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Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela
Non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530) is among the most common of major birth defects. Homozygosity for a nonsense mutation of PVRL1, W185X, results in an autosomalExpand
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Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive. Approximately 70% of CL/P cases are non-syndromic (MIMExpand
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Common Defects of ABCG2, a High-Capacity Urate Exporter, Cause Gout: A Function-Based Genetic Analysis in a Japanese Population
Dysfunctional genotype combinations of polymorphic adenosine 5′-triphosphate–binding cassette transporter gene ABCG2/BCRP, which encodes a high-capacity urate secretion transporter in human gut andExpand
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Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, bleeding tendency, and progressive neurological dysfunction.Expand
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Isolation of a Hop-Sensitive Variant of Lactobacillus lindneri and Identification of Genetic Markers for Beer Spoilage Ability of Lactic Acid Bacteria
ABSTRACT We have isolated a hop-sensitive variant of the beer spoilage bacterium Lactobacillus lindneri DSM 20692. The variant lost a plasmid carrying two contiguous open reading frames (ORF s)Expand
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Biochemical characterization of horA-independent hop resistance mechanism in Lactobacillus brevis.
We isolated a strain from hop-resistant Lactobacillus hrevis ABBC45, which had lost a plasmid (pRH45) harboring a putative hop resistance gene, horA. The hop resistance level of this horA-deficientExpand
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horC confers beer‐spoilage ability on hop‐sensitive Lactobacillus brevis ABBC45cc
Aims:  To determine whether horC confers beer‐spoilage ability and to evaluate the validity of horC as a trans‐species genetic marker for differentiating the beer‐spoilage ability of lactic acidExpand
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Development of detection medium for hard‐to‐culture beer‐spoilage lactic acid bacteria
Aims: To develop a detection medium for hard‐to‐culture beer‐spoilage lactic acid bacteria (LAB).
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Lactobacillus paracollinoides sp. nov., isolated from brewery environments.
Three novel strains isolated from brewery environments are described. These strains were Gram-positive, facultatively anaerobic, heterofermentative rods that did not exhibit catalase activity.Expand
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Genetic marker for differentiating beer‐spoilage ability of Lactobacillus paracollinoides strains
Aims:  To determine whether the beer‐spoilage ability is an intrinsic character of Lactobacillus paracollinoides and identify a genetic marker for differentiating the beer‐spoilage ability of strainsExpand
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