we enrolled 16 individuals affected by tooth agenesis, prevalently hypodontia, and we carried out direct Sanger sequencing of paired box 9 (PAX9) and Msh homeobox 1 (MSX1) genes in 9 subjects. Since no mutations were identified, we performed whole exome sequencing (WES) in the members of 5 families to identify causative gene mutations either novel or previously described. Three individuals carried a known homozygous disease mutation in the Wnt family member 10A (WNT10A) gene (rs121908120). Interestingly, two of these individuals were siblings and also carried a heterozygous functional variant in EDAR-associated death domain (EDARADD) (rs114632254), another disease causing gene, generating a combination of genetic variants never described until now. The analysis of exome sequencing data in the members of other 3 families highlighted new candidate genes potentially involved in tooth agenesis and considered suitable for future studies. Overall, our study confirmed the major role played by WNT10A in tooth agenesis and the genetic heterogeneity of this disease. Moreover, as more genes are shown to be involved in tooth agenesis, WES analysis may be an effective approach to search for genetic variants in familiar or sporadic tooth agenesis, at least in more severe clinical manifestations.
[Mh] Termos MeSH primário: Anodontia/genética
Análise Mutacional de DNA/métodos
Exoma/genética
Mutação
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Bases
Criança
Proteína de Domínio de Morte Associada a Edar/genética
Saúde da Família
Feminino
Seres Humanos
Fator de Transcrição MSX1/genética
Masculino
Meia-Idade
Fator de Transcrição PAX9/genética
Polimorfismo de Nucleotídeo Único
Proteínas Wnt/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EDARADD protein, human); 0 (Edar-Associated Death Domain Protein); 0 (MSX1 Transcription Factor); 0 (MSX1 protein, human); 0 (PAX9 Transcription Factor); 0 (PAX9 protein, human); 0 (WNT10A protein, human); 0 (Wnt Proteins)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170321
[Lr] Data última revisão:
170321
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160927
[St] Status:MEDLINE
[do] DOI:10.3892/ijmm.2016.2742


  7 / 193 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27491081
[Au] Autor:Haddaji Mastouri M; De Coster P; Zaghabani A; Trabelsi S; May Y; Saad A; Coucke P; H'mida Ben Brahim D
[Ad] Endereço:Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Ibn Aljazzar street, 4031, Sousse, Tunisia. Electronic address: marwa.mastouri@gmail.com.
[Ti] Título:Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.
[So] Source:Arch Oral Biol;71:110-116, 2016 Nov.
[Is] ISSN:1879-1506
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Dental agenesis is the most common developmental anomaly in man and may present either as an isolated trait or as part of a syndrome, such as ectodermal dysplasia. Until now, the underlying molecular pathogenic mechanisms responsible for dental agenesis are still largely unknown. Several genetic and molecular studies have demonstrated that at least 300 genes are involved in tooth formation and development, coding for specific transcriptional factors, receptors or growth factors that are expressed at specific developmental stages. Dental agenesis in this respect is believed to result from altered expression of one or more of these factors during initiation and early morphogenesis of the tooth germ, and the first actors identified were MSX1 and PAX9. DESIGN: In this study, we focalized on a Tunisian family with a non-syndromic autosomal dominant form of tooth agenesis. In order to screen for the eventual genetic cause of dental agenesis in this family we sequenced 4 genes; PAX9, WNT10A, MSX1 and AXIN2 using Sanger sequencing. RESULTS: Direct Screening analysis of PAX9 gene, revealed a novel mutation p.Asp200Serfs*13. It consists of a duplication of 5 basepairs leading to a codon stop 13 position downstream. This novel mutation was found in all affected family members. CONCLUSIONS: In this report, we present the first genetic study of a Tunisian family with a non-syndromic autosomal dominant form of tooth agenesis, in which we identified in PAX9 gene a novel mutation. It most likely results in nonsense mediated RNA decay and haploinsifficiency that reduce the transactivation capacity of PAX9.
[Mh] Termos MeSH primário: Anodontia/genética
Mutação/genética
Fator de Transcrição PAX9/genética
[Mh] Termos MeSH secundário: Anodontia/diagnóstico por imagem
Cefalometria
Feminino
Seres Humanos
Masculino
Linhagem
Fenótipo
Tunísia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX9 Transcription Factor)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:160805
[St] Status:MEDLINE


  8 / 193 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27381449
[Au] Autor:Feng J; Jing J; Sanchez-Lara PA; Bootwalla MS; Buckley J; Wu N; Yan Y; Chai Y
[Ad] Endereço:Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA, 90033, USA.
[Ti] Título:Generation and characterization of tamoxifen-inducible Pax9-CreER knock-in mice using CrispR/Cas9.
[So] Source:Genesis;54(9):490-6, 2016 Sep.
[Is] ISSN:1526-968X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pax9 encodes a paired-box homeodomain (Pax) transcription factor and is critical for the development of multiple organs. Using CrispR/Cas9-mediated homologous directed repair (HDR), we generated a new Pax9-CreER knock-in mouse line in which the CreER(T2) fusion protein is produced after synthesis of endogenous Pax9 protein. We found that tdTomato reporter expression in Pax9-CreER;tdTomato reporter mice is detectable in a similar pattern to the endogenous Pax9 expression, faithfully recapitulating the Pax9 expression domains throughout the embryo and in the adult mouse. At early embryonic stages, the tdTomato reporter is expressed first in the pharyngeal pouch region and later in the craniofacial mesenchyme, somites, limbs, and lingual papillae in the adult tongue. These results demonstrate that this new Pax9-CreER knock-in mouse line can be used for lineage tracing and genetic targeting of Pax9-expressing cells and their progeny in a temporally and spatially controlled manner during development and organogenesis.
[Mh] Termos MeSH primário: Sistemas CRISPR-Cas
Técnicas de Introdução de Genes/métodos
[Mh] Termos MeSH secundário: Animais
Integrases/genética
Proteínas Luminescentes/genética
Proteínas Luminescentes/metabolismo
Camundongos
Camundongos Endogâmicos C57BL
Fator de Transcrição PAX9/genética
Tamoxifeno/farmacologia
Ativação Transcricional/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Luminescent Proteins); 0 (PAX9 Transcription Factor); 0 (red fluorescent protein); 094ZI81Y45 (Tamoxifen); EC 2.7.7.- (Cre recombinase); EC 2.7.7.- (Integrases)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170902
[Lr] Data última revisão:
170902
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160707
[St] Status:MEDLINE
[do] DOI:10.1002/dvg.22956


  9 / 193 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27365112
[Au] Autor:Shahid M; Balto HA; Al-Hammad N; Joshi S; Khalil HS; Somily AM; Sinjilawi NA; Al-Ghamdi S; Faiyaz-Ul-Haque M; Dhillon VS
[Ad] Endereço:Department of Biochemistry and Molecular Biology, College of Medicine, Prince Sattam Bin Abdulaziz University, Alkharj, Saudi Arabia. Electronic address: dr.shahid90@yahoo.com.
[Ti] Título:Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis.
[So] Source:Eur J Med Genet;59(8):377-85, 2016 Aug.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Tooth agenesis in human being is the most common congenital anomaly associated with dental development. Mutations in many genes such as MSH homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin A (EDA) and EDA receptor (EDAR) have been associated with familial form of this condition. However, in large majority of patients, genetic cause could not be identified. The primary aim of present study was to identify the causative mutation(s) in these genes in Saudi Arabian families diagnosed with non-syndromic form of disease. Direct sequencing of coding regions, including exon-intron boundaries of these genes was carried out. All identified nucleotide variations were also tested to exclude possibility of being rare polymorphisms. The sequence analysis of exons and exon-intronic regions of these genes revealed five new mutations that include four in MSX1, one in PAX9 and one single nucleotide polymorphism (SNP) in majority of the patients in MMP20. One novel mutation in exon 1 of MSX1 gene (5354C > G; A40G) was found in three patients. In addition, another novel mutation was detected in two patients in exon 3 (PAX9) as g.10672A > T which changes asparagine to isoleucine at position 40. These mutations were not found in any of the control subjects. A single SNP in MMP20 genes (g.5066A > C) that changes lysine to threonine at position 18 was found in 10% controls as well. Our results for the first time demonstrates that mutations in MSX1 gene might play an important role in hypodontia cases involving pre-molars and is a risk factor for this ethnic population mainly of Arabs and is first report linking these mutations with tooth agenesis.
[Mh] Termos MeSH primário: Anodontia/diagnóstico
Anodontia/genética
Fator de Transcrição MSX1/genética
Metaloproteinase 20 da Matriz/genética
Mutação
Fator de Transcrição PAX9/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Alelos
Sequência de Aminoácidos
Criança
Biologia Computacional/métodos
Análise Mutacional de DNA
Éxons
Feminino
Ordem dos Genes
Genótipo
Seres Humanos
Masculino
Meia-Idade
Fenótipo
Polimorfismo de Nucleotídeo Único
Arábia Saudita
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MSX1 Transcription Factor); 0 (MSX1 protein, human); 0 (PAX9 Transcription Factor); 0 (PAX9 protein, human); EC 3.4.24.- (Matrix Metalloproteinase 20)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170206
[Lr] Data última revisão:
170206
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160702
[St] Status:MEDLINE


  10 / 193 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27111773
[Au] Autor:Vieira AR; Kup E
[Ad] Endereço:Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pa., USA.
[Ti] Título:On the Etiology of Molar-Incisor Hypomineralization.
[So] Source:Caries Res;50(2):166-9, 2016.
[Is] ISSN:1421-976X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Molar-incisor hypomineralization (MIH) is a condition that is defined based on its peculiar clinical presentation. Reports on the etiology of the condition and possible risk factors are inconclusive and the original suggestion that MIH is an idiopathic condition is often cited. Our group was the first to suggest MIH has a genetic component that involves genetic variation in genes expressed during dental enamel formation. In this report, we provide a rationale to explain the preferential affection of molars and incisors. We suggest that MIH is a genetic condition based on its prevalence, which varies depending on the geographic location, and the evidence that on occasion second primary molars, permanent canines, and premolars can show signs of hypomineralization of enamel when molars and incisors are affected.
[Mh] Termos MeSH primário: Hipoplasia do Esmalte Dentário/genética
Esmalte Dentário/anormalidades
Incisivo/anormalidades
Dente Molar/anormalidades
[Mh] Termos MeSH secundário: Anodontia/genética
Esmalte Dentário/crescimento & desenvolvimento
Hipoplasia do Esmalte Dentário/epidemiologia
Hipoplasia do Esmalte Dentário/patologia
Feminino
Geografia
Seres Humanos
Incisivo/crescimento & desenvolvimento
Dente Molar/crescimento & desenvolvimento
Mutação
Fator de Transcrição PAX9/genética
Prevalência
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX9 Transcription Factor); 0 (PAX9 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:160426
[St] Status:MEDLINE
[do] DOI:10.1159/000445128



página 1 de 20 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