Articles with "breakpoint" as a keyword



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New Evidence of Breakpoint Forced Long Waves: Laboratory, Numerical, and Field Observations

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Published in 2018 at "Journal of Geophysical Research"

DOI: 10.1002/2017jc013621

Abstract: Numerical modeling and analysis of laboratory and field data are combined to show new evidence of breakpoint forced long waves. The laboratory data and numerical modeling show that the breakpoint can oscillate at frequencies not… read more here.

Keywords: new evidence; breakpoint; breakpoint forced; field ... See more keywords
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Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A

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Published in 2020 at "Human Mutation"

DOI: 10.1002/humu.23977

Abstract: Hemophilia A (HA) provides excellent models to analyze genotype–phenotype relationships and mutational mechanisms. NhF8ld's breakpoints were characterized using case‐specific DNA‐tags, direct‐ or inverse‐polymerase chain reaction amplification, and Sanger sequencing. DNA‐break's stimulators (n = 46), interspersed repeats, non‐B‐DNA,… read more here.

Keywords: phenotype; breakpoint; severe phenotype; molecular insights ... See more keywords
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Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern

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Published in 2020 at "Human Mutation"

DOI: 10.1002/humu.24108

Abstract: Chromosomal triplications can be classified into recurrent and nonrecurrent triplications. Most of the nonrecurrent triplications are embedded in duplicated segments, and duplication‐inverted triplication–duplication (DUP–TRP/INV‐DUP) has been established as one of the mechanisms of triplication. This… read more here.

Keywords: dup; breakpoint; analysis; trp ... See more keywords
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Beyond the breakpoint: reinstatement, renewal, and resurgence of ratio-strained behavior.

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Published in 2018 at "Journal of the experimental analysis of behavior"

DOI: 10.1002/jeab.433

Abstract: Three experiments were conducted using pigeons to assess the recurrence of responding eliminated by increasing the value of a progressive-ratio schedule to the breakpoint of responding. The procedures used in these assessments were, in successive… read more here.

Keywords: renewal resurgence; breakpoint; ratio; reinstatement renewal ... See more keywords
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Reliability and validity of a transdiagnostic measure of reward valuation effort.

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Published in 2022 at "Psychological assessment"

DOI: 10.1037/pas0001107

Abstract: To identify biobehavioral mechanisms underlying excessive reward consumption, reward valuation-effort (RV-E) assessments should (a) parallel measures in basic science to permit translation from preclinical to clinical studies; (b) quantify constructs dimensionally from healthy to disease… read more here.

Keywords: reward valuation; task; reliability; breakpoint ... See more keywords
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Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome

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Published in 2019 at "Journal of Human Genetics"

DOI: 10.1038/s10038-019-0596-2

Abstract: Prader–Willi syndrome (PWS) is a well-known imprinting disorder arising from a loss of paternally imprinted gene(s) at 15q11.2–q13. We report a typical PWS patient with a balanced reciprocal translocation, 46, XY, t(15;19)(q11.2;q13.3). After Illumina whole-genome… read more here.

Keywords: breakpoint; willi syndrome; prader willi; gene ... See more keywords
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Human MLL/KMT2A gene exhibits a second breakpoint cluster region for recurrent MLL–USP2 fusions

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Published in 2019 at "Leukemia"

DOI: 10.1038/s41375-019-0451-7

Abstract: For nearly 3 decades, the human MLL (KMT2A) gene and its rearrangements have been investigated in many different laboratories around the world. At our diagnostic center (DCAL Frankfurt), our standard strategy for the identification of… read more here.

Keywords: bcr; breakpoint; mll usp2; gene ... See more keywords
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F38. WINTER-LIKE PHOTOPERIOD GESTATION DELETERIOUSLY AFFECT EXPERIENTIAL- BUT NOT EXPRESSIVE-RELATED BEHAVIORS, WHILE ADULT PHENCYCLIDINE TREATMENT INCREASES EXPERIENTIAL BEHAVIORS: RELEVANCE TO SCHIZOPHRENIA

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Published in 2018 at "Schizophrenia Bulletin"

DOI: 10.1093/schbul/sby017.569

Abstract: Abstract Background Patients with schizophrenia exhibit negative symptoms that predict functional outcome. Understanding the mechanisms underlying these symptoms are important for developing novel therapeutic treatments. These negative symptoms can be grouped into experiential- (motivational) or… read more here.

Keywords: schizophrenia; gestation; breakpoint; treatment ... See more keywords
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Association between chromosome 22q11.2 translocation and male oligozoospermia

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Published in 2022 at "Medicine"

DOI: 10.1097/md.0000000000030790

Abstract: Chromosomal aberrations in peripheral blood are a major cause of reproductive disorders for the infertile couples. Reciprocal translocation is closely related to male infertility. The breakpoint of translocation may disrupt or dysregulate important genes related… read more here.

Keywords: chromosome 22q11; translocation; 22q11 translocation; breakpoint ... See more keywords
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Variation and diversity of the breakpoint sequences on 4AL for the 4AL/5AL translocation in Triticum.

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Published in 2018 at "Genome"

DOI: 10.1139/gen-2018-0060

Abstract: The translocation of 4AL/5AL in Triticum, which occurred before the differentiation of T. urartu and einkorn, is an important chromosomal rearrangement. Recently, the first identification of breakpoint sequence on 4AL for this translocation provides the… read more here.

Keywords: variation diversity; breakpoint; triticum; translocation ... See more keywords
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Clinical Impact of Revised Ciprofloxacin Breakpoint in Patients with Urinary Tract Infections by Enterobacteriaceae

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Published in 2021 at "Antibiotics"

DOI: 10.3390/antibiotics10040469

Abstract: In 2018, the Clinical and Laboratory Standards Institute (CLSI) revised ciprofloxacin (CIP)-susceptible breakpoint for Enterobacteriaceae from ≤1 μg/mL to ≤0.25 μg/mL, based on pharmacokinetic-pharmacodynamic (PK-PD) analysis. However, clinical data supporting the lowered CIP breakpoint are… read more here.

Keywords: urinary tract; breakpoint; cip susceptible; revised ciprofloxacin ... See more keywords