research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Tight Junction Barriers in Human Hair Follicles – Role of Claudin-1
Claudin-1 is important for the barrier function and growth of hair.
research The Role of Tight Junctions in Skin Barrier Function and Dermal Absorption
Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
research Tight Junctions Form a Barrier in Porcine Hair Follicles
Tight junctions create a barrier in pig hair follicles that controls what can enter the skin.
research Delayed Epidermal Permeability Barrier Formation and Hair Follicle Aberrations in Inv-Cldn6 Mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research Follicle Hormones
Follicle Stimulating Hormone is important for fertility.
research Alopecia Universalis After Sitagliptin Intake
A patient's hair loss may be linked to their diabetes medication, Sitagliptin.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research PRIDE Syndrome Associated With Panitumumab Treatment – Case Report and Literature Review
A man's severe skin reaction from cancer treatment improved with early diagnosis and proper medication.
research Autoimmune Polyglandular Syndrome Type 4 – Case Report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
research American Association of Clinical Endocrinologists, American College of Endocrinology, and Androgen Excess and PCOS Society Disease State Clinical Review: Guide to the Best Practices in the Evaluation and Treatment of Polycystic Ovary Syndrome - Part 1
The guide recommends specific methods for diagnosing PCOS and various treatments for its symptoms, while considering the health impacts on adolescents.
research Effects of a Postbiotic Saccharomyces and Lactobacillus Ferment Complex on the Scalp Microbiome of Chinese Women with Sensitive Scalp Syndrome
SLFC can improve scalp health and reduce sensitive scalp symptoms.
research Protein Kinase C Is a Key Target for Attenuation of Leigh Syndrome by Rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Type 3 Autoimmune Polyendocrine Syndrome Diagnosed in an 87-Year-Old Patient with Concomitant Chronic Autoimmune Urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Popliteal Artery Entrapment Syndrome (PAES) — A Case Report on Differential Diagnosis of Intermittent Claudication
Popliteal Artery Entrapment Syndrome (PAES) is a rare but possible cause of leg pain during walking, even in untrained women.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Relationship Between Androgenetic Alopecia and Cardiovascular Risk Factors According to BASP Classification in Koreans
Hair loss links to high blood pressure, high fat levels, and metabolic issues, suggesting early heart disease screening.
research Update on Hidradenitis Suppurativa (Part I): Epidemiology, Pathogenesis, Severity Assessment and Comorbidities
Hidradenitis suppurativa is a chronic skin condition more common in women, linked to genetics and lifestyle factors, and associated with various other health issues.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Androgenetic Alopecia as a Cardiovascular Risk Factor
Hair loss may increase heart disease risk.
research Androgen Therapy in Women: A Reappraisal: An Endocrine Society Clinical Practice Guideline
The guidelines advise against using testosterone and DHEA in women for most conditions due to safety and effectiveness concerns, but suggest considering testosterone for postmenopausal women with low sexual desire.
research The Hair Shaft: Normality, Abnormality, and Genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Somatization in Dermatology Patients: Sociocultural Perspectives
Skin symptoms without a medical cause often reflect psychological stress and are influenced by culture, requiring a team approach for treatment.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research PKC Downregulation Upon Rapamycin Treatment Attenuates Mitochondrial Disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.