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[PMID]:29253894
[Au] Autor:Wei W; Gomez-Duran A; Hudson G; Chinnery PF
[Ad] Endereço:MRC-Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[Ti] Título:Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
[So] Source:PLoS Genet;13(12):e1007126, 2017 12.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Inherited mitochondrial DNA (mtDNA) mutations have emerged as a common cause of human disease, with mutations occurring multiple times in the world population. The clinical presentation of three pathogenic mtDNA mutations is strongly associated with a background mtDNA haplogroup, but it is not clear whether this is limited to a handful of examples or is a more general phenomenon. To address this, we determined the characteristics of 30,506 mtDNA sequences sampled globally. After performing several quality control steps, we ascribed an established pathogenicity score to the major alleles for each sequence. The mean pathogenicity score for known disease-causing mutations was significantly different between mtDNA macro-haplogroups. Several mutations were observed across all haplogroup backgrounds, whereas others were only observed on specific clades. In some instances this reflected a founder effect, but in others, the mutation recurred but only within the same phylogenetic cluster. Sequence diversity estimates showed that disease-causing mutations were more frequent on young sequences, and genomes with two or more disease-causing mutations were more common than expected by chance. These findings implicate the mtDNA background more generally in recurrent mutation events that have been purified through natural selection in older populations. This provides an explanation for the low frequency of mtDNA disease reported in specific ethnic groups.
[Mh] Termos MeSH primário: DNA Mitocondrial/genética
Mutação
Atrofia Óptica Hereditária de Leber/genética
[Mh] Termos MeSH secundário: Alelos
Sequência de Bases
Bases de Dados Genéticas
Efeito Fundador
Frequência do Gene
Variação Genética
Haplótipos
Seres Humanos
Mitocôndrias/genética
Filogenia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180227
[Lr] Data última revisão:
180227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171219
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1007126


  2 / 2609 MEDLINE  
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[PMID]:29331373
[Au] Autor:Kwack MH; Yang JM; Won GH; Kim MK; Kim JC; Sung YK
[Ad] Endereço:Department of Immunology, School of Medicine, Kyungpook National University, Daegu, South Korea.
[Ti] Título:Establishment and characterization of five immortalized human scalp dermal papilla cell lines.
[So] Source:Biochem Biophys Res Commun;496(2):346-351, 2018 02 05.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dermal papilla (DP) regulates the growth and cycling of hair follicles. Cultured DP cells are useful for the study of their role in relation to hair growth and regeneration. However, cultivation of human DP cells is tedious and difficult. In addition, cultured DP cells possess a relatively short replicative life span, requiring immortalized human DP cell lines. We previously established an immortalized human DP cell line, SV40T-hTERT-DPC, by introducing human telomerase reverse transcriptase (hTERT) gene into the transformed cell line, SV40T-DPC. In this study, we co-transfected the simian virus 40 large T antigen (SV40T-Ag) and hTERT into DP cells from scalp hair follicles from a male with androgenetic alopecia and established five immortalized DP cell lines and named KNU-101, KNU-102, KNU-103, KNU-201 and KNU-202. We then evaluated tumorigenicity, expression of DP markers, responses to androgen, Wnt3a and BMP4, and expression of DP signature genes. These cell lines displayed early passage morphology and maintained responses to androgen, Wnt and BMP. Furthermore, these cell lines expressed DP markers and DP signature genes. KNU cell lines established in this study are potentially useful sources for hair research.
[Mh] Termos MeSH primário: Alopecia/genética
Derme/metabolismo
Efeito Fundador
Folículo Piloso/metabolismo
[Mh] Termos MeSH secundário: Células A549
Alopecia/metabolismo
Alopecia/patologia
Animais
Biglicano/genética
Biglicano/metabolismo
Biomarcadores/metabolismo
Proteína Morfogenética Óssea 4/farmacologia
Carcinogênese/genética
Carcinogênese/metabolismo
Carcinogênese/patologia
Linhagem Celular Transformada
Derme/patologia
Di-Hidrotestosterona/farmacologia
Feminino
Expressão Gênica
Folículo Piloso/efeitos dos fármacos
Folículo Piloso/patologia
Seres Humanos
Queratina-8/genética
Queratina-8/metabolismo
Masculino
Camundongos
Camundongos Endogâmicos BALB C
Camundongos Nus
Receptores Androgênicos/genética
Receptores Androgênicos/metabolismo
Couro Cabeludo/metabolismo
Couro Cabeludo/patologia
Versicanas/genética
Versicanas/metabolismo
Proteína Wnt3A/farmacologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (BGN protein, human); 0 (BMP4 protein, human); 0 (Biglycan); 0 (Biomarkers); 0 (Bone Morphogenetic Protein 4); 0 (KRT8 protein, human); 0 (Keratin-8); 0 (Receptors, Androgen); 0 (VCAN protein, human); 0 (WNT3A protein, human); 0 (Wnt3A Protein); 08J2K08A3Y (Dihydrotestosterone); 126968-45-4 (Versicans)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180115
[St] Status:MEDLINE


  3 / 2609 MEDLINE  
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[PMID]:29025590
[Au] Autor:Qian Y; Mancini-DiNardo D; Judkins T; Cox HC; Brown K; Elias M; Singh N; Daniels C; Holladay J; Coffee B; Bowles KR; Roa BB
[Ad] Endereço:Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA.
[Ti] Título:Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
[So] Source:Cancer Genet;216-217:159-169, 2017 Oct.
[Is] ISSN:2210-7762
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here we evaluate RE insertions identified during hereditary cancer genetic testing using a comprehensive testing strategy. Individuals who had single-syndrome or pan-cancer hereditary cancer genetic testing from February 2004 to March 2017 were included. RE insertions were identified using Sanger sequencing, Next Generation Sequencing, or multiplex quantitative PCR, and further characterized using targeted PCR and sequencing analysis. Personal cancer history, ancestry, and haplotype were evaluated. A total of 37 unique RE insertions were identified in 10 genes, affecting 211 individuals. BRCA2 accounted for 45.9% (17/37) of all unique RE insertions. Several RE insertions were detected with high frequency in populations of conserved ancestry wherein up to 100% of carriers shared a high degree of haplotype conservation, suggesting founder effects. Our comprehensive testing strategy resulted in a substantial increase in the number of reported oncogenic RE insertions, several of which may have possible founder effects. Collectively, these data show that the detection of RE insertions is an important component of hereditary cancer genetic testing and may be more prevalent than previously reported.
[Mh] Termos MeSH primário: Genes Neoplásicos
Predisposição Genética para Doença
Mutagênese Insercional/genética
Neoplasias/genética
Retroelementos/genética
[Mh] Termos MeSH secundário: Elementos Alu/genética
Sequência de Bases
Efeito Fundador
Haplótipos/genética
Seres Humanos
Mutação/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Retroelements)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171014
[St] Status:MEDLINE


  4 / 2609 MEDLINE  
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[PMID]:28859141
[Au] Autor:Maccarana M; Svensson RB; Knutsson A; Giannopoulos A; Pelkonen M; Weis M; Eyre D; Warman M; Kalamajski S
[Ad] Endereço:Department of Experimental Medical Sciences, Lund University, Lund, Sweden.
[Ti] Título:Asporin-deficient mice have tougher skin and altered skin glycosaminoglycan content and structure.
[So] Source:PLoS One;12(8):e0184028, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The main structural component of connective tissues is fibrillar, cross-linked collagen whose fibrillogenesis can be modulated by Small Leucine-Rich Proteins/Proteoglycans (SLRPs). Not all SLRPs' effects on collagen and extracellular matrix in vivo have been elucidated; one of the less investigated SLRPs is asporin. Here we describe the successful generation of an Aspn-/- mouse model and the investigation of the Aspn-/- skin phenotype. Functionally, Aspn-/- mice had an increased skin mechanical toughness, although there were no structural changes present on histology or immunohistochemistry. Electron microscopy analyses showed 7% thinner collagen fibrils in Aspn-/- mice (not statistically significant). Several matrix genes were upregulated, including collagens (Col1a1, Col1a2, Col3a1), matrix metalloproteinases (Mmp2, Mmp3) and lysyl oxidases (Lox, Loxl2), while lysyl hydroxylase (Plod2) was downregulated. Intriguingly no differences were observed in collagen protein content or in collagen cross-linking-related lysine oxidation or hydroxylation. The glycosaminoglycan content and structure in Aspn-/- skin was profoundly altered: chondroitin/dermatan sulfate was more than doubled and had an altered composition, while heparan sulfate was halved and had a decreased sulfation. Also, decorin and biglycan were doubled in Aspn-/- skin. Overall, asporin deficiency changes skin glycosaminoglycan composition, and decorin and biglycan content, which may explain the changes in skin mechanical properties.
[Mh] Termos MeSH primário: Biglicano/genética
Decorina/genética
Proteínas da Matriz Extracelular/deficiência
Efeito Fundador
Regulação da Expressão Gênica
Pele/metabolismo
[Mh] Termos MeSH secundário: Aminoácido Oxirredutases/genética
Aminoácido Oxirredutases/metabolismo
Animais
Biglicano/metabolismo
Sulfatos de Condroitina/genética
Sulfatos de Condroitina/metabolismo
Colágeno Tipo I/genética
Colágeno Tipo I/metabolismo
Colágeno Tipo III/genética
Colágeno Tipo III/metabolismo
Decorina/metabolismo
Dermatan Sulfato/análogos & derivados
Dermatan Sulfato/genética
Dermatan Sulfato/metabolismo
Matriz Extracelular/genética
Matriz Extracelular/metabolismo
Proteínas da Matriz Extracelular/genética
Feminino
Heparitina Sulfato/genética
Heparitina Sulfato/metabolismo
Sulfato de Ceratano/genética
Sulfato de Ceratano/metabolismo
Masculino
Metaloproteinase 2 da Matriz/genética
Metaloproteinase 2 da Matriz/metabolismo
Metaloproteinase 3 da Matriz/genética
Metaloproteinase 3 da Matriz/metabolismo
Camundongos
Camundongos Knockout
Fenótipo
Pró-Colágeno-Lisina 2-Oxoglutarato 5-Dioxigenase/genética
Pró-Colágeno-Lisina 2-Oxoglutarato 5-Dioxigenase/metabolismo
Pele/ultraestrutura
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Aspn protein, mouse); 0 (Biglycan); 0 (COL3A1 protein, mouse); 0 (Col1a2 protein, mouse); 0 (Collagen Type I); 0 (Collagen Type III); 0 (Dcn protein, mouse); 0 (Decorin); 0 (Extracellular Matrix Proteins); 0 (collagen type I, alpha 1 chain); 0 (dermatan sulfate chondroitin sulfate); 24967-94-0 (Dermatan Sulfate); 9007-28-7 (Chondroitin Sulfates); 9050-30-0 (Heparitin Sulfate); 9056-36-4 (Keratan Sulfate); EC 1.14.11.4 (Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase); EC 1.14.11.4 (lysyl hydroxylase 2, mouse); EC 1.4.- (Amino Acid Oxidoreductases); EC 1.4.3.- (Loxl2 protein, mouse); EC 3.4.24.17 (Matrix Metalloproteinase 3); EC 3.4.24.17 (Mmp3 protein, mouse); EC 3.4.24.24 (Matrix Metalloproteinase 2); EC 3.4.24.24 (Mmp2 protein, mouse)
[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:170901
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0184028


  5 / 2609 MEDLINE  
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[PMID]:28720088
[Au] Autor:Winbo A; Stattin EL; Westin IM; Norberg A; Persson J; Jensen SM; Rydberg A
[Ad] Endereço:Department of Clinical Sciences, Pediatrics, Umeå University, 90187, Umeå, Sweden. annika.winbo@umu.se.
[Ti] Título:Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.
[So] Source:BMC Med Genet;18(1):74, 2017 Jul 18.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen among carriers of identical pathogenic sequence variants. Here we assess three non-coding NOS1AP sequence variants, chosen for their previously reported strong association with QTc in normal and LQTS populations, for association with QTc in two Swedish LQT1 founder populations. METHODS: This study included 312 individuals (58% females) from two LQT1 founder populations, whereof 227 genotype positive segregating either Y111C (n = 148) or R518* (n = 79) pathogenic sequence variants in the KCNQ1 gene, and 85 genotype negatives. All were genotyped for NOS1AP sequence variants rs12143842, rs16847548 and rs4657139, and tested for association with QTc length (effect size presented as mean difference between derived and wildtype, in ms), using a pedigree-based measured genotype association analysis. Mean QTc was obtained by repeated manual measurement (preferably in lead II) by one observer using coded 50 mm/s standard 12-lead ECGs. RESULTS: A substantial variance in mean QTc was seen in genotype positives 476 ± 36 ms (Y111C 483 ± 34 ms; R518* 462 ± 34 ms) and genotype negatives 433 ± 24 ms. Female sex was significantly associated with QTc prolongation in all genotype groups (p < 0.001). In a multivariable analysis including the entire study population and adjusted for KCNQ1 genotype, sex and age, NOS1AP sequence variants rs12143842 and rs16847548 (but not rs4657139) were significantly associated with QT prolongation, +18 ms (p = 0.0007) and +17 ms (p = 0.006), respectively. Significant sex-interactions were detected for both sequent variants (interaction term r = 0.892, p < 0.001 and r = 0.944, p < 0.001, respectively). Notably, across the genotype groups, when stratified by sex neither rs12143842 nor rs16847548 were significantly associated with QTc in females (both p = 0.16) while in males, a prolongation of +19 ms and +8 ms (p = 0.002 and p = 0.02) was seen in multivariable analysis, explaining up to 23% of QTc variance in all males. CONCLUSIONS: Sex was identified as a moderator of the association between NOS1AP sequence variants and QTc in two LQT1 founder populations. This finding may contribute to QTc sex differences and affect the usefulness of NOS1AP as a marker for clinical risk stratification in LQTS.
[Mh] Termos MeSH primário: Proteínas Adaptadoras de Transdução de Sinal/genética
Síndrome do QT Longo/genética
Caracteres Sexuais
[Mh] Termos MeSH secundário: Adulto
Feminino
Efeito Fundador
Estudos de Associação Genética
Variação Genética
Genótipo
Seres Humanos
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (NOS1AP protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170720
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0435-2


  6 / 2609 MEDLINE  
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[PMID]:28714977
[Au] Autor:Nakatsuka N; Moorjani P; Rai N; Sarkar B; Tandon A; Patterson N; Bhavani GS; Girisha KM; Mustak MS; Srinivasan S; Kaushik A; Vahab SA; Jagadeesh SM; Satyamoorthy K; Singh L; Reich D; Thangaraj K
[Ad] Endereço:Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
[Ti] Título:The promise of discovering population-specific disease-associated genes in South Asia.
[So] Source:Nat Genet;49(9):1403-1407, 2017 Sep.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The more than 1.5 billion people who live in South Asia are correctly viewed not as a single large population but as many small endogamous groups. We assembled genome-wide data from over 2,800 individuals from over 260 distinct South Asian groups. We identified 81 unique groups, 14 of which had estimated census sizes of more than 1 million, that descend from founder events more extreme than those in Ashkenazi Jews and Finns, both of which have high rates of recessive disease due to founder events. We identified multiple examples of recessive diseases in South Asia that are the result of such founder events. This study highlights an underappreciated opportunity for decreasing disease burden among South Asians through discovery of and testing for recessive disease-associated genes.
[Mh] Termos MeSH primário: Doença/genética
Efeito Fundador
Predisposição Genética para Doença/genética
Genética Populacional/métodos
[Mh] Termos MeSH secundário: Algoritmos
Ásia
Grupo com Ancestrais do Continente Asiático/genética
Doença/classificação
Frequência do Gene
Genes Recessivos/genética
Predisposição Genética para Doença/etnologia
Estudo de Associação Genômica Ampla
Genótipo
Geografia
Haplótipos
Seres Humanos
Modelos Genéticos
Polimorfismo de Nucleotídeo Único
Análise de Componente Principal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3917


  7 / 2609 MEDLINE  
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[PMID]:28697167
[Au] Autor:Newman LA; Luter MA; Davis DB; Abdul-Rahman OA; Johnson JM; Megason GC
[Ad] Endereço:*Department of Pediatrics, University of Mississippi Medical Center, Jackson †Choctaw Health Center, Philadelphia, MS.
[Ti] Título:Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians.
[So] Source:J Pediatr Hematol Oncol;39(7):573-575, 2017 Oct.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Congenital amegakaryocytic thrombocytopenia is a rare disorder causing thrombocytopenia that progresses to pancytopenia and bone marrow failure if untreated. It is caused by variants in the MPL gene which encodes the thrombopoeitin receptor. In this report, we review 5 cases of congenital amegakaryocytic thrombocytopenia, all of whom belong to the Mississippi Band of Choctaw Indians. There are 2 common variants in these cases: R90X and R537W. One variant was previously reported only once and had unclear significance at that time. With these variants identified, we hope to improve screening that results in earlier diagnosis in the Choctaw population in the future.
[Mh] Termos MeSH primário: Índios Norte-Americanos/genética
Trombocitopenia/genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Feminino
Efeito Fundador
Variação Genética
Seres Humanos
Recém-Nascido
Masculino
Mississippi
Receptores de Trombopoetina/genética
Trombocitopenia/etnologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Thrombopoietin)
[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:170712
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000904


  8 / 2609 MEDLINE  
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[PMID]:28645082
[Au] Autor:Wesselink M; Desmyter S; Kuiper I
[Ad] Endereço:Netherlands Forensic Institute, P.O. Box 24044, 2490 AA, The Hague, The Netherlands; Institute for Biodiversity and Ecosystem Dynamics, University of Amsterdam, P.O. Box 94248, 1090 GE, Amsterdam, The Netherlands. Electronic address: M.wesselink@nfi.minvenj.nl.
[Ti] Título:Local populations and inaccuracies: Determining the relevant mitochondrial haplotype distributions for North West European cats.
[So] Source:Forensic Sci Int Genet;30:71-80, 2017 Sep.
[Is] ISSN:1878-0326
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Typing of different portions of the feline mitochondrial control region has illustrated pronounced differences in haplotype distributions between cats from the Netherlands and other parts of the world. To gain a better understanding of the haplotype distribution of North West Continental Europe, 605bp of mitochondrial DNA was typed from randomly selected cats from the Netherlands (N=146), Belgium (N=64) and South West Germany (N=128). The genetic differences between these randomly sampled European populations correlate to the geographical distances, with the Dutch and the South West German populations furthest apart and the Belgian population as an intermediate (Fst values 0.01-0.03). Comparison of North West European mainland distributions to published feline mitochondrial haplotype distributions illustrated moderate to large genetic differentiation (Fst values 0.01-0.32). In this comparison, the correlation between geographical and genetic distance was absent, leading to founder effects and human impact on cat population structure and dispersion being considered as important parameters. When an accurate estimation of feline haplotype distribution is required in forensics, care should be taken when deciding whether extrapolating the frequency data from a certain source to a larger area (country/continent) is justified or whether additional typing of local populations is necessary. This may differ from case to case as local frequencies can be relevant, but can also be deceitful. To improve the applicability of forensic feline mitochondrial DNA studies, documentation and publishing of sampling strategies is advised, as is the implementation of measures to help eliminate potentially erroneous haplotypes.
[Mh] Termos MeSH primário: Gatos/genética
DNA Mitocondrial/genética
Haplótipos
[Mh] Termos MeSH secundário: Animais
Europa (Continente)
Efeito Fundador
Variação Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170624
[St] Status:MEDLINE


  9 / 2609 MEDLINE  
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[PMID]:28636882
[Au] Autor:Radha Rama Devi A; Panday NN; Naushad SM
[Ad] Endereço:Sandor Life Sciences Pvt Ltd., Banjara Hills, Road No: 3, Hyderabad 500034, India. Electronic address: radharamadevi@sandor.co.in.
[Ti] Título:FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis.
[So] Source:Gene;627:222-225, 2017 Sep 05.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community. Out of the two affected children, only one was alive during the genetic evaluation and had all the clinical manifestations such as alopecia totalis and nail dystrophy. The proband was homozygous for FOXN1 p.R255X Italian founder mutation. The carrier status of both the parents was established. Immunological study of the proband revealed total absence of T-cells confirming T-cell immunodeficiency. Prenatal diagnosis during third pregnancy revealed absence of FOXN1 mutation. To conclude, this is the first report of FOXN1 mutation from India highlighting that diseases once confined to certain geographical areas are spreading across the globe probably due to human migrations.
[Mh] Termos MeSH primário: Fatores de Transcrição Forkhead/genética
Mutação
Imunodeficiência Combinada Severa/genética
[Mh] Termos MeSH secundário: Feminino
Efeito Fundador
Testes Genéticos/métodos
Homozigoto
Seres Humanos
Índia
Recém-Nascido
Diagnóstico Pré-Natal/métodos
Imunodeficiência Combinada Severa/diagnóstico
Linfócitos T/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Forkhead Transcription Factors); 0 (Whn protein)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE


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[PMID]:28582446
[Au] Autor:Fantauzzo KA; Soriano P
[Ad] Endereço:Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
[Ti] Título:Generation of an immortalized mouse embryonic palatal mesenchyme cell line.
[So] Source:PLoS One;12(6):e0179078, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Palatogenesis is a complex morphogenetic process, disruptions in which result in highly prevalent birth defects in humans. In recent decades, the use of model systems such as genetically-modified mice, mouse palatal organ cultures and primary mouse embryonic palatal mesenchyme (MEPM) cultures has provided significant insight into the molecular and cellular defects underlying cleft palate. However, drawbacks in each of these systems have prevented high-throughput, large-scale studies of palatogenesis in vitro. Here, we report the generation of an immortalized MEPM cell line that maintains the morphology, migration ability, transcript expression and responsiveness to exogenous growth factors of primary MEPM cells, with increased proliferative potential over primary cultures. The immortalization method described in this study will facilitate the generation of palatal mesenchyme cells with an unlimited capacity for expansion from a single genetically-modified mouse embryo and enable mechanistic studies of palatogenesis that have not been possible using primary culture.
[Mh] Termos MeSH primário: Fissura Palatina/patologia
Efeito Fundador
Células Mesenquimais Estromais/patologia
Morfogênese/genética
Palato/patologia
[Mh] Termos MeSH secundário: Fosfatase Alcalina/genética
Fosfatase Alcalina/metabolismo
Animais
Linhagem Celular Transformada
Movimento Celular
Fissura Palatina/genética
Fissura Palatina/metabolismo
Inibidor p16 de Quinase Dependente de Ciclina/deficiência
Inibidor p16 de Quinase Dependente de Ciclina/genética
Embrião de Mamíferos
Regulação da Expressão Gênica no Desenvolvimento
Proteínas de Homeodomínio/genética
Proteínas de Homeodomínio/metabolismo
Seres Humanos
Antígeno Ki-67/genética
Antígeno Ki-67/metabolismo
Células Mesenquimais Estromais/metabolismo
Camundongos
Camundongos Transgênicos
Palato/metabolismo
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Proteínas com Domínio T-Box/genética
Proteínas com Domínio T-Box/metabolismo
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cdkn2a protein, mouse); 0 (Cyclin-Dependent Kinase Inhibitor p16); 0 (Homeodomain Proteins); 0 (Ki-67 Antigen); 0 (Meox2 protein, mouse); 0 (Mki67 protein, mouse); 0 (RNA, Messenger); 0 (T-Box Domain Proteins); 0 (Tbx22 protein, mouse); 0 (Transcription Factors); EC 3.1.3.1 (Alkaline Phosphatase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170606
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0179078



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