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1.
Gene ; 198(1-2): 379-86, 1997 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-9370305

RESUMO

The majority of patients with DiGeorge, velocardiofacial or conotruncal anomaly facial syndromes share a common genetic etiology, deletion of chromosomal region 22q11.2. This report describes a computational approach toward the identification and molecular characterization of a newly identified serine/threonine kinase from the minimal critical deleted region (MDGCR). A cosmid contig of the minimal critical region has been assembled and sequenced in its entirety. Database searches and computer analysis of one cosmid (111f11) for coding sequences identified two regions with high similarity to the mouse serine/threonine kinase, Tsk1. Our investigations demonstrate that one of these regions contains a testis-specific gene that undergoes differential splicing, while the other region is most likely a pseudogene. Northern blot analysis and cDNA cloning demonstrate that there is alternate processing of the 3'UTR without altering the conserved kinase domains within the open reading frame. Serine/threonine kinases can play a regulatory role and have been found to be expressed during early embryogenesis. Based on its position in the MDGCR and possible function, the gene reported here is a candidate for the features seen in the 22q11 deletion syndrome.


Assuntos
Síndrome de DiGeorge/genética , Proteínas Serina-Treonina Quinases/genética , Processamento Alternativo , Sequência de Aminoácidos , Animais , Mapeamento Cromossômico , Cromossomos Humanos Par 22 , Clonagem Molecular , Cosmídeos , Humanos , Masculino , Camundongos , Dados de Sequência Molecular , Pseudogenes , RNA Mensageiro/genética , Testículo
2.
J Am Vet Med Assoc ; 211(4): 470-5, 1997 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-9267511

RESUMO

OBJECTIVE: To determine the association between intramammary infections caused by various bacteria and hepatic damage, as measured by serum sorbitol dehydrogenase (SDH) activity, WBC counts, and PCV and the association of clinical variables with milk production after a case of clinical mastitis. DESIGN: Prospective, cohort study. ANIMALS: 82 cows with clinical mastitis. PROCEDURE: Information on milk production, mastitis status, and selected physiologic variables was collected during a 1-year period. Milk samples for bacteriologic evaluation were collected on day 1 of an episode of clinical mastitis. Physical examination was performed and blood samples for laboratory evaluation were collected on days 1, 5, and 9. Primary outcome was mature equivalent 305-day (ME305) milk production. Correlations were assessed using a multiple regression model. RESULTS: Higher WBC counts were associated with higher ME305 values. For cows with coliform mastitis, increases in SDH values were associated with higher ME305 values. For cows with coliform and streptococci/staphylococci mastitis, PCV was associated with ME305 values. Higher PCV values were associated with lower ME305 values for streptococci/ staphylococci and coliform infections. CLINICAL IMPLICATIONS: The association between milk production and WBC count indicated that cows mobilizing WBC were better able to neutralize mammary gland infections, which may result in better milk production. The association between milk production and PCV suggested that maintaining hydration in cows with clinical mastitis may be a critical aspect of treating all cows with mastitis.


Assuntos
Mastite Bovina/fisiopatologia , Leite/metabolismo , Animais , Bovinos , Estudos de Coortes , Infecções por Enterobacteriaceae/sangue , Infecções por Enterobacteriaceae/fisiopatologia , Infecções por Enterobacteriaceae/veterinária , Feminino , Hematócrito/veterinária , L-Iditol 2-Desidrogenase/sangue , Lactação , Contagem de Leucócitos/veterinária , Mastite Bovina/sangue , Leite/microbiologia , Modelos Biológicos , Estudos Prospectivos , Infecções Estafilocócicas/sangue , Infecções Estafilocócicas/fisiopatologia , Infecções Estafilocócicas/veterinária , Infecções Estreptocócicas/sangue , Infecções Estreptocócicas/fisiopatologia , Infecções Estreptocócicas/veterinária
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