scholarly journals Functional characterization of novel NR5A1  variants reveals multiple complex roles in disorders of sex development

2017 ◽  
Vol 39 (1) ◽  
pp. 124-139 ◽  
Author(s):  
Gorjana Robevska ◽  
Jocelyn A. van den Bergen ◽  
Thomas Ohnesorg ◽  
Stefanie Eggers ◽  
Chloe Hanna ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Disorders Of Sex Development ◽  
Sex Development

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

2017 ◽  
Vol 39 (1) ◽  
pp. 114-123 ◽  
Author(s):  
Helena Fabbri-Scallet ◽  
Maricilda Palandi de Mello ◽  
Gil Guerra-Júnior ◽  
Andréa Trevas Maciel-Guerra ◽  
Juliana Gabriel Ribeiro de Andrade ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Disorders Of Sex Development ◽  
Gene Mutations ◽  
Sex Development

scholarly journals Disorders of sex development: Genetic characterization of a patient cohort

2019 ◽  
Author(s):  
Mary Garc�a-Acero ◽  
Olga Moreno-Ni�o ◽  
Fernando Su�rez-Obando ◽  
M�nica Molina ◽  
Mar�a Manotas ◽  
...  
Keyword(s):  
Genetic Characterization ◽  
Disorders Of Sex Development ◽  
Patient Cohort ◽  
Sex Development

Molecular mechanisms associated with 46,XX disorders of sex development

2016 ◽  
Vol 130 (6) ◽  
pp. 421-432 ◽  
Author(s):  
Ingrid Knarston ◽  
Katie Ayers ◽  
Andrew Sinclair
Keyword(s):  
Molecular Mechanisms ◽  
Ovarian Development ◽  
Disorders Of Sex Development ◽  
Gonadal Development ◽  
Female Gonad ◽  
Ovarian Differentiation ◽  
Sex Development ◽  
Human Disorders ◽  
Genetic Mechanisms

In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can arise when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development, with particular emphasis on those that drive or inhibit ovarian differentiation. We discuss how disruption to these molecular pathways can lead to 46,XX disorders of ovarian development. Finally, we look at recently characterized novel genes and pathways that contribute and speculate how advances in technology will aid in further characterization of normal and disrupted human ovarian development.

Functional characterization of human brown adipose tissue metabolism

2020 ◽  
Vol 477 (7) ◽  
pp. 1261-1286 ◽  
Author(s):  
Marie Anne Richard ◽  
Hannah Pallubinsky ◽  
Denis P. Blondin
Keyword(s):  
Adipose Tissue ◽  
Brown Adipose Tissue ◽  
Functional Characterization ◽  
Human Infants ◽  
Positron Emission ◽  
Brown Adipose ◽  
Treatment Of Obesity ◽  
And Function

Brown adipose tissue (BAT) has long been described according to its histological features as a multilocular, lipid-containing tissue, light brown in color, that is also responsive to the cold and found especially in hibernating mammals and human infants. Its presence in both hibernators and human infants, combined with its function as a heat-generating organ, raised many questions about its role in humans. Early characterizations of the tissue in humans focused on its progressive atrophy with age and its apparent importance for cold-exposed workers. However, the use of positron emission tomography (PET) with the glucose tracer [18F]fluorodeoxyglucose ([18F]FDG) made it possible to begin characterizing the possible function of BAT in adult humans, and whether it could play a role in the prevention or treatment of obesity and type 2 diabetes (T2D). This review focuses on the in vivo functional characterization of human BAT, the methodological approaches applied to examine these features and addresses critical gaps that remain in moving the field forward. Specifically, we describe the anatomical and biomolecular features of human BAT, the modalities and applications of non-invasive tools such as PET and magnetic resonance imaging coupled with spectroscopy (MRI/MRS) to study BAT morphology and function in vivo, and finally describe the functional characteristics of human BAT that have only been possible through the development and application of such tools.

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