Research Highlight |
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Review Article |
Persistent coxsackievirus B infection and pathogenesis of type 1 diabetes mellitus
This Review highlights evidence that persistent enterovirus infections, particularly coxsackievirus B, trigger and/or accelerate islet autoimmunity in susceptible individuals, thereby leading to type 1 diabetes mellitus (T1DM). The potential for vaccination or antiviral therapies to prevent T1DM onset is also considered.
- Magloire Pandoua Nekoua
- , Enagnon Kazali Alidjinou
- & Didier Hober
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Review Article |
Epigenetics of type 2 diabetes mellitus and weight change — a tool for precision medicine?
This Review discusses the role of epigenetic mechanisms in the development of type 2 diabetes mellitus and in the regulation of body weight in humans. How epigenetics might help the development of precision medicine is outlined.
- Charlotte Ling
- , Karl Bacos
- & Tina Rönn
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Review Article |
Exerkines in health, resilience and disease
Exerkines are signalling moieties that are released in response to acute and/or chronic exercise that exert their effects through endocrine, paracrine and/or autocrine pathways. This Review summarizes the importance and current state of exerkine research, prevailing challenges and future directions.
- Lisa S. Chow
- , Robert E. Gerszten
- & Michael P. Snyder
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Review Article |
Epigenetic inheritance of polycystic ovary syndrome — challenges and opportunities for treatment
Polycystic ovary syndrome (PCOS) is a common disorder of unclear aetiology. Although genetic factors contribute to PCOS, they only partially account for its heritability. Here, Stener-Victorin and Deng discuss the evidence that altered epigenetic and developmental programming influence the pathogenesis and familial transmission of PCOS.
- Elisabet Stener-Victorin
- & Qiaolin Deng
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Review Article |
Emerging therapeutic approaches for the treatment of NAFLD and type 2 diabetes mellitus
Type 2 diabetes mellitus (T2DM) and non-alcoholic fatty liver disease (NAFLD) are closely linked; effective therapeutics are lacking for both conditions, particularly NAFLD. This Review will discuss therapeutic options for NAFLD, focusing on targeting intermediary metabolism, insulin resistance and T2DM.
- Daniel Ferguson
- & Brian N. Finck
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Review Article |
The role of biomineralization in disorders of skeletal development and tooth formation
Several shared mechanisms govern the development of bone and teeth. This Review summarizes these shared pathways and discusses the disorders that are related to both bone and teeth.
- Christopher S. Kovacs
- , Catherine Chaussain
- & Rajesh V. Thakker
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Review Article |
Immune dysfunction in developmental programming of type 2 diabetes mellitus
This Review discusses the susceptibility of the fetal immune system to intrauterine growth restriction (IUGR) and the consequences on pancreatic islet development, which might influence the pathogenesis of type 2 diabetes mellitus in individuals affected by IUGR. The potential for immunomodulation as a therapeutic approach to treat IUGR-induced type 2 diabetes mellitus will also be discussed.
- Thea N. Golden
- & Rebecca A. Simmons
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Year in Review |
The importance of metabolic dysfunction in polycystic ovary syndrome
Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder characterized by reproductive and metabolic disturbances. Androgen excess is a hallmark of PCOS, driving many of the phenotypic features. In 2020, several findings highlight altered metabolic pathways as an underlying biological mechanism in PCOS. These findings add to our understanding of the complex interaction between metabolic homeostasis and reproduction.
- Jenny A. Visser
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Perspective |
The MMP14–caveolin axis and its potential relevance for lipoedema
Lipoedema is a disorder characterized by the symmetrical accumulation of mechanically compliant adipose tissue in the proximal extremities. This Perspective article proposes a new mechanism for lipoedema, in which dysfunctional caveolin 1 in adipose tissue becomes uncoupled from key feedback loops with matrix metalloproteinase 14, oestrogen receptor and prospero homeobox 1.
- Ilja L. Kruglikov
- , Nolwenn Joffin
- & Philipp E. Scherer
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Review Article |
Pathogenesis and treatment of primary aldosteronism
This Review outlines the latest understanding of the pathogenesis of primary aldosteronism. Current treatment options are also discussed, including the potential for targeted therapies.
- Maria-Christina Zennaro
- , Sheerazed Boulkroun
- & Fabio L. Fernandes-Rosa
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News & Views |
Towards subtypes — deep endometriosis oestrogen receptor-α expression
Most research treats endometriosis as a single entity, potentially obscuring informative subtype-specific associations with risk factors, biomarkers and treatment responses. A 2020 study raises the hypothesis that deep endometriosis oestrogen receptor-α expression might be associated with progestin treatment and the degree of post-surgical excision pain.
- Amy L. Shafrir
- & Stacey A. Missmer
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Review Article |
Pathogenesis of glucocorticoid-induced osteoporosis and options for treatment
High doses and long-term use of glucocorticoids lead to an important and common iatrogenic complication, glucocorticoid-induced osteoporosis. This Review outlines our current understanding of the pathogenesis of glucocorticoid-induced osteoporosis and discusses treatment options.
- Pojchong Chotiyarnwong
- & Eugene V. McCloskey
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News & Views |
A predictive CD8+ T cell phenotype for T1DM progression
In a cross-sectional study of individuals with type 1 diabetes mellitus, those who were designated to be slow disease progressors had an increased proportion of autoreactive, islet-specific CD8+ T cells expressing an ‘exhausted’ phenotype. By contrast, rapid disease progressors had increased numbers of islet-specific CD8+ T cells with a transitional memory phenotype.
- F. Susan Wong
- & Li Wen
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Review Article |
New insights into the pathogenesis and nonsurgical management of Graves orbitopathy
Graves orbitopathy has a negative impact on a patient’s quality of life. This Review provides an overview of the field and outlines the optimal management of Graves orbitopathy. The authors also highlight future research questions to direct future clinical trials.
- Peter N. Taylor
- , Lei Zhang
- & Marian Ludgate
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Review Article |
The heterogeneous pathogenesis of type 1 diabetes mellitus
Although β-cell targeted autoimmune processes and β-cell dysfunction are known to occur in type 1 diabetes mellitus, the precise aetiology and pathological mechanisms are still largely unclear. This Review explores the current knowledge on the pathogenesis of type 1 diabetes mellitus and describes expected developments in the near future.
- Jorma Ilonen
- , Johanna Lempainen
- & Riitta Veijola
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Review Article |
Turner syndrome: mechanisms and management
Turner syndrome is a rare disorder of women associated with complete or partial loss of one X chromosome. This Review presents an updated discussion of the pathogenetic mechanisms and management of Turner syndrome.
- Claus H. Gravholt
- , Mette H. Viuff
- & Niels H. Andersen
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News & Views |
Genesis, genes and epigenetics of endometriosis-associated infertility
Jae-Wook Jeong and colleagues report that histone deacetylase 3 (HDAC3) is downregulated in the endometrium of women with endometriosis. In addition, they show that the loss of HDAC3 is associated with aberrant hormonal signalling and increased fibrosis in the endometrium and impaired endometrial receptivity.
- Sun-Wei Guo
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Review Article |
Obesity: global epidemiology and pathogenesis
The prevalence of obesity has increased worldwide in the past ~50 years, reaching pandemic levels. Remarkable regional differences exist in obesity prevalence and trends, which might help to identify societal causes of obesity and provide guidance for the most promising intervention strategies.
- Matthias Blüher
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Year in Review |
Fuelling cancer cells
Cancer cells consume and utilize glucose at a higher rate than normal cells. However, some microenvironments limit the availability of nutrients and glucose. In 2018, researchers found that tumours depend on a variety of different nutrient sources, both locally and systemically, to overcome metabolic limitations and promote tumour progression and metastasis.
- Alexander R. Terry
- & Nissim Hay
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Review Article |
Melatonin in type 2 diabetes mellitus and obesity
Type 2 diabetes mellitus and obesity are major public health challenges; emerging evidence suggests that melatonin is involved in the development of these disorders, opening new avenues for research. This Review discusses the effect of melatonin and its receptors on glucose homeostasis, obesity and type 2 diabetes mellitus.
- Angeliki Karamitri
- & Ralf Jockers
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Review Article |
Exploring the extent and scope of epigenetic inheritance
Environmental factors, particularly during early life, are important for the later metabolic health of the individual. Here, Elizabeth Radford explores the extent to which epigenetic inheritance contributes to heredity and whether environmental challenges can result in epigenetic inheritance.
- Elizabeth J. Radford
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News & Views |
Quantifying genetic susceptibility in T1DM — implications for diagnosis after age 30
Treatment of type 1 diabetes mellitus (T1DM) for individuals over the age of 30 years is often delayed. A recent large-scale population analysis used a genetic risk score to define T1DM in the first six decades of life, providing specific insights applicable to those >30 years of age.
- Everett Meyer
- & David M. Maahs
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Consensus Statement
| Open AccessClinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indications, molecular diagnosis and management of the newly defined Beckwith–Wiedemann spectrum.
- Frédéric Brioude
- , Jennifer M. Kalish
- & Eamonn R. Maher