research Mutational Analysis of Mitochondrial DNA in Maternal Inheritance of Polycystic Ovarian Syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
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research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Genetic Control and Involvement in Hair Fiber Traits
research Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
research Roles of Jumonji and Jumonji Family Genes in Chromatin Regulation and Development
Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
research Hairless-Knockout Piglets Generated Using CRISPR/Cas9 Exhibit Abnormalities in Skin and Thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Apoptosis May Explain the Pharmacological Mode of Action and Adverse Effects of Isotretinoin, Including Teratogenicity
Isotretinoin's effects and side effects, like birth defects and depression, might be due to it causing cell death in various cells.
research Mapping of a Novel Locus for Keratosis Follicularis Squamosa on Chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research First Symposium on Natural Gene Therapy of the Skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia Among Women Presenting with Hyperandrogenic Symptoms and Signs
About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research Diagnostic Imaging in Congenital Adrenal Hyperplasia: How Does It Help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.
research Using the Zebrafish Lateral Line to Uncover Novel Mechanisms of Action and Prevention in Drug-Induced Hair Cell Death
Zebrafish helped find new ways to prevent drug-induced hair cell death and potential treatments for hearing loss.
research Dermatologic Manifestations of Polycystic Ovary Syndrome
Women with PCOS often have skin problems like excessive hair, acne, hair loss, and dark patches, which can be treated with hormonal and non-hormonal therapies.
research Polycystic Ovary Syndrome: Pathophysiology, Diagnosis, and Treatment
PCOS is a common hormonal disorder in women that can lead to serious health problems.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research The Relationship Between Keratin 18 and Epithelial-Derived Tumors: As a Diagnostic Marker, Prognostic Marker, and Its Role in Tumorigenesis
Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
research The North American Menopause Society Recommendations for Clinical Care of Midlife Women
The NAMS 2014 recommendations guide healthcare providers on treating health issues in midlife women, emphasizing individualized care and informed decision-making.
research Anthracycline Analogs: The Past, Present, And Future
Epirubicin is as effective as doxorubicin for cancer treatment with less heart damage, but doesn't work on doxorubicin-resistant cancers.
research Ameliorative Effects of Rutin Against Metabolic, Biochemical, and Hormonal Disturbances in Polycystic Ovary Syndrome in Rats
Rutin may help treat symptoms of polycystic ovary syndrome (PCOS) in rats.