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Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
Aims/hypothesisCurrent clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for...
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Genetic research in Immunogenetics Group of Endocrinology and Metabolism Research Institute
Due to the high prevalence of metabolic diseases and the role of genetic factors in their susceptibility, the use of basic research in this field can...
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Hyperglykämie bei einem Neugeborenen
This article presents the case of a patient diagnosed with permanent neonatal diabetes mellitus. The newborn infant developed diabetic ketoacidosis...
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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
BackgroundInherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently...
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Sodium Phenylbutyrate and Tauroursodeoxycholic Acid: A Story of Hope Turned to Disappointment in Amyotrophic Lateral Sclerosis Treatment
The absence of a definitive cure for amyotrophic lateral sclerosis (ALS) emphasizes the crucial need to explore new and improved treatment approaches...
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Marchantia polymorpha L. ethanol extract induces apoptosis in hepatocellular carcinoma cells via intrinsic- and endoplasmic reticulum stress-associated pathways
BackgroundMarchantia polymorpha L. is a kind of Chinese herbal medicine and has various biological activities including antioxidant and antifungal....
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Therapeutic opportunities for pancreatic β-cell ER stress in diabetes mellitus
Diabetes mellitus is characterized by the failure of insulin-secreting pancreatic β-cells (or β-cell death) due to either autoimmunity (type 1...
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Optic disc drusen: Dystrophic calcification, a potential target for treatment
Optic disc drusen (ODD) are calcified, acellular bodies, seen in the optic nerve head of up to 2% of the population. Although seldomly affecting...
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Emerging therapeutic options in the management of diabetes: recent trends, challenges and future directions
Diabetes is a serious health issue that causes a progressive dysregulation of carbohydrate metabolism due to insufficient insulin hormone, leading to...
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Humangenetische Diagnostik bei hereditären Augenerkrankungen
Hereditary eye disorders can affect all ocular structures and can be accompanied by structural malformations (e.g. coloboma) or functional disorders...
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Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
BackgroundThe prevalence of monogenic diabetes is estimated to be 1.1–6.3% of patients with diabetes mellitus (DM) in Europe. The overlap**...
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Type 2 diabetes mellitus plays a protective role against osteoporosis --mendelian randomization analysis
BackgroundType 2 diabetes mellitus (DM2) and osteoporosis (OP) are currently the two most significant causes of mortality and morbidity in older...
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Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center
The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of...
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Lessons from Wolfram Syndrome: Initiation of DDAVP Therapy Causes Renal Salt Wasting Due to Elevated ANP/BNP Levels, Rescued by Fludrocortisone Treatment
Initiation of desmopressin acetate (DDAVP) for untreated diabetes insipidus (DI) in Wolfram syndrome (WS) causes abrupt volume expansion resulting in...
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YTHDF2 in dentate gyrus is the m6A reader mediating m6A modification in hippocampus-dependent learning and memory
N 6 -methyladenosine (m 6 A) has been demonstrated to regulate learning and memory in mice. To investigate the mechanism by which m 6 A modification exerts...
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A soluble endoplasmic reticulum factor as regenerative therapy for Wolfram syndrome
Endoplasmic reticulum (ER) stress-mediated cell death is an emerging target for human chronic disorders, including neurodegeneration and diabetes....
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Molecular genetic analysis of the insulin gene variants in Iranian patients with permanent neonatal diabetes
BackgroundWe aimed to determine the frequency of mutations in 3 common genes causing neonatal diabetes mellitus (NDM) in Isfahan.
Methods ...