research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
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research A Missense Mutation in Lama3 Causes Androgen Alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis
HLA-DRB5 and other genes may be linked to alopecia universalis.
research Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
The research found specific genes that may cause longer hair in Tianzhu White Yak.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Registrars’ Symposium: Summaries of Papers
Lower adrenal hormone levels may cause hair loss in postmenopausal women, certain patterns help diagnose nail cancer, and a gene variant linked to higher skin cancer risk in kidney transplant patients suggests monitoring folate levels.
research The Hairless Gene in Androgenetic Alopecia: Results of a Systematic Mutation Screening and a Family-Based Association Approach
Hairless gene not strongly linked to baldness.
research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Pharmacogenetic Analysis of Human Steroid 5α Reductase Type II: Comparison of Finasteride and Dutasteride
Dutasteride is more efficient than finasteride, but individual results vary.
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 Proteomic Characterization of Damaged Single Hairs Recovered After an Explosion for Protein-Based Human Identification
Explosions don't stop hair proteins from being used to identify people.
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 De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Grey, Curly, and Short-Haired Swiss Holstein Cattle Show Genetic Traces of the Simmental Breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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 Prediction of Gain-of-Function and Loss-of-Function Mutations Using Combined Annotation Dependent Depletion
C-scores can help predict gain-of-function and loss-of-function mutations.
research Molecular Epidemiology of Hypospadias: Review of Genetic and Environmental Risk Factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Whole-Genome Sequencing of Eight Goat Populations for the Detection of Selection Signatures Underlying Production and Adaptive Traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching Is an Integrated Measure of Receptor Function
Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research What Does Acne Genetics Teach Us About Disease Pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
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 A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Genetic Variations Associated With Response to Dutasteride in the Treatment of Male Subjects With Androgenetic Alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.