Results 81 to 90 of about 6,542,588 (257)

Optimization of bone health in children before and after renal transplantation: current perspectives and future directions

Frontiers in Pediatrics, 2014
The accrual of healthy bone during the critical period of childhood and adolescence sets the stage for lifelong skeletal health. However, in children with chronic kidney disease (CKD), disturbances in mineral metabolism and endocrine homeostasis begin ...
Kristen eSgambat, Asha eMoudgil
doaj   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 more
wiley   +1 more source

CROSS-TALK BETWEEN ENDOCRINE SYSTEM AND OTHER BIOLOGICAL PATHWAYS: PHYSIOLOGICAL AND PATHOLOGICAL IMPLICATIONS IN PAEDIATRIC ENDOCRINOPATHIES [PDF]

, 2009
Endocrine system exerts relevant effects on multiple organs and tissues. Pleiotropic and redundant functions of circulating hormones are due to the various receptors expressed on multiple target cells.
Capalbo, Donatella
core   +1 more source

A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet

Italian Journal of Pediatrics, 2020
Background Growth failure and growth hormone deficiency (GHD) have been reported as one accessory feature of GLUT1 deficiency syndrome (GLUT1DS), considered so far as a long-term adverse effects of ketogenic diet which is used to treat this condition ...
Gianluca Tornese, Giuseppa Patti, Maria Chiara Pellegrin, Paola Costa, Flavio Faletra, Elena Faleschini, Egidio Barbi   +6 more
doaj   +1 more source

Development of Versatile Nanoparticle System for Efficient Drug Delivery into Pulmonary Endothelium

Advanced Science, EarlyView.
Pediatric acute respiratory distress syndrome (PARDS) suppresses the FOXF1 transcription factor and disrupts lung development. This study shows that the FOXF1‐activating small‐molecule compound, TanFe[F], can be precisely delivered to lung endothelial cells using the innovative LEDD nanoparticle system.
Afzaal N. Mohammed, Zicheng Deng, Arnab Misra, Marcus Orzabal, Ananya Kondapally, Enhong Li, Jonathan Do, Ying‐Wei Lan, Fatemeh Kohram, Hunter Blackburn, Andreas Damianos, Tanya V. Kalin, Vladimir V. Kalinichenko   +12 more
wiley   +1 more source

Growth and Nutrition in Pediatric Chronic Kidney Disease

Frontiers in Pediatrics, 2018
Children with chronic kidney disease (CKD) feature significant challenges to the maintenance of adequate nutrition and linear growth. Moreover, the impaired nutritional state contributes directly to poor growth.
Douglas M. Silverstein
doaj   +1 more source

AI‐Assisted Ultrasensitive Biosensing using Metal‐Electrolyte‐Metal‐Insulator‐Silicon Structure Based on Oxygen‐Tunable Iridium Oxide Nanonets for Lysyl‐Oxidase‐Like‐2 Breast Cancer Detection

Advanced Electronic Materials, EarlyView.
An oxygen‐controlled iridium‐oxide (IrOx) nano‐net structure is developed to enhance the sensitivity of metal‐electrolyte‐metal‐insulator‐silicon (MEMIS) biosensors. Integrated with a deep learning model, this platform achieves a high accuracy of 94.8% for detecting the breast cancer biomarker LOXL2.
Chiao‐Fan Chiu, Pankaj Kumar, Long Nguyen Minh Le, Ping‐Hsuan Wu, Punnatorn Boonyoung, Shen Tingyang, Abhijit Aich, Yi‐Pin Chen, Shih‐Yin Huang, Siddheswar Maikap   +9 more
wiley   +1 more source

Netherton syndrome associated with growth hormone deficiency

, 2014
Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features.
Bas, Firdevs, Bundak, Ruveyde, Ozkaya, Esen, Guler, Nermin, Kilic, Gurkan, Tamay, Zeynep Ülker, Suleyman, Ayse, Darendeliler, Feyza, Saka, Nurcin, Aydin, Banu Kucukemre   +9 more
core   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source