research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
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30 / 1000+ results research Novel Small-Insertion Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Vitamin D3 Analogs Stimulate Hair Growth in Nude Mice
Vitamin D3 analogs can promote hair growth in mice genetically prone to hair loss.
research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Expression and Function of FGF5 Isoform in Hair Growth
Different forms of FGF5 either promote or inhibit hair growth.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research The Cutaneous Serotoninergic/Melatoninergic System: Securing a Place Under the Sun
Human skin can make serotonin and melatonin, which help protect and maintain it.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research On the Role of Melatonin in Skin Physiology and Pathology
Melatonin is important for skin health and protection, and can be made by the skin or applied to it.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Characterization of the Serotoninergic System in the C57BL/6 Mouse Skin
Mouse skin can produce and process serotonin, with variations depending on hair cycle, body location, and mouse strain.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research AGD1, A Class 1 ARF-GAP, Acts in Common Signaling Pathways with Phosphoinositide Metabolism and the Actin Cytoskeleton in Controlling Arabidopsis Root Hair Polarity
AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
research Hair Cycle Control by Leptin as a New Anagen Inducer
Leptin, a hormone, is important for starting hair growth.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research 5-Alpha Reductase Deficiency
5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
research Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Alopecia Areata in a Rhesus Monkey (Macaca Mulatta)
The monkey's hair loss was due to an autoimmune disease, not genetics.
research Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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 Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Genotoxicity of Rice Bran Oil Extracted by Supercritical CO2 Extraction
Rice bran oil extracted by supercritical CO2 is considered non-genotoxic.
research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Spironolactone May Reduce the Risk of Incident Rosacea
Spironolactone might lower the chance of getting rosacea.