research Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
Search
for
Sort by
Research
180-210 / 1000+ results
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Testicular Steroidogenesis: Production and Regulation of Testosterone and Dihydrotestosterone
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Late Presentation of Myotonic Dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Successful Use of Topical Minoxidil in the Treatment of Hypotrichosis Associated with Desmoplakin Mutations
Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Gene Variant in Amish a Clue to Better Aging
A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Primary Generalized Glucocorticoid Resistance And Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Keratosis Follicularis Spinulosa Decalvans in a Family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Becker's Nevus Associated with Chromosomal Mosaicism and Congenital Adrenal Hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research Association of Follicle-Stimulating Hormone Receptor Gene Ser680Asn (rs6166) Polymorphism with Polycystic Ovarian Syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Literature Review on Atopic Dermatitis and Related Studies
Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Androgenetic Alopecia: An Autosomal Dominant Disorder
Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Concurrent Follicular Dysplasia and Interface Dermatitis in Boxer Dogs
Boxer dogs may have a genetic skin condition that worsens seasonally and can be treated with certain medications.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Mechanical Anisotropy of Hair Affected by Genetic Diseases Highlights Structural Information Related to Differential Crosslinking in Keratins
research A Rare Case of Acrodermatitis Enteropathica in a One-Year-Old Child
A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Hutchinson-Gilford Syndrome: History, Causes, Phenotype and Research Advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.