Results 141 to 150 of about 79,198 (289)

Whole genome sequencing and rare variant analysis in essential tremor families.

open access: yesPLoS ONE, 2019
Essential tremor (ET) is one of the most common movement disorders. The etiology of ET remains largely unexplained. Whole genome sequencing (WGS) is likely to be of value in understanding a large proportion of ET with Mendelian and complex disease ...
Zagaa Odgerel   +6 more
doaj   +1 more source

A STOP‐Gain RNF213 Variant Causes Chorea, Stroke‐Like Episodes, and Leigh Syndrome‐Like Encephalopathy

open access: yes
Movement Disorders, EarlyView.
Roberta Bovenzi   +8 more
wiley   +1 more source

Sex Hormones and the Risk of Nasal Polyps: A Two‐Sample Mendelian Randomization Study

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective The pathophysiological roles of sex hormones in airway inflammation have drawn much attention recently. We aimed to explore the causal effect of sex hormones on chronic rhinosinusitis (CRS) and nasal polyps (NP) via a Mendelian randomization (MR) study.
Ying Zhu   +7 more
wiley   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

open access: yesThe Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Sugarcane genetics: Underlying theory and practical application

open access: yesCrop Journal
Sugarcane is recognized as the fifth largest crop globally, supplying 80% of sugar and 40% of bioenergy production. However, sugarcane genetic research has significantly lagged behind other crops due to its complex genetic background, high ploidy (8–13×),
Hengbo Wang   +6 more
doaj   +1 more source

Pathogenesis of Vitiligo: Integrating Immune and Non‐Immune Cell Crosstalk

open access: yesThe Journal of Dermatology, EarlyView.
ABSTRACT Vitiligo is an acquired autoimmune disease characterized by depigmented macules resulting from melanocyte loss. It is a complex multifactorial disorder in which genetic predisposition is combined with environmental factors; however, its detailed etiology remains unclear.
Shintaro Inoue
wiley   +1 more source

Predicted Molecular Effects of Sequence Variants Link to System Level of Disease.

open access: yesPLoS Computational Biology, 2016
Developments in experimental and computational biology are advancing our understanding of how protein sequence variation impacts molecular protein function.
Jonas Reeb   +4 more
doaj   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3

open access: yesJournal of Forensic Sciences, EarlyView.
Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil   +3 more
wiley   +1 more source

Genetic engineering for SIT application: a fruit fly‐focused review

open access: yesInsect Science, EarlyView.
Abstract Sterile insect technique (SIT) has become a key component of efficient pest control. Fruit fly pests from the Drosophilidae and Tephritidae families pose a substantial and overwhelmingly increasing threat to the agricultural industry, aggravated by climate change and globalization among other contributors.
Serafima Davydova   +2 more
wiley   +1 more source

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