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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene c...

Sousa, SB; Jenkins, D; Chanudet, E; Tasseva, G; Ishida, M; Anderson, G; Docker, J; Ryten, M; Sá, J; Saraiva, JM; Barnicoat, A; Scott, R; Calder, A

Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two...


Genomics and X-ray microanalysis indicate that Ca2+ and thiols mediate the aggr...

Leite,B.; Ishida,M.L.; Alves,E.; Carrer,H.; Pascholati,S.F.; Kitajima,E.W.

The availability of the genome sequence of the bacterial plant pathogen Xylella fastidiosa, the causal agent of citrus variegated chlorosis, is accelerating important investigations concerning its pathogenicity. Plant vessel occlusion is critical for symptom development. The objective of the present study was to search for information that would help to explain the adhesion of X. fastidiosa cells to the xylem. ...

Data: 2002   |   Origem: OASIS br

Identification and characterization of the two-component NtrY/NtrX regulatory s...

Ishida,M.L.; Assumpção,M.C.; Machado,H.B.; Benelli,E.M.; Souza,E.M.; Pedrosa,F.O.

Two Azospirillum brasilense open reading frames (ORFs) exhibited homology with the two-component NtrY/NtrX regulatory system from Azorhizobium caulinodans. These A. brasilense ORFs, located downstream to the nifR3ntrBC operon, were isolated, sequenced and characterized. The present study suggests that ORF1 and ORF2 correspond to the A. brasilense ntrY and ntrX genes, respectively. The amino acid sequences of A....

Data: 2002   |   Origem: OASIS br

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    Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência Programa Operacional da Sociedade do Conhecimento União Europeia