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Mutation of a novel gene results in abnormal development of spermatid flagella, loss of intermale aggression and reduced body fat in mice.
ROSA22 male mice are sterile due to a recessive gene-trap mutation that affects development of the spermatid flagellum. The defect involves the flagellar axoneme, which becomes unstable around theExpand
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Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited
Abstract Charcot-Marie-Tooth type 4B (CMT4B), an autosomal recessive demyelinating neuropathy characterized by focally folded myelin sheaths in the peripheral nerve, has been associated withExpand
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Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma
Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6 years, the other was transplanted because of severe heart failure atExpand
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RAPID COMMUNICATION: New results on the absolute ion detection efficiencies of a microchannel plate
Absolute single-particle detection efficiencies and pulse height distributions of a cascaded microchannel plate (MCP) detector are reported for the ions , , , and in the impact energy range 0 - 4.75Expand
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Characterization of three abundant mRNAs from human ovarian granulosa cells.
Three cDNA clones, pHGR122, pHGR11, and pHGR74 containing the coding information for abundant mRNAs were identified from a human ovarian granulosa cell cDNA library. Characterization by nucleotideExpand
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Inhibition of cGMP-dependent protein kinase II by its own splice isoform.
cGMP- and cAMP-dependent protein kinases (cGK I, cGK II, and cAK) are important mediators of many signaling pathways that increase cyclic nucleotide concentrations and ultimately phosphorylation ofExpand
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FZD3 is not a risk gene for schizophrenia: a case-control study in a Caucasian sample.
BACKGROUND Polymorphisms in the human frizzeled-3 (FZD3) gene have been associated with schizophrenia in an Asian population sample. However, this finding could not be confirmed in subsequent studiesExpand
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Peutz-Jeghers syndrome is caused by mutations in a novel serine threoninekinase
Peutz-Jeghers (PJ) syndrome is an autosomal-dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for variousExpand
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Positive association to IgE levels and a physical map of the 13q14 atopy locus
Linkage of atopy and associated traits to a locus on chromosome 13q14 has been identified by several studies in diverse populations. We have previously shown the putative atopy gene to be containedExpand
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Functional variants of TSPAN8 are associated with bipolar disorder and schizophrenia
Tetraspanins affect protein trafficking and are known to influence a wide variety of physiologic processes. Recently, single nucleotide polymorphisms (SNPs) of the tetraspanin gene TSPAN8 were foundExpand
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