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   Articles with "sleep phenotypes" as a keyword



No bidirectional relationship between sleep phenotypes and risk of proliferative diabetic retinopathy: a two-sample Mendelian randomization study

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recommendations! Published in 2024 at "Scientific Reports"

DOI: 10.1038/s41598-024-60446-3

Abstract: This study aimed to investigate the probable existence of a causal relationship between sleep phenotypes and proliferative diabetic retinopathy (PDR). Single nucleotide polymorphisms associated with sleep phenotypes were selected as instrumental variables at the genome-wide… read more here.

Keywords: sleep duration; relationship sleep; proliferative diabetic; sleep phenotypes ... See more keywords

0777 Respiratory Sleep Phenotypes in Prader-Willi Syndrome: Does the Type of Mutation Matter?

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recommendations! Published in 2024 at "SLEEP"

DOI: 10.1093/sleep/zsae067.0777

Abstract: Prader-Willi Syndrome (PWS) is a congenital disorder with three types of mutation: deletion (DEL), maternal uniparental disomy (UPD), and imprinting center defects (IMP). Sleep breathing disorders and sleep disruption may change the clinical evolution of… read more here.

Keywords: willi syndrome; prader willi; respiratory sleep; mutation ... See more keywords

Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder

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recommendations! Published in 2024 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2023-109508

Abstract: Pogo transposable element-derived protein with ZNF domain (POGZ) gene encodes a chromatin regulator and rare variants on this gene have been associated with a broad spectrum of neurodevelopmental disorders, such as White-Sutton syndrome. Patient clinical… read more here.

Keywords: pogz associated; disorder; sleep disturbances; exploring molecular ... See more keywords

The Association Between Sleep Phenotypes and Epilepsy Genes

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recommendations! Published in 2025 at "Neurology: Genetics"

DOI: 10.1212/nxg.0000000000200269

Abstract: Objectives Sleep and epilepsy have a complex and bidirectional relationship. We aimed to uncover genetic mechanisms underlying this connection. Methods We leveraged genome-wide association studies that link sleep phenotypes and genetic loci and compared epilepsy… read more here.

Keywords: epilepsy genes; brain; genes expressed; sleep phenotypes ... See more keywords