The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature [0.03%]
普瑞德-威利综合征样表型和基因型的谱系：文献回顾
Alicia F Juriaans,Gerthe F Kerkhof,Anita C S Hokken-Koelega
Alicia F Juriaans
Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients with characteristics similar to PWS, but without a typical gen...
Elina Akalestou,Alexander D Miras,Guy A Rutter et al.
Elina Akalestou et al.
Obesity surgery remains the most effective treatment for obesity and its complications. Weight loss was initially attributed to decreased energy absorption from the gut but has since been linked to reduced appetitive behavior and potentiall...
William Rostène,Pierre De Meyts
William Rostène
Diabetes has been known since antiquity. We present here a historical perspective on the concepts and ideas regarding the physiopathology of the disease, on the progressive focus on the pancreas, in particular on the islets discovered by La...
The β Cell in Diabetes: Integrating Biomarkers With Functional Measures [0.03%]
糖尿病中的β细胞：整合生物标志物与功能指标
Steven E Kahn,Yi-Chun Chen,Nathalie Esser et al.
Steven E Kahn et al.
The pathogenesis of hyperglycemia observed in most forms of diabetes is intimately tied to the islet β cell. Impairments in propeptide processing and secretory function, along with the loss of these vital cells, is demonstrable not only in...
Svenja Nölting,Nicole Bechmann,David Taieb et al.
Svenja Nölting et al.
Pheochromocytomas/paragangliomas are characterized by a unique molecular landscape that allows their assignment to clusters based on underlying genetic alterations. With around 30% to 35% of Caucasian patients (a lower percentage in the Chi...
Fat Cell Size: Measurement Methods, Pathophysiological Origins, and Relationships With Metabolic Dysregulations [0.03%]
脂肪细胞体积：测量方法、病理生理起源及其与代谢紊乱的关系
Run Zhou Ye,Gabriel Richard,Nicolas Gévry et al.
Run Zhou Ye et al.
The obesity pandemic increasingly causes morbidity and mortality from type 2 diabetes, cardiovascular diseases and many other chronic diseases. Fat cell size (FCS) predicts numerous obesity-related complications such as lipid dysmetabolism,...
Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types [0.03%]
成骨不全症的发病机制及经典型与罕见型OI之间的信号通路联系
Milena Jovanovic,Gali Guterman-Ram,Joan C Marini
Milena Jovanovic
Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity. Previously known to be caused by defects in type I collagen, the m...
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management [0.03%]
先天性肾上腺皮质增生症-病理生理、诊断和管理的最新见解
Hedi L Claahsen-van der Grinten,Phyllis W Speiser,S Faisal Ahmed et al.
Hedi L Claahsen-van der Grinten et al.
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accu...
Lucie Malbeteau,Ha Thuy Pham,Louisane Eve et al.
Lucie Malbeteau et al.
Steroid receptors (SRs) are members of the nuclear hormonal receptor family, many of which are transcription factors regulated by ligand binding. SRs regulate various human physiological functions essential for maintenance of vital biologic...
The Relationship Between Bone and Reproductive Hormones Beyond Estrogens and Androgens [0.03%]
雌激素和雄激素之外的生殖激素与骨骼的关系
Edouard G Mills,Lisa Yang,Morten F Nielsen et al.
Edouard G Mills et al.
Reproductive hormones play a crucial role in the growth and maintenance of the mammalian skeleton. Indeed, the biological significance for this hormonal regulation of skeletal homeostasis is best illustrated by common clinical reproductive ...