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.
Search
for
Did you mean Frameshift Mutation?
Sort by
Research
30 / 1000+ results
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 Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
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 Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
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 Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
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 Alopecia Areata in a Rhesus Monkey (Macaca Mulatta)
The monkey's hair loss was due to an autoimmune disease, not genetics.
research Membrane Androgen Receptors May Mediate Androgen Reinforcement
Androgen self-administration might be controlled by membrane receptors, not nuclear ones.
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 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 Hair Cycle Control by Leptin as a New Anagen Inducer
Leptin, a hormone, is important for starting hair growth.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research Characterization of Hairless (Hr) and FGF5 Genes Provides Insights into the Molecular Basis of Hair Loss in Cetaceans
Cetaceans lost hair due to changes in the Hr and FGF5 genes.
research Mammalian Keratin-Associated Proteins (KRTAPs) Subgenomes: Disentangling Hair Diversity and Adaptation to Terrestrial and Aquatic Environments
Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
research Protein Profiling of Forehead Epidermal Corneocytes Distinguishes Frontal Fibrosing From Androgenetic Alopecia
Protein profiling of forehead skin can help distinguish between frontal fibrosing alopecia and androgenetic alopecia.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
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 Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution, And Tumor-Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
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.
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 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 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 Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe 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 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.