research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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research A Locus on Distal Chromosome 10 (Ahl4) Affecting Age-Related Hearing Loss in A/J Mice
Scientists found a gene in mice that causes early hearing loss.
research Genome-Wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26
Hair loss gene found on chromosome 3q26.
research Influence of TRPV3 Mutation on Hair Growth Cycle in Mice
The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.
research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice
The Foxn1 gene is essential for normal nail and hair development.
research A Mouse Model of Androgenetic Alopecia
Mice with human gene experienced hair loss when treated with DHT.
research Investigation of the Male Pattern Baldness Major Genetic Susceptibility Loci AR/EDA2R and 20p11 in Female Pattern Hair Loss
AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research A Genome-Wide Association Study of Chemotherapy-Induced Alopecia in Breast Cancer Patients
A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
research Gsdma3 Is Required for Hair Follicle Differentiation in Mice
The Gsdma3 gene is essential for normal hair development in mice.
research CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism?
Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Hair Keratin KRT81 Is Expressed in Normal and Breast Cancer Cells and Contributes to Their Invasiveness
The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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 Association Between TLR1 Polymorphisms and Alopecia Areata
A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
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 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 RNA Interference of NtNCED3 Reduces Drought Tolerance and Impairs Plant Growth Through Feedback Regulation of Isoprenoids in Nicotiana Tabacum
Silencing NtNCED3-2 gene in tobacco reduces drought tolerance and impairs growth.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Sebaceous Gland Abnormalities in Fatty Acyl CoA Reductase 2 (Far2) Null Mice Result in Primary Cicatricial Alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Hairless Down-Regulates Expression of Msx2 and Its Related Target Genes in Hair Follicles
Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
research CRISPR/Cas9-Mediated Disruption of Fibroblast Growth Factor 5 in Rabbits Results in a Systemic Long Hair Phenotype by Prolonging Anagen
Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
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 MC4R Variants rs12970134 and rs17782313 Are Associated with Obese Polycystic Ovary Syndrome Patients in the Western Region of Saudi Arabia
Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
research Genetic Deletion of TNFα Inhibits Ultraviolet Radiation-Induced Development of Cutaneous Squamous Cell Carcinomas in PKCε Transgenic Mice via Inhibition of Cell Survival Signals
Deleting TNFα gene reduces skin cancer risk in certain mice.
research Upregulation of Interfollicular Epidermal and Hair Infundibulum β-Catenin Expression in Gsdma3 Mutant Mice
Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.