Results 91 to 100 of about 1,399,705 (315)
Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]
, 2019 Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph +7 more
core +1 more source
NG peptides: A novel family of neurophysin-associated neuropeptides [PDF]
, 2010 NOTICE: this is the author’s version of a work that was accepted for publication in GENE. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be ...
Bromham +20 more
core +1 more source
Pediatric Obesity, EarlyView.Summary Background To date, research on the natural history of hyperphagia, weight gain and health outcomes in individuals with Bardet‐Biedl syndrome (BBS) has been limited. Understanding these characteristics is important for disease burden management.
Jeremy Pomeroy +7 more
wiley +1 more source
The Diabetic Buddy: A Diet Regulator andTracking System for Diabetics [PDF]
arXiv, 2021 The prevalence of Diabetes mellitus (DM) in the Middle East is exceptionally high as compared to the rest of the world. In fact, the prevalence of diabetes in the Middle East is 17-20%, which is well above the global average of 8-9%. Research has shown that food intake has strong connections with the blood glucose levels of a patient.
arxiv
Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis. [PDF]
, 2013 Miner1 is a redox-active 2Fe2S cluster protein. Mutations in Miner1 result in Wolfram Syndrome, a metabolic disease associated with diabetes, blindness, deafness, and a shortened lifespan.
Andreyev, Alexander Y +12 more
core +1 more source
Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development
Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah +8 more
wiley +1 more source
Anti–PD-L1 Treatment Induced Central Diabetes Insipidus
Journal of Clinical Endocrinology and Metabolism, 2017 Context: Immune checkpoint inhibitors, including anti–programmed cell death protein 1 (PD-1), anti–programmed cell death protein ligand 1 (PD-L1), and anti–cytotoxic T-lymphocyte antigen 4 (anti-CTLA4) monoclonal antibodies, have been widely used in ...
Chen Zhao +7 more
semanticscholar +1 more source
Gestational Diabetes Insipidus Associated with HELLP Syndrome: A Case Report
Case Reports in Nephrology, 2012 Gestational diabetes insipidus is a rare, but well recognized, complication of pregnancy. It is related to excess vasopressinase enzyme activity which is metabolized in the liver. A high index of suspicion of gestational diabetes insipidus is required in
Renela Gambito +6 more
doaj +1 more source
Diabetes insípida como forma de apresentação de leucemia mielóide aguda.
Acta Médica Portuguesa, 2004 Central diabetes insipidus, is a syndrome characterized by the excretion of abnormally elevated volumes of diluted urine, due to the diminution of reabsorption of water in the collecting ducts, induced by the diminution of production of antidiuretic ...
Susana Calretas +5 more
doaj +1 more source
The atomic-level mechanism underlying the functionality of aquaporin-0 [PDF]
arXiv, 2013 So far, more than 82,000 protein structures have been reported in the Protein Data Bank, but the driving force and structures that allow for protein functions have not been elucidated at the atomic level for even one protein. We have been able to clarify that the inter-subunit hydrophobic interaction driving the electrostatic opening of the pore in ...
arxiv