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Hum Mutat 2020 Nov 9;41(11):1833-1847. Epub 2020 Sep 9.

Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.

There have been concerted efforts toward cataloging rare and deleterious variants in different world populations using high-throughput genotyping and sequencing-based methods. The Indian population is underrepresented or its information with respect to clinically relevant variants is sparse in public data sets. The aim of this study was to estimate the burden of monogenic disease-causing variants in Indian populations. Read More

Am J Physiol Lung Cell Mol Physiol 2020 08 17;319(2):L360-L368. Epub 2020 Jun 17.

Genomics and Molecular Medicine, Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology, Delhi, India.

Hypobaric hypoxia poses stress to sojourners traveling to high-altitude. A cascade of physiological changes occurs to cope with or adapt to hypobaric hypoxia. However, an insufficient physiological response to the hypoxic condition resulting from imbalanced vascular homeostasis pathways results in high-altitude pulmonary edema (HAPE). Read More

Am J Hum Biol 2020 Jul 3:e23457. Epub 2020 Jul 3.

Department of Anthropology, University of Central Florida, Orlando, Florida, USA.

Objectives: The aim of this study was to investigate how much variation in adult stature and body mass can be explained by growth disruption among soldiers who served in Napoleon's Grand Army during the Russian Campaign of 1812.

Methods: Linear enamel hypoplasia (LEH) were recorded as representations of early life growth disruption, while the impact on future growth was assessed using maximum femur length (n = 73) as a proxy for stature and maximum femoral head diameter (n = 25) as a proxy for body mass. LEH frequency, severity, age at first formation, and age at last formation served as explanatory variables in a multiple regression analysis to test the effect of these variables on maximum femur length and maximum femoral head diameter. Read More

Ann Anat 2020 Nov 20;232:151546. Epub 2020 Jun 20.

Institute of Geological Sciences, Polish Academy of Sciences, Research Centre in Warszawa, Wroclaw, Poland.

Objectives: The aim of this paper is to assess linear enamel hypoplasia (LEH) on canines of adults from early modern Wroclaw cemeteries to compare δC and δO values in enamel formed before, during and after LEH formation, and to attempt to find a link between the selected indicators of the weaning process.

Material And Methods: 15 permanent canines with visible LEH were selected for analysis. Age at LEH formation was estimated using the Reid and Dean method. Read More

Chembiochem 2020 07 30;21(13):1868-1874. Epub 2020 Mar 30.

Istituto di Scienze e Tecnologie Chimiche "Giulio Natta" (SCITEC) - CNR, Via Mario Bianco, 9, 20131, Milano, Italy.

The non-hydrolytic ring opening of 1,2-epoxides in the presence of limonene epoxide hydrolases (LEHs) and different nucleophiles has been investigated. Lyophilized, wild-type LEHs were tested in selected water-saturated organic solvents in the presence of cyclohexene oxide as substrate and different alcohols, thiols and primary amines as nucleophiles. Although the LEHs retained an appreciable catalytic activity under different reaction conditions, formation of the desired 1,2-substituted cyclohexanols was not observed. Read More