research Keratosis Follicularis Spinulosa Decalvans in a Female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
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research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Antiandrogen Therapy for Androgenetic Alopecia
Antiandrogen therapy helps treat genetic hair loss.
research Exome-Wide Age-Of-Onset Analysis Reveals Exonic Variants In ERN1 And SPPL2C Associated With Alzheimer’s Disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Two Familial Cases of Olmsted-Like Syndrome with a G573V Mutation of the TRPV3 Gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Monilethrix: A Rare Hereditary Condition
Monilethrix is a rare genetic hair disorder that's hard to treat.
research Update on Melasma—Part I: Pathogenesis
Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Drivers of Plateau Adaptability in Cashmere Goats Revealed by Genomic and Transcriptomic Analyses
The study found that genetic differences related to hair growth and other traits help cashmere goats adapt to high-altitude environments.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Construction of a cDNA Library and Identification of Genes from Liaoning Cashmere Goat
Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
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 Advances in Molecular Pathogenesis of Hidradenitis Suppurativa: Dysregulated Keratins and ECM Signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Association of Follicle-Stimulating Hormone Receptor Gene Ser680Asn (rs6166) Polymorphism with Polycystic Ovarian Syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Monilethrix: A Rare Inherited Hair Shaft Disorder in Siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research A Tale of Two Haplotypes: The EDA2R/AR Intergenic Region Is the Most Divergent Genomic Segment Between Africans and East Asians in the Human Genome
The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Keratosis Follicularis Spinulosa Decalvans: Case Report
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research Androgenetic Alopecia: Overview
AGA is a genetic, hormonal hair loss treated with finasteride, minoxidil, and supplements, but new compounds are being developed.
research Genome Wide Association Analysis of Root Hair Traits in Rice Reveals Novel Genomic Regions Controlling Epidermal Cell Differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Cardiac Biopsy in Myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Psoriasis And Related Disorders
Psoriasis is a common, genetically influenced skin disease worsened by stress and lifestyle, but targeted treatments are promising.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.