Diana G. Mah

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Cleft lip with or without cleft palate, CL(P), a common human birth defect, has a genetically complex etiology. An animal model with a similarly complex genetic basis is established in the A/WySn mouse strain, in which 20% of newborn have CL(P). Using a newly created congenic strain, AEJ.A, and SSLP markers, we have mapped a major CL(P)-causing gene derived(More)
Serum samples from 49 children with acute Mycoplasma pneumoniae infection were screened for the presence of antibodies to mitotic spindle apparatus. None of these serum samples showed such antibodies at a screening dilution of 1:40, though anticentriolar antibodies at titres of 1:320 were observed in two children with acute cerebellar dysfunction.(More)
The gene for Huntington disease (HD) has been localized close to the telomere on the short arm of chromosome 4. However, refined mapping using recombinant HD chromosomes has resulted in conflicting findings and mutually exclusive candidate regions. Previously reported significant nonrandom allelic association between D4S95 and HD provided support for a more(More)
A histopathological scoring system was developed to assess the pathology of acute Mycoplasma pneumoniae pulmonary infection in a hamster model. A final score per animal (ranging 0-26) is obtained by averaging scores from each lung which have been accumulated by the addition of subscores from the assessments of quantity and quality of peribronchiolar and(More)
BACKGROUND Human nonsyndromic cleft lip and palate, CL(P), is genetically complex, with one contributing gene on chromosome 17q. A potentially homologous gene, clf1 on distal chromosome 11, is part of the digenic cause of the 10-30% CL(P) in the A/WySn mouse strain. Here we report our progress toward identifying the clf1 mutation. METHODS Transcription(More)
Since its start, the Mammalian Gene Collection (MGC) has sought to provide at least one full-protein-coding sequence cDNA clone for every human and mouse gene with a RefSeq transcript, and at least 6200 rat genes. The MGC cloning effort initially relied on random expressed sequence tag screening of cDNA libraries. Here, we summarize our recent progress(More)
Complex nonadditive interactions between specific alleles at multiple loci may underlie many so-called multifactorial threshold birth defects. The open-eyelids-at-birth defect in mice is a good model for these defects, and an understanding of its genetic complexity begins with mapping the participating loci. The open-eyelids defect can be part of a syndrome(More)
Species: Mouse Locus name: cleft lip Locus symbol: clfl Map position: Centromere-Dl lMit200, 265, 199, 146-clfl, DllMit126, 10, 166, 58-DllMit258 Method o f mapping: SSLPs differing between A/WySn and AEJ/ RkBc were typed in AEJ.A/Jur congenic strain mice (NE10-12) previously proven to be clfl/+ by progeny testing. The pedigree relationships among the(More)
Univariate and multivariate analyses were applied to determine risk factors for the progression of Escherichia coli O157:H7 enteritis to hemolytic uremic syndrome (HUS). Both clinical and laboratory variables were assessed for 118 pediatric patients (28 HUS; 90 enteritis only). Verotoxins 1 and 2 were produced by 89% of E. coli strains whereas verotoxin 2(More)
To facilitate discovery of novel human embryonic stem cell (ESC) transcripts, we generated 2.5 million LongSAGE tags from 9 human ESC lines. Analysis of this data revealed that ESCs express proportionately more RNA binding proteins compared with terminally differentiated cells, and identified novel ESC transcripts, at least one of which may represent a(More)