Results 11 to 20 of about 256,431 (337)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Relative Leg Length as a Risk Factor for Hypertension and Diabetes in Egyptian Adults [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2018
Introduction: Studies from developed societies have shown that individuals with short legs relative to height have higher risk of association with the components of the metabolic syndrome such as glucose intolerance, insulin resistance and hypertension ...
Azza Sarry El-Din   +3 more
doaj   +1 more source

Prevalence of hypertension among individuals with diabetes and its determinants: evidences from the National Family Health Survey 2015–16, India

open access: yesAnnals of Human Biology, 2022
Background The incidence of diabetes mellitus (DM) has escalated in recent decades, and the risk of diabetes-related mortality has increased dramatically due to the co-existence of hypertension (HTN).
Arpita Santra, Akash Mallick
doaj   +1 more source

The association between sarcopenia susceptibility and polymorphisms of FTO, ACVR2B, and IRS1 in Tibetans

open access: yesMolecular Genetics & Genomic Medicine, 2021
Background Hypoxia within the plateau has a negative effect on skeletal muscle and may play a role in the development of sarcopenia in humans. Tibetans having lived in the Qinghai‐Tibet Plateau for thousands of years, are a high‐risk group for sarcopenia;
Xianpeng Zhang   +6 more
doaj   +1 more source

Intragroup analysis of new craniometric data from the ancient Panjakent nauses [PDF]

open access: yesВестник археологии, антропологии и этнографии, 2022
The article discusses new cranial materials excavated at the ancient Panjakent necropolis in 2003–2004. The crania were found in ossuary burials in nauses (small separate crypts) dating from the late VII to the early VIII centuries AD.
Kufterin V.V.   +2 more
doaj   +1 more source

The case of Heinrich Wilhelm Poll (1877-1939): A German-Jewish geneticist, eugenicist, twin researcher, and victim of the Nazis [PDF]

open access: yes, 2006
This paper uses a reconstruction of the life and career of Heinrich Poll as a window into developments and professional relationships in the biological sciences in Germany in the period from the beginning of the twentieth century to the Nazi seizure of ...
Braund, James, Sutton, Douglas G.
core   +1 more source

Association of some dietary ingredients, vitamin D, estrogen, and obesity polymorphic receptor genes with bone mineral density in a sample of obese Egyptian women

open access: yesJournal of Genetic Engineering and Biotechnology, 2021
Background Although many environmental factors play an important role in bone mass density (BMD) variation, genetic influences account for 60–85% of individual variance.
Nayera E. Hassan   +9 more
doaj   +1 more source

Quantitative trait loci at the 11q23.3 chromosomal region related to dyslipidemia in the population of Andhra Pradesh, India

open access: yesLipids in Health and Disease, 2017
Background Given the characteristic atherogenic dyslipidemia of south Indian population and crucial role of APOA1, APOC3, APOA4 and APOA5 genes clustered in 11q23.3 chromosomal region in regulating lipoprotein metabolism and cholesterol homeostasis, a ...
Rayabarapu Pranavchand   +1 more
doaj   +1 more source

Crania, bodies, and measurements : formation of the collection of anthropometric instruments at the Museu Nacional in the late nineteenth/early twentieth century [PDF]

open access: yes, 2008
Aborda o processo de constituição do acervo de instrumentos científicos do Setor de Antropologia Biológica (antiga Divisão de Antropologia Física) do Museu Nacional. Prioriza-se a análise da coleção de instrumentos de antropometria. Pensar o instrumental
Rodrigues-Carvalho, Claudia   +3 more
core   +1 more source

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