Results 91 to 100 of about 532,082 (343)

Supramolecular Probe for Monitoring Lysosomal Ferritinophagy to Facilitate the Early Diagnosis of Parkinson's Disease

Aggregate, EarlyView.
A supramolecular fluorescent probe, TPE‐4B/4Q[7], was designed to target lysosomes. The restriction of intramolecular rotation effect mediated by Q[7] enhances the fluorescence of TPE‐4B/4Q[7], enabling selective detection of Fe3+ with a detection limit of 1.23 × 10⁻⁶ M.
Shiqin Zhou, Bo Xiao, Jiamin Chen, Jinming Zhu, Xia Ran, Zuoji Liu, Chaozhong Li, Li Wang, Xinai Cui, Rong Li, Guangwei Feng, Jian Feng   +11 more
wiley   +1 more source

High incidence of adrenal crisis in educated patients with chronic adrenal insufficiency: a prospective study.

Journal of Clinical Endocrinology and Metabolism, 2015
OBJECTIVE Adrenal crisis (AC) is a life-threatening complication of adrenal insufficiency (AI), which according to retrospective data represents a significant clinical complication.
S. Hahner, Christina Spinnler, M. Fassnacht, Stephanie Burger-Stritt, K. Lang, D. Milovanovic, F. Beuschlein, H. Willenberg, M. Quinkler, B. Allolio   +9 more
semanticscholar   +1 more source

NICOTIN AND THE ADRENALS [PDF]

The Journal of Nervous and Mental Disease, 1920
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Stewart, G. N., Rogoff, J. M.
openaire   +3 more sources

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Progress in micro RNA focused research in endocrinology

Endocrine Regulations, 2016
Micro RNAs (miRNAs) are small regulatory molecules of increasing biologists’ interest. miRNAs, unlikely mRNA, do not encode proteins. It is a class of small double stranded RNA molecules that via their seed sequence interact with mRNA and inhibit its ...
Voglova K., Bezakova J., Herichova Iveta
doaj   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Endocrine markers in critical illness

Journal of Pediatric Critical Care, 2017
Pointers of endocrine disease play important role in the management a sick child and high index of suspicion is needed to diagnose an endocrine problem in critical care setting.
Vaman Khadilkar, Sagar Lad
doaj   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Lack of mutations of exon 2 of the MEN1 gene in endocrine and nonendocrine sporadic tumors

Brazilian Journal of Medical and Biological Research, 2001
In addition to the mutations that underlie most cases of the multiple endocrine neoplasia type 1 (MEN1) syndrome, somatic mutations of the MEN1 gene have also been described in sporadic tumors like gastrinomas, insulinomas and bronchial carcinoid ...
S.C. Costa, L.S. Nascimento, F.J. Ferreira, P.S. Mattos, L.H. Camara-Lopes, L.S. Ward   +5 more
doaj   +1 more source