research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
Search
for
Sort by
Research
30 / 44 results research Phospholipase A2 in Skin Biology: New Insights from Gene-Manipulated Mice and Lipidomics
Phospholipase A2 enzymes play key roles in skin health and disease.
research Topical Polyhydroxy Acid Treatment for Autosomal Recessive Congenital Ichthyosis in the Golden Retriever: A Prospective Pilot Study
Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
research Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation in a Golden Retriever–Poodle Cross-Bred Dog and the Effect of Topical Therapy
Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
research The Estrogen Receptor 2 (ESR2) Gene in Female-Pattern Hair Loss: Replication of Association with rs10137185 in German Patients
ESR2 gene linked to female-pattern hair loss.
research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
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 Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis
Different genes are active in dogs' hair growth and skin, similar to humans, which helps understand dog skin and hair diseases and can relate to human conditions.
research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research The Role of Linoleic Acid in Skin and Hair Health: A Review
Linoleic acid is important for healthy skin and hair.
research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
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 Metabolic Pathways of Eicosanoids: Derivatives of Arachidonic Acid and Their Significance in Skin
Eicosanoids are crucial for skin health, and targeting their pathways may help treat skin conditions.
research References
research Group IID, IIE, IIF, and III Secreted Phospholipase A2s
Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
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 Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
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 Expression and Function of Group IIE Phospholipase A2 in Mouse Skin
sPLA2-IIE is crucial for normal hair follicle structure and skin health.
research Nonalcoholic Fatty Liver Disease and Polycystic Ovary Syndrome
People with PCOS, especially if obese, often have NAFLD, linked to obesity, insulin resistance, and high androgen levels.
research Dermal Adipocyte Lipolysis and Myofibroblast Conversion Are Required for Efficient Skin Repair
Fat cells in the skin help start healing and form important repair cells after injury.
research Enzymes
Enzymes are classified into six types and are essential for many biological processes, with only a few targeted by drugs.
research Azathioprine-Induced Severe Myelosuppression Accompanied by Massive Hair Loss and Painful Oral Ulcer in an Autoimmune Hepatitis Patient with NUDT15 Minor Variant: A Case Report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research Keratinocytes of the Upper Epidermis and Isthmus of Hair Follicles Express Hemoglobin mRNA and Protein
Skin cells and certain hair follicle areas produce hemoglobin, which may help protect against oxidative stress like UV damage.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Follicle Hormones
Follicle Stimulating Hormone is important for fertility.