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[PMID]:29287889
[Au] Autor:Cesca F; Bettella E; Polli R; Cama E; Scimemi P; Santarelli R; Murgia A
[Ad] Endereço:Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy.
[Ti] Título:A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
[So] Source:Int J Pediatr Otorhinolaryngol;104:88-93, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. The proband and all the other hearing impaired members of the family underwent a thorough clinical and audiological evaluation. RESULTS: A new likely pathogenic mutation in the EYA4 gene (c.1154C > T; p.Ser385Leu) was identified in the proband and in her 42-year-old father with post-lingual non-syndromic profound sensorineural hearing loss. The EYA4 mutation was also found in the proband's grandfather and uncle, both showing clinical features of Waardenburg syndrome type 1. A novel pathogenic splice-site mutation (c.321+1G > A) of the PAX3 gene was found to co-segregate with the EYA4 mutation in these two subjects. CONCLUSION: The identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. In these two subjects the DFNA10 phenotype was masked by Waardenburg syndrome. The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide precise and especially important prognostic and follow-up information for the future audiologic management in the youngest affected member.
[Mh] Termos MeSH primário: Surdez/genética
Perda Auditiva Neurossensorial/genética
Fator de Transcrição PAX3/genética
Transativadores/genética
Síndrome de Waardenburg/genética
[Mh] Termos MeSH secundário: Adulto
Audiometria
Criança
Família
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Mutação
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EYA4 protein, human); 0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (Trans-Activators)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE


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[PMID]:29224278
[Au] Autor:Zhao M; LaoI QY; Zhao DH; Ma J; Ru GQ; He XL; Wang Z; Wang J
[Ad] Endereço:Department of Pathology, Zhejiang Provincial People's Hospital, Hangzhou 310014, China.
[Ti] Título:[Clinicopathologic and molecular genetic characterizations of biphenotypic sinonasal sarcoma].
[So] Source:Zhonghua Bing Li Xue Za Zhi;46(12):841-846, 2017 Dec 08.
[Is] ISSN:0529-5807
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To investigate the clinicopathologic characteristics, immunophenotypes, molecular genetics, and diagnostic and differential diagnostic features of biphenotypic sinonasal sarcoma (BSNS). Three cases of BSNS were retrieved, the histomorphology, immunophenotype and molecular genetics were analyzed with review of literature. There were 2 male and 1 female patient aged 45, 29 and 40 years, respectively.Computed tomography and magnetic resonance imaging examinations showed a large polypoid mass occupying the sinonasal cavity in all 3 patients. Microscopically, these tumors were un-circumscribed and composed of cellular spindle-shaped cells arranged in long and interlaced fascicles. A hemangiopericytoma-like growth pattern was frequently identified. The overlying hyperplastic respiratory epithelium invaginated down into the tumor forming a cystic (2 cases), glandular (1 case) structures and inverted in a papilloma-like (1 case)pattern, and foci of eosinophilic metaplasia were also noted in 2 of the three cases. The tumor nuclei were bland-appearing, mitoses were scarce and necrosis was absent. Immunohistochemically, the tumor cells showed co-expression of neural and myogenic markers in all the 3 cases, including that 3/3 showed diffuse and strong positivity of S-100 protein, 3/3 positivity of smooth muscle actin (1 diffuse and 2 focal), 1/2 diffuse positivity of calponin, 1/3 focal positivity of desmin, and 1/1 focal positivity of MyoD1.In addition, 1 detected for ß-catenin showed focal nuclear positivity. None of the 3 showed positivity to cytokeratin, CD34 or SOX10 in the tumor cells.Ki-67 showed an index <5%, 10% and <2%, respectively. Fluorescence in situ hybridization analysis showed rearrangements of PAX3 gene in all 3 cases. In case 3, reverse transcription polymerase chain reaction, followed by Sanger sequencing, demonstrated an in-frame fusion between PAX3 and FOXO1.Follow-up information (range 3-15 months)showed no evidence of local recurrence or distant metastasis in three cases. BSNS is a newly described entity which can be readily confused with a variety of benign and malignant spindle cell tumors encountered in the sinonasal cavity; immunohistochemistry co-expression of neural and myogenic markers and PAX3 gene rearrangement can help distinguish this tumor from its many mimickers.
[Mh] Termos MeSH primário: Neoplasias dos Seios Paranasais/genética
Neoplasias dos Seios Paranasais/patologia
Sarcoma/genética
Sarcoma/patologia
[Mh] Termos MeSH secundário: Adulto
Biomarcadores Tumorais/análise
Núcleo Celular
Desmina/análise
Diagnóstico Diferencial
Feminino
Rearranjo Gênico
Hemangiopericitoma/patologia
Seres Humanos
Imuno-Histoquímica
Imunofenotipagem
Hibridização in Situ Fluorescente
Queratinas/análise
Masculino
Meia-Idade
Recidiva Local de Neoplasia
Fator de Transcrição PAX3/genética
Neoplasias dos Seios Paranasais/química
Neoplasias dos Seios Paranasais/imunologia
Proteínas S100/análise
Fatores de Transcrição SOXE/análise
Sarcoma/química
Sarcoma/imunologia
beta Catenina/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (CTNNB1 protein, human); 0 (Desmin); 0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (S100 Proteins); 0 (SOXE Transcription Factors); 0 (beta Catenin); 68238-35-7 (Keratins)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180202
[Lr] Data última revisão:
180202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-5807.2017.12.006


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[PMID]:29287868
[Au] Autor:Chen K; Zhan Y; Wu X; Zong L; Jiang H
[Ad] Endereço:Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-Sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China.
[Ti] Título:Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.
[So] Source:Int J Pediatr Otorhinolaryngol;104:200-204, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed. RESULTS: The two probands were found to share double mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent. CONCLUSION: These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. To our knowledge, this is the first report describing germinal mosaicism in Waardenburg syndrome. This concept is important because it complicates genetic counseling of this family regarding the risk of recurrence of the mutations in subsequent pregnancies.
[Mh] Termos MeSH primário: Surdez/genética
Fator de Transcrição PAX3/genética
Síndrome de Waardenburg/genética
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático/genética
Criança
Feminino
Aconselhamento Genético
Genótipo
Testes Auditivos
Homozigoto
Seres Humanos
Masculino
Mosaicismo
Mutação
Fatores de Transcrição Box Pareados/genética
Relações Pais-Filho
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (Paired Box Transcription Factors)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE


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[PMID]:29277758
[Au] Autor:Ahn EH; Lee MB; Seo DJ; Lee J; Kim Y; Gupta K
[Ad] Endereço:Department of Pathology, School of Medicine, University of Washington, Seattle, WA, U.S.A. ahneun@uw.edu.
[Ti] Título:Sphingosine Induces Apoptosis and Down-regulation of in PAX3-FOXO1-positive Alveolar Rhabdomyosarcoma Cells Irrespective of Mutation.
[So] Source:Anticancer Res;38(1):71-76, 2018 01.
[Is] ISSN:1791-7530
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIM: Rhabdomyosarcoma is the most common type of pediatric soft-tissue sarcoma. Among the subsets of this disease, alveolar rhabdomyosarcoma (ARMS) expressing paired box 3 (PAX3) and forkhead box O1 (PAX3-FOXO1) fusion oncoprotein has the worst prognosis. The goal of this study was to investigate the chemotherapeutic effects of sphingosine on PAX3-FOXO1-positive ARMS cells [tumor protein p53 (TP53)-mutated RH30 and TP53 wild-type RH18 cells]. MATERIALS AND METHODS: The proliferation, cell death, apoptosis, cell cycle, and MYCN proto-oncogene (MYCN) expression of RH30 and RH18 cells were determined. RESULTS: Sphingosine inhibited the growth and caused cell death in a dose-dependent manner in both cell lines. Sphingosine triggered cell death by inducing apoptosis without affecting the cell cycle. MYCN expression was down-regulated within 2 and 4 h of sphingosine treatment in both RH30 and RH18 cells. CONCLUSION: Sphingosine exerts antiproliferative and pro-apoptotic effects via MYCN down-regulation independently of TP53 mutation status in PAX3-FOXO1-positive ARMS cells.
[Mh] Termos MeSH primário: Antineoplásicos/farmacologia
Proteína Proto-Oncogênica N-Myc/genética
Rabdomiossarcoma Alveolar/genética
Esfingosina/farmacologia
[Mh] Termos MeSH secundário: Apoptose/efeitos dos fármacos
Linhagem Celular Tumoral
Regulação para Baixo/efeitos dos fármacos
Proteína Forkhead Box O1/metabolismo
Seres Humanos
Mutação
Fator de Transcrição PAX3/metabolismo
Rabdomiossarcoma Alveolar/metabolismo
Proteína Supressora de Tumor p53/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (FOXO1 protein, human); 0 (Forkhead Box Protein O1); 0 (MYCN protein, human); 0 (N-Myc Proto-Oncogene Protein); 0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (TP53 protein, human); 0 (Tumor Suppressor Protein p53); NGZ37HRE42 (Sphingosine)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180104
[Lr] Data última revisão:
180104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171227
[St] Status:MEDLINE


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[PMID]:29224756
[Au] Autor:Trabelsi M; Nouira M; Maazoul F; Kraoua L; Meddeb R; Ouertani I; Chelly I; Benoit V; Besbes G; Mrad R
[Ad] Endereço:Université de Tunis El Manar, Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia. Electronic address: mediha_tr@yahoo.fr.
[Ti] Título:Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
[So] Source:Int J Pediatr Otorhinolaryngol;103:14-19, 2017 Dec.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous. The aims of this study are to confirm the diagnostic of WS1 by the sequencing of PAX3 gene and to evaluate the genotype phenotype correlation. A clinical classification was established for 14 patients WS, as proposed by the Waardenburg Consortium, and noted a predominance of type 1 and type 2 with 6 patients WS1, 7 patients WS2 and 1 patient WS3. A significant inter and intra-familial clinical heterogeneity was also observed. A sequencing of PAX3 gene in the 6 patients WS1 confirmed the diagnosis in 4 of them by revealing three novel mutations that modify two functional domains of the protein: the c.942delC; the c.933_936dupTTAC and the c.164delTCCGCCACA. These three variations are most likely responsible for the phenotype, however their pathogenic effects need to be confirmed by functional studies. The MLPA analysis of the 2 patients who were sequence negative for PAX3 gene revealed, in one of them, a heterozygous deletion of exons 5 to 9 confirming the WS1 diagnosis. Both clinical and molecular approaches led to the conclusion that there is a lack of genotype-phenotype correlation in WS1, an element that must be taken into account in genetic counseling. The absence of PAX3 mutation in one patient WS1 highlights the fact that the clinical classification is sometimes insufficient to distinguish WS1 from other types WS hence the interest of sequencing the other WS genes in this patient.
[Mh] Termos MeSH primário: Fator de Transcrição PAX3/genética
Síndrome de Waardenburg/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Feminino
Estudos de Associação Genética
Seres Humanos
Lactente
Masculino
Mutação
Linhagem
Fenótipo
Análise de Sequência de DNA/métodos
Tunísia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX3 Transcription Factor)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171226
[Lr] Data última revisão:
171226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE


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[PMID]:28972999
[Au] Autor:Mohammed RH; Anderton H; Brameld JM; Sweetman D
[Ad] Endereço:School of Biosciences, University of Nottingham, Sutton Bonington Campus, Loughborough, United Kingdom.
[Ti] Título:Effects of insulin like growth factors on early embryonic chick limb myogenesis.
[So] Source:PLoS One;12(10):e0185775, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Limb muscles derive from pax3 expressing precursor cells that migrate from the hypaxial somite into the developing limb bud. Once there they begin to differentiate and express muscle determination genes such as MyoD. This process is regulated by a combination of inductive or inhibitory signals including Fgf18, retinoic acid, HGF, Notch and IGFs. IGFs are well known to affect late stages of muscle development and to promote both proliferation and differentiation. We examined their roles in early stage limb bud myogenesis using chicken embryos as an experimental model. Grafting beads soaked in purified recombinant IGF-I, IGF-II or small molecule inhibitors of specific signaling pathways into developing chick embryo limbs showed that both IGF-I and IGF-II induce expression of the early stage myogenic markers pax3 and MyoD as well as myogenin. Their effects on pax3 and MyoD expression were blocked by inhibitors of both the IGF type I receptor (picropodophyllotoxin, PPP) and MEK (U0126). The PI3K inhibitor LY294002 blocked IGF-II, but not IGF-I, induction of pax3 mRNA as well as the IGF-I, but not IGF-II, induction of MyoD mRNA. In addition SU5402, an FGFR/ VEGFR inhibitor, blocked the induction of MyoD by both IGFs but had no effect on pax3 induction, suggesting a role for FGF or VEGF signaling in their induction of MyoD. This was confirmed by in situ hybridization showing that FGF18, a known regulator of MyoD in limb myoblasts, was induced by IGF-I. In addition to their well-known effects on later stages of myogenesis via their induction of myogenin expression, both IGF-I and IGF-II induced pax3 and MyoD expression in developing chick embryos, indicating that they also regulate early stages of myogenesis. The data suggests that the IGFs may have slightly different effects on IGF1R signal transduction via PI3K and that their stimulatory effects on MyoD expression may be indirect, possibly via induction of FGF18 expression.
[Mh] Termos MeSH primário: Embrião de Galinha/efeitos dos fármacos
Membro Posterior/efeitos dos fármacos
Fator de Crescimento Insulin-Like II/farmacologia
Fator de Crescimento Insulin-Like I/farmacologia
Desenvolvimento Muscular/efeitos dos fármacos
Músculo Esquelético/efeitos dos fármacos
[Mh] Termos MeSH secundário: Animais
Butadienos/farmacologia
Embrião de Galinha/metabolismo
Cromonas/farmacologia
Inibidores Enzimáticos/farmacologia
Fatores de Crescimento de Fibroblastos/genética
Fatores de Crescimento de Fibroblastos/metabolismo
Regulação da Expressão Gênica no Desenvolvimento
Membro Posterior/metabolismo
Morfolinas/farmacologia
Desenvolvimento Muscular/fisiologia
Músculo Esquelético/metabolismo
Proteína MyoD/genética
Proteína MyoD/metabolismo
Miogenina/genética
Miogenina/metabolismo
Nitrilos/farmacologia
Fator de Transcrição PAX3/genética
Fator de Transcrição PAX3/metabolismo
Fosfatidilinositol 3-Quinases/antagonistas & inibidores
Podofilotoxina/análogos & derivados
Podofilotoxina/farmacologia
Pirróis/farmacologia
Receptor IGF Tipo 1/antagonistas & inibidores
Receptores de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Butadienes); 0 (Chromones); 0 (Enzyme Inhibitors); 0 (Morpholines); 0 (MyoD Protein); 0 (Myogenin); 0 (Nitriles); 0 (PAX3 Transcription Factor); 0 (Pyrroles); 0 (SU 5402); 0 (U 0126); 0 (fibroblast growth factor 18); 0F35AOI227 (picropodophyllin); 31M2U1DVID (2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one); 62031-54-3 (Fibroblast Growth Factors); 67763-96-6 (Insulin-Like Growth Factor I); 67763-97-7 (Insulin-Like Growth Factor II); EC 2.7.1.- (Phosphatidylinositol 3-Kinases); EC 2.7.10.1 (Receptor, IGF Type 1); EC 2.7.10.1 (Receptors, Vascular Endothelial Growth Factor); L36H50F353 (Podophyllotoxin)
[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:171004
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185775


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[PMID]:28893539
[Au] Autor:Wang XP; Hao ZQ; Liu YL; Mei LY; He CF; Niu ZJ; Sun J; Zhao YL; Feng Y
[Ad] Endereço:Department of Otolaryngology Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, People's Republic of China.
[Ti] Título:Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.
[So] Source:Biochem Biophys Res Commun;493(1):258-262, 2017 Nov 04.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Recently, we identified a SOX10 missense mutation c.422T > C (p.L141P) associated with WS2. We performed functional assays and found the mutant loses DNA-binding capacity, shows aberrant cytoplasmic and nuclear localization, and fails to interact with PAX3. Therefore, the mutant cannot transactivate the MITF promoter effectively, inhibiting melanin synthesis and leading to WS2. Our study confirmed haploinsufficiency as the underlying pathogenesis for WS2.
[Mh] Termos MeSH primário: Haplótipos/genética
Fator de Transcrição PAX3/genética
Polimorfismo de Nucleotídeo Único/genética
Fatores de Transcrição SOXE/genética
Síndrome de Waardenburg/genética
[Mh] Termos MeSH secundário: Adolescente
Seres Humanos
Masculino
Mutação/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 0 (SOX10 protein, human); 0 (SOXE Transcription Factors)
[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:170913
[St] Status:MEDLINE


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[PMID]:28381738
[Au] Autor:Ohno T; Maegawa T; Katoh H; Miyasaka Y; Suzuki M; Kobayashi M; Horio F
[Ad] Endereço:Division of Experimental Animals, Graduate School of Medicine, Nagoya University, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi 466-8550, Japan.
[Ti] Título:A new missense mutation in the paired domain of the mouse Pax3 gene.
[So] Source:Exp Anim;66(3):245-250, 2017 Aug 05.
[Is] ISSN:1881-7122
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:Mice with dominant white spotting occurred spontaneously in the C3.NSY-(D11Mit74-D11Mit229) strain. Linkage analysis indicated that the locus for white spotting was located in the vicinity of the Pax3 gene on chromosome 1. Crosses of white-spotted mice showed that homozygosity for the mutation caused tail and limb abnormalities and embryonic lethality as a result of exencephaly; these phenotypes were analogous to those found in other Pax3 mutants. Sequence analysis identified a missense point mutation (c.101G>A) in exon 2 of Pax3 that resulted in a methionine to isoleucine conversion at amino acid 62 of the PAX3 protein. This mutation site was located in the N-terminal HTH (helix-turn-helix) motif of the paired domain of Pax3, which is necessary for binding to DNA and is highly conserved in vertebrate species. Alteration of DNA binding affinity was responsible for embryonic lethality in homozygotes and white spotting in heterozygotes. We named the mutant allele as Pax3 . The C3H/HeN-Pax3 strain may be useful for analyzing the function of Pax3 as a new model of the human disease, Waardenburg Syndrome.
[Mh] Termos MeSH primário: Mutação de Sentido Incorreto
Fator de Transcrição PAX3/genética
Mutação Puntual
Domínios Proteicos/genética
Síndrome de Waardenburg/genética
[Mh] Termos MeSH secundário: Alelos
Sequência de Aminoácidos/genética
Animais
DNA/metabolismo
Modelos Animais de Doenças
Sequências Hélice-Volta-Hélice/genética
Seres Humanos
Isoleucina
Metionina
Camundongos Endogâmicos
Fator de Transcrição PAX3/química
Fator de Transcrição PAX3/metabolismo
Fator de Transcrição PAX3/fisiologia
Ligação Proteica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX3 Transcription Factor); 04Y7590D77 (Isoleucine); 138016-91-8 (Pax3 protein, mouse); 9007-49-2 (DNA); AE28F7PNPL (Methionine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170407
[St] Status:MEDLINE
[do] DOI:10.1538/expanim.17-0013


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[PMID]:28378394
[Au] Autor:Selfe JL; Shipley J
[Ad] Endereço:Sarcoma Molecular Pathology Team, Divisions of Molecular Pathology and Cancer Therapeutics, Institute of Cancer Research, London, UK.
[Ti] Título:Fusion gene addiction: can tumours be forced to give up the habit?
[So] Source:J Pathol;242(3):263-266, 2017 Jul.
[Is] ISSN:1096-9896
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Fusion of genes in tumours can have oncogenic roles in reprogramming cells through overexpression of oncogenes or the production of novel fusion proteins. A fundamental question in cancer biology is what genetic events are critical for initiation and whether these are also required for cancer progression. In recent work published in The Journal of Pathology, dependency on a fusion protein was addressed using a model of alveolar rhabdomyosarcomas - a sarcoma subtype with frequent fusion of PAX3 and FOXO1 genes that is associated with poor outcome. PAX3-FOXO1 encodes a potent transcription factor that together with MYCN alters the transcriptional landscape of cells. Building on previous work, an inducible model in human myoblast cells was used to show that PAX3-FOXO1 and MYCN can initiate rhabdomyosarcoma development but, contrary to current thinking, tumour recurrences occasionally arose independent of the fusion protein. Further work needs to identify the molecular nature of this independence and assess any relevance in human tumours. Such functional approaches are required together with computational modeling of molecular data to unravel spatial and temporal dependencies on specific genetic events. This may support molecular prognostic markers and therapeutic targets. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
[Mh] Termos MeSH primário: Fusão Gênica
Neoplasias/genética
Proteínas de Fusão Oncogênicas/genética
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Proteína Forkhead Box O1/genética
Seres Humanos
Camundongos
Recidiva Local de Neoplasia/genética
Fator de Transcrição PAX3/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FOXO1 protein, human); 0 (Forkhead Box Protein O1); 0 (Foxo1 protein, mouse); 0 (Oncogene Proteins, Fusion); 0 (PAX3 Transcription Factor); 0 (PAX3 protein, human); 138016-91-8 (Pax3 protein, mouse)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE
[do] DOI:10.1002/path.4902


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[PMID]:28223217
[Au] Autor:Cao S; Du J; Lv Y; Lin H; Mao Z; Xu M; Liu M; Liu Y
[Ad] Endereço:Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Nantong University, Nantong, Jiangsu Province 226001, PR China.
[Ti] Título:PAX3 inhibits ß-Tubulin-III expression and neuronal differentiation of neural stem cell.
[So] Source:Biochem Biophys Res Commun;485(2):307-311, 2017 Apr 01.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PAX3 functions at the nodal point in neural stem cell maintenance and differentiation. Using bioinformatics methods, we identified PAX3 as a potential regulator of ß-Tubulin-III (TUBB3) gene transcription, and the results indicated that PAX3 might be involved in neural stem cell (NSC) differentiation by orchestrating the expression of cytoskeletal proteins. In the present study, we reported that PAX3 could inhibit the differentiation of NSCs and the expression of TUBB3. Further, using luciferase and electrophoretic mobility shift assays, we demonstrated that PAX3 could bind to the promoter region of TUBB3 and inhibit TUBB3 transcription. Finally, we confirmed that PAX3 could bind to the promoter region of endogenous TUBB3 in the native chromatin of NSCs. These findings indicated that PAX3 is a pivotal factor targeting various molecules during differentiation of NSCs in vitro.
[Mh] Termos MeSH primário: Regulação da Expressão Gênica no Desenvolvimento
Células-Tronco Neurais/citologia
Neurogênese
Fator de Transcrição PAX3/metabolismo
Tubulina (Proteína)/genética
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Regulação para Baixo
Células HEK293
Seres Humanos
Células-Tronco Neurais/metabolismo
Fator de Transcrição PAX3/genética
Regiões Promotoras Genéticas
Interferência de RNA
RNA Interferente Pequeno/genética
Ratos Sprague-Dawley
Ativação Transcricional
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PAX3 Transcription Factor); 0 (PAX3 protein, rat); 0 (RNA, Small Interfering); 0 (Tubb3 protein, rat); 0 (Tubulin)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170613
[Lr] Data última revisão:
170613
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE



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