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1.
J Genet ; 2020 Jun; 99: 1-6
Article | IMSEAR | ID: sea-215511

RÉSUMÉ

Smith–Magenis syndrome (SMS, OMIM: 182290) is a multiple congenital anomalies and intellectual disability syndrome due to a 3.45 Mb microdeletion involving 17p11.2 and is estimated to occur about one in 25,000 births. Up to now, the ultrasound findings of the foetus with SMS and their external genital defects in patients are rarely reported. This case indicates that foetus with SMS may present polyhydramnios and ventriculomegaly in the second trimester. The newborn male patient had an abnormal phenotype in which he has micropenis and his anus is close to the perineal body. The identification of this case may further expand the phenotypic spectrum of this genetic disorder.

2.
Braz. j. microbiol ; Braz. j. microbiol;45(1): 248-254, 2014. ilus, graf, tab
Article de Anglais | LILACS | ID: lil-709468

RÉSUMÉ

The endophytic fungus strain 0248, isolated from garlic, was identified as Trichoderma brevicompactum based on morphological characteristics and the nucleotide sequences of ITS1-5.8SITS2 and tef1. The bioactive compound T2 was isolated from the culture extracts of this fungus by bioactivity-guided fractionation and identified as 4β-acetoxy-12,13-epoxy-Δ9-trichothecene (trichodermin) by spectral analysis and mass spectrometry. Trichodermin has a marked inhibitory activity on Rhizoctonia solani, with an EC50 of 0.25 µgmL-1. Strong inhibition by trichodermin was also found for Botrytis cinerea, with an EC50 of 2.02 µgmL-1. However, a relatively poor inhibitory effect was observed for trichodermin against Colletotrichum lindemuthianum (EC50 = 25.60 µgmL-1). Compared with the positive control Carbendazim, trichodermin showed a strong antifungal activity on the above phytopathogens. There is little known about endophytes from garlic. This paper studied in detail the identification of endophytic T. brevicompactum from garlic and the characterization of its active metabolite trichodermin.


Sujet(s)
Antifongiques/pharmacologie , Endophytes/composition chimique , Ail/microbiologie , Trichoderma/composition chimique , Trichodermine/pharmacologie , Antifongiques/isolement et purification , Botrytis/effets des médicaments et des substances chimiques , Analyse de regroupements , Colletotrichum/effets des médicaments et des substances chimiques , ADN fongique/composition chimique , ADN fongique/génétique , Espaceur de l'ADN ribosomique/composition chimique , Espaceur de l'ADN ribosomique/génétique , ADN ribosomique/composition chimique , ADN ribosomique/génétique , Endophytes/classification , Endophytes/isolement et purification , Spectrométrie de masse , Tests de sensibilité microbienne , Données de séquences moléculaires , Phylogenèse , Facteur-1 d'élongation de la chaîne peptidique/génétique , /génétique , Rhizoctonia/effets des médicaments et des substances chimiques , Analyse de séquence d'ADN , Trichoderma/classification , Trichoderma/isolement et purification , Trichodermine/isolement et purification
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