scholarly journals Hierarchical analysis of molecular spectra

1993 ◽  
Vol 98 (4) ◽  
pp. 2614-2641 ◽  
Author(s):  
Michael J. Davis
Keyword(s):  
Molecular Spectra ◽  
Hierarchical Analysis

Reaction of organolithium compounds with 1-substituted 2,4,6-triphenylpyridinium perchlorates

1989 ◽  
Vol 54 (7) ◽  
pp. 1880-1887 ◽  
Author(s):  
Marián Schwarz ◽  
Josef Kuthan
Keyword(s):  
Visible Range ◽  
Molecular Spectra ◽  
Organolithium Compounds ◽  
Phenylmagnesium Bromide

The reaction of organolithium compounds with 1-substituted 2,4,6-triphenylpyridinium perchlorates Ia-Ic produces mixtures of 1,4-dihydropyridines IIa-IIe and 1,2-dihydropyridines IIIa-IIIe. Analogous reactions of phenylmagnesium bromide with compounds Ia-Ic proceed with very low conversions (less than 1%). Photochromism in visible range is observed only with the compounds II which have two aromatic substituents at 4-position, whereas compounds III and IId show no visible photochromism. The molecular spectra of the compounds newly prepared are discussed.

scholarly journals Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

2021 ◽  
Vol 22 (15) ◽  
pp. 8247
Author(s):  
Cheng-Tsung Hsiao ◽  
Thomas F. Tropea ◽  
Ssu-Ju Fu ◽  
Tanya M. Bardakjian ◽  
Pedro Gonzalez-Alegre ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Iron Accumulation ◽  
Molecular Spectra ◽  
Loss Of Function ◽  
Brain Iron ◽  
Gain Of Function ◽  
Progressive Cerebellar Ataxia ◽  
Voltage Dependent ◽  
Window Current

Loss-of-function mutations in the KV4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated with iron deposition may also present with cerebellar ataxia. The mechanism underlying brain iron accumulation remains unclear. Here, we aim to ascertain the potential pathogenic role of KCND3 variant in iron accumulation-related cerebellar ataxia. We presented a patient with slowly progressive cerebellar ataxia, parkinsonism, cognitive impairment, and iron accumulation in the basal ganglia and the cerebellum. Whole exome sequencing analyses identified in the patient a heterozygous KCND3 c.1256G>A (p.R419H) variant predicted to be disease-causing by multiple bioinformatic analyses. In vitro biochemical and immunofluorescence examinations revealed that, compared to the human KV4.3 wild-type channel, the p.R419H variant exhibited normal protein abundance and subcellular localization pattern. Electrophysiological investigation, however, demonstrated that the KV4.3 p.R419H variant was associated with a dominant increase in potassium current amplitudes, as well as notable changes in voltage-dependent gating properties leading to enhanced potassium window current. These observations indicate that, in direct contrast with the loss-of-function KCND3 mutations previously reported in cerebellar ataxia patients, we identified a rare gain-of-function KCND3 variant that may expand the clinical and molecular spectra of neurodegenerative cerebellar disorders associated with brain iron accumulation.

scholarly journals Hierarchical Analysis of Nucleotide Diversity in Geographically Structured Populations

Genetics ◽  
1996 ◽  
Vol 142 (2) ◽  
pp. 629-639 ◽  
Author(s):  
Kent E Holsinger ◽  
Roberta J Mason-Gamer
Keyword(s):  
Nucleotide Diversity ◽  
Restriction Site ◽  
Rooted Tree ◽  
Structured Populations ◽  
Hierarchical Analysis ◽  
Restriction Site Variation ◽  
Hierarchical Levels ◽  
Site Variation ◽  
The Mean ◽  
Mean Time

Abstract Existing methods for analyzing nucleotide diversity require investigators to identify relevant hierarchical levels before beginning the analysis. We describe a method that partitions diversity into hierarchical components while allowing any structure present in the data to emerge naturally. We present an unbiased version of Nei's nucleotide diversity statistics and show that our modification has the same properties as Wright's  F  ST. We compare its statistical properties with several other F  ST estimators, and we describe how to use these statistics to produce a rooted tree of relationships among the sampled populations in which the mean time to coalescence of haplotypes drawn from populations belonging to the same node is smaller than the mean time to coalescence of haplotypes drawn from populations belonging to different nodes. We illustrate the method by applying it to data from a recent survey of restriction site variation in the chloroplast genome of Coreopsis grandiflora.

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