research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
Search
for
Sort by
Research
510-540 / 629 resultsresearch The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research The Use of Cyclosporine in Dermatology: Part I
Cyclosporine is effective for skin conditions but has declined in use due to toxicity concerns.
research Cytochrome P450: A Target for Drug Development for Skin Diseases
Modulating Cytochrome P450 activity could help develop new skin disease treatments.
research RASopathic Skin Eruptions During Vemurafenib Therapy
Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
research Rapidly Progressing Mycosis Fungoides Presenting as Follicular Mucinosis
Follicular mucinosis can be an early sign of aggressive mycosis fungoides.
research Keratins and Skin Disease: Genetic and Molecular Roles
Keratin mutations cause skin diseases and could lead to new treatments.
research Alteration of Skin Properties with Autologous Dermal Fibroblasts
Using your own skin cells can help repair aging skin and promote hair growth.
research Phototherapy in Childhood Dermatoses
Phototherapy is effective and well-tolerated for treating childhood psoriasis and pityriasis lichenoides chronica.
research The Genetics Of Alopecia Areata: New Approaches, New Findings, New Treatments
New genetic discoveries may lead to better treatments for alopecia areata.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Photobiomodulation Therapy in Management of Cancer Therapy-Induced Side Effects: WALT Position Paper 2022
Photobiomodulation therapy helps manage cancer treatment side effects but needs more research for optimization.
research Comparative Genome Analyses Reveal the Unique Genetic Composition and Selection Signals Underlying the Phenotypic Characteristics of Three Chinese Domestic Goat Breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Activation of TRPV3 Inhibits Lipogenesis and Stimulates Production of Inflammatory Mediators in Human Sebocytes—A Putative Contributor to Dry Skin Dermatoses
Activating TRPV3 reduces skin oil production and increases inflammation, potentially causing dry skin issues.
research Cure of Alopecia Areata After Eradication of Helicobacter Pylori: A New Association?
Treating H. pylori infection might help cure alopecia areata.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Clinical Application of Nonantibiotic Macrolides for Inflammation-Driven Immune Dysfunction in Inflammatory Skin Diseases
Nonantibiotic macrolides show promise for treating various inflammatory skin conditions.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Colchicine in Managing Skin Conditions: A Systematic Review
Colchicine might help treat different skin diseases, but more research is needed to confirm its effectiveness and safe dosage.
research Skin Manifestations Associated with COVID-19
COVID-19 can cause various skin issues, like rashes and lesions, which are more common in younger patients and can be linked to more severe complications.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Immunopathology and Immunotherapy of Inflammatory Skin Diseases
New targeted immunotherapies are improving treatment for inflammatory skin diseases.
research Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis
The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
research The Important Role of Leptin in Modulating the Risk of Dermatological Diseases
Leptin, a hormone from fat cells, affects immune responses and can influence skin diseases and hair growth.
research Prophylaxis and Management of Skin Toxicities
Preventive measures and effective management are crucial for reducing skin side effects in cancer treatment.
research Cell Death in Skin Function, Inflammation, and Disease
Different types of cell death affect skin health and inflammation, and understanding them could improve treatments for skin diseases.
research A Rare Case of Woolly Hair with Unusual Associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.