research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
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180-210 / 1000+ results research Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Advances in Molecular Pathogenesis of Hidradenitis Suppurativa: Dysregulated Keratins and ECM Signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research Immunological and Metabolic Causes of Infertility in Polycystic Ovary Syndrome
PCOS causes infertility mainly due to hormonal imbalances, insulin resistance, and chronic inflammation.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Painful Thickened Skin on the Soles of the Feet
The man has a genetic skin condition called pachyonychia congenita.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Proceedings of the Inaugural Pediatric Dermatology Research Alliance Conference
The conference concluded with plans for joint research into children's skin conditions and emphasized the importance of collaboration and patient-focused research.
research Male-Pattern Hair Loss: Comprehensive Identification of the Associated Genes as a Basis for Understanding Pathophysiology
Male-pattern hair loss is largely influenced by genetics, with key genes identified.
research The Genetics Of Alopecia Areata: New Approaches, New Findings, New Treatments
New genetic discoveries may lead to better treatments for alopecia areata.
research The Genetic Architecture of Alopecia Areata
Genetic discoveries are leading to new treatments for alopecia areata.
research Notch Signaling Is Significantly Suppressed in Basal Cell Carcinomas and Activation Induces Basal Cell Carcinoma Cell Apoptosis
Activating Notch signaling can kill basal cell carcinoma cells.
research Subcellular Localization of the Five Members of the Human Steroid 5α-Reductase Family
All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research Hidradenitis Suppurativa: A Folliculotropic Disease of Innate Immune Barrier Dysfunction?
Hidradenitis suppurativa is a skin disease caused by the breakdown of the skin's natural immune barriers, especially around hair follicles.
research Cellular Heterogeneity and Plasticity of Skin Epithelial Cells in Wound Healing and Tumorigenesis
Skin cells show flexibility in healing wounds and forming tumors, with potential for treating hair disorders and chronic ulcers.
research Immunohistochemical, Pharmacovigilance, and Omics Analyses Reveal the Involvement of ATP-Sensitive K+ Channel Subunits in Cancers: Role in Drug-Disease Interactions
ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
research Aging Skin and Non-Surgical Procedures: A Basic Science Overview
Non-surgical procedures can help reduce wrinkles and stimulate skin repair by understanding skin aging at the molecular level.
research Exploiting the Origins of Ras-Mediated Squamous Cell Carcinoma to Develop Novel Therapeutic Interventions
Researchers found that hair follicle stem cells can become squamous cell carcinoma due to Ras activation, which could lead to new treatments.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Moxibustion Improves Ovarian Function Based on the Regulation of the Androgen Balance
Moxibustion may help improve ovarian function by changing androgen levels.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Successful Plasmapheresis and Immunoglobulin Treatment for Severe Lipid Storage Myopathy: Doing the Right Thing for the Wrong Reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Understanding Type 3 Innate Lymphoid Cells and Crosstalk with the Microbiota: A Skin Connection
Type 3 Innate Lymphoid Cells help maintain skin health and balance, and are involved in skin diseases and healing.
research Effects of Androgen Treatment on Growth in Patients with 5-Alpha-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.