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1.
J Genet Couns ; 2023 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-37537905

RESUMO

Diabetes mellitus is a group of diseases characterized by hyperglycemia and its consequences, affecting over 34 million individuals in the United States and 422 million worldwide. While most diabetes is polygenic and is classified as type 1 (T1D), type 2 (T2D), or gestational diabetes (GDM), at least 0.4% of all diabetes is monogenic in nature. Correct diagnosis of monogenic diabetes has important implications for glycemic management and genetic counseling. We provide this Practice Resource to familiarize the genetic counseling community with (1) the existence of monogenic diabetes, (2) how it differs from more common polygenic/complex diabetes types, (3) the advantage of a correct diagnosis, and (4) guidance for identifying, counseling, and testing patients and families with suspected monogenic diabetes. This document is intended for genetic counselors and other healthcare professionals providing clinical services in any setting, with the goal of maximizing the likelihood of a correct diagnosis of monogenic diabetes and access to related care.

2.
Nat Commun ; 9(1): 4290, 2018 10 16.
Artigo em Inglês | MEDLINE | ID: mdl-30327472

RESUMO

Early circadian studies in plants by de Mairan and de Candolle alluded to a regulation of circadian clocks by humidity. However, this regulation has not been described in detail, nor has its influence on physiology been demonstrated. Here we report that, under constant light, circadian humidity oscillation can entrain the plant circadian clock to a period of 24 h probably through the induction of clock genes such as CIRCADIAN CLOCK ASSOCIATED 1. Under simulated natural light and humidity cycles, humidity oscillation increases the amplitude of the circadian clock and further improves plant fitness-related traits. In addition, humidity oscillation enhances effector-triggered immunity at night possibly to counter increased pathogen virulence under high humidity. These results indicate that the humidity oscillation regulates specific circadian outputs besides those co-regulated with the light-dark cycle.


Assuntos
Arabidopsis/fisiologia , Relógios Circadianos/fisiologia , Umidade , Arabidopsis/microbiologia , Proteínas de Arabidopsis/genética , Proteínas de Ligação a DNA/genética , Regulação da Expressão Gênica de Plantas , Mutação , Fotoperíodo , Imunidade Vegetal , Plantas Geneticamente Modificadas , Proteínas Repressoras/genética , Fatores de Transcrição/genética
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