research Pathogenesis and Management of TRPV3-Related Olmsted Syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
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research Melanocytes in Regenerative Medicine Applications and Disease Modeling
Melanocytes are important for normal body functions and have potential uses in regenerative medicine and disease treatment.
research Regulation of Hair Follicle Growth and Development by Different Alternative Spliceosomes of FGF5 in Rabbits
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
research ST14 Interacts With TMEFF1 and Is a Predictor of Poor Prognosis in Ovarian Cancer
High levels of ST14 and TMEFF1 proteins in ovarian cancer are linked to worse patient outcomes and may be a new treatment target.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.
research Whole Genome Sequencing Analysis of Alpaca Suggests TRPV3 as a Candidate Gene for the Suri Phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research MTurq2-Col4a1 Mouse Model Allows for Live Visualization of Mammalian Basement Membrane Development
The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
research Characterization of Type II Rickets Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
research Gene Therapy for Alopecia in Type II Rickets Model Rats Using Vitamin D Receptor-Expressing Adenovirus Vector
Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
research Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Testosterone: The Male Sex Hormone
More research is needed to understand how testosterone is maintained in adult males.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome: A Pilot Study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Correlation Analysis of Four KRTAP Gene Polymorphisms and Cashmere Fiber Diameters in Two Cashmere Goat Breeds
Certain gene variations are linked to the thickness of cashmere goat hair.
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 EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
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 Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
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 Acute Sensitivity of the Oral Mucosa to Oncogenic K-ras
Oncogenic K-ras causes rapid cancerous changes in the mouth's lining.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Clinical Course of the First Japanese Family with Marie Unna Hereditary Hypotrichosis: A Follow-Up Report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research The ITGB6 Gene: Its Role in Experimental and Clinical Biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research No Improvement in Male-Pattern Hair Loss Using Laser Hair-Comb Therapy: A 6-Month, Half-Head, Assessor-Blinded Investigation in Two Men
Laser hair-comb therapy doesn't improve male-pattern hair loss.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Siberian Cats Help in Solving Part of the Mystery Surrounding Golden Cats
The CORIN gene variant causes the golden color in Siberian cats.