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.
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720-750 / 1000+ results 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 A Genetically Defined Male Counterpart of Polycystic Ovary Syndrome: Evidence for Ovarian-Independent Pathogenesis
Men with high genetic risk for Polycystic Ovary Syndrome (PCOS) have increased chances of obesity, type 2 diabetes, heart disease, and hair loss, showing PCOS risk factors can affect both genders.
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 The First Broad Replication Study of SNPs and a Pilot Genome-Wide Association Study for Androgenetic Alopecia in Asian Populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) Syndrome: A Case Report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Monilethrix: The Use of Trichoscopy in Clinical Diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
research Granulomatous Skin Involvement in a Patient with an Unusual NOD2 Mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research Cross-Species Amplification of Human Microsatellite Markers in Pig-Tailed and Stump-Tailed Macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Association Study Reveals a Susceptibility Locus With Male Pattern Baldness in the Han Chinese Population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
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 Integrated Single-Cell RNA-Sequencing Data of Unwounded and Wounded Mouse Skin and Fibroblasts
The dataset includes detailed genetic information from mouse skin cells before and after injury.
research Integrated Single-Cell RNA-Sequencing Data of Unwounded and Wounded Mouse Skin and Fibroblasts
The dataset includes detailed genetic information from mouse skin cells before and after injury.
research Polygenic Risk Score Predicting Susceptibility and Outcome of Benign Prostatic Hyperplasia in the Han Chinese
A higher genetic risk score increases the chance of getting benign prostatic hyperplasia and affects treatment outcomes in Han Chinese men.
research Critical Evaluation of the Concept of Genetics in Ayurveda with Special Reference to Eight Undesired Body Types (Ashta Nindit)
Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Vitamin D Dependent Rickets Type 2: A Case-Based Review of a Patient With Alopecia and Rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Selection Signatures in Goats Reveal a Novel Deletion Mutant Underlying Cashmere Yield and Diameter
A specific genetic deletion in goats affects cashmere yield and thickness.