research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
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research КЛІНІЧНІ ФЕНОТИПИ ВИСОКОГО РИЗИКУ НАЯВНОСТІ ПЕРВИННИХ МІТОХОНДРІАЛЬНИХ ЦИТОПАТІЙ (частина 2)
Primary mitochondrial cytopathies often cause skin, endocrine, vision, and blood issues, needing careful diagnosis.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Improving the anti-ageing activity of coenzyme Q10 through protransfersome-loaded emulgel
The method improved CoQ10's stability and effectiveness for anti-ageing skincare.
research Follicular Unit Hair Transplantation
Follicular Unit Hair Transplantation is a method for restoring hair by transplanting individual hair follicles.
research From the LiteratureLiterary Review
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research Cyberspace Chat…
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research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Cover Image
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research Pathology in Practice
A 7-year-old dog with a rare autoimmune disease was euthanized due to severe anemia and poor prognosis.
research Long-term detection of methyltestosterone (ab-) use by a yeast transactivation system
A yeast-based test can detect the steroid methyltestosterone in urine longer than traditional methods.
research Eruptive vellus hair cysts of the labia majora: detection of openings of the cysts to the epidermis by dermoscopy
Dermoscopy can non-invasively detect eruptive vellus hair cysts on the labia majora.
research Diagnostic, Therapeutic, and Theranostic Multifunctional Microneedles
Microneedles are becoming essential tools in medicine for sensing, drug delivery, and communication.
research MP85-04 DOES IMIPRAMINE AND PSEUDOEPHEDRINE MEDICAL TREATMENT HAVE CLINICAL IMPLICATION IN TREATMENT OF RETROGRADE EJACULATION CAUSED BY DIABETES MELLITUS?
Imipramine and pseudoephedrine treatment can effectively restore normal ejaculation in patients with diabetes, increasing their chances for pregnancy.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research An Autophagy-Related Kinase Is Essential for the Symbiotic Relationship between Phaseolus vulgaris and Both Rhizobia and Arbuscular Mycorrhizal Fungi
A specific enzyme is crucial for the bean plant's relationship with certain beneficial soil bacteria and fungi.
research stem cell translation and bioethics
The document concludes that stem cell therapies lack solid proof of effectiveness, except for blood system treatments, and criticizes the ethical issues and commercial exploitation in the field.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research EctopicAtoh1expression drives Merkel cell production in embryonic, postnatal and adult epidermis
Atoh1 expression can create new Merkel cells in the skin.
research PROCEEDİNGS OF THE FIRST INTERNATIONAL SCIENTIFIC PRACTICAL ONLINE CONFERENCE HUMAN GENETICS AND GENETIC DISEASES: PROBLEMS AND DEVELOPMENT PERSPECTIVES
research Understanding the symptoms and impacts of living with metastatic pancreatic adenocarcinoma: a prospective, noninterventional qualitative study
Living with metastatic pancreatic cancer involves symptoms like fatigue and nausea, and impacts like anxiety and reduced physical function.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research C-2-3 GND-VIAを用いたX帯SiGe-MMIC増幅器(C-2. マイクロ波A(能動デバイス), エレクトロニクス1)
Cancer prevention has advanced significantly, with some strategies proving successful.
research INVESTIGATION OF THE EFFECTS OF VISCERAL MASSAGE ON THE MORPHOFUNCTIONAL STATE OF THE SKIN AND SYSTEMIC METABOLISM
Visceral massage improves skin health and metabolism.
research Body Representation in Patients with Severe Spinal Cord Injury: A Pilot Study on the Promising Role of Powered Exoskeleton for Gait Training
Powered exoskeleton training improves body perception and quality of life in spinal cord injury patients.
research Bead-jet printing enabled sparse mesenchymal stem cell patterning augments skeletal muscle and hair follicle regeneration
Bead-jet printing of stem cells improves muscle and hair regeneration.
research NEW CHALLENGE TO CANCER AND LONGEVITY
A group has developed therapies that show promise for treating cancer and various other conditions.