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.
Search
for
Sort by
Research
120-150 / 1000+ results 
research Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer
Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Experimental Cutaneous Bacillus Anthracis Infections in Hairless HRS/J Mice
Hairless HRS/J mice resist Bacillus anthracis skin infections due to high numbers of immune cells, not because they lack hair follicles.
research Hairless Controls Hair Fate Decision via Wnt/β-Catenin Signaling
The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
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 Production of Ultraviolet-Light-Induced Skin Erythema in the Hairless Rat: A Comparison with the Haired Rat in Screening for Anti-Inflammatory Drugs
Hairless rats are good for testing anti-inflammatory drugs, similar to haired rats, without needing to remove fur.
research Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling
The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
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 Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
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 Two Mouse Mutations Mapped to Chromosome 11 with Differing Morphologies but Similar Progressive Inflammatory Alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Biological Significance of FoxN1 Gain-of-Function Mutations During T and B Lymphopoiesis in Juvenile Mice
FoxN1 overexpression in young mice harms immune cell and skin development.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed As Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Human Clinical Phenotype Associated With FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research The Variable Cell
Hairless protein is key for hair growth, cell differences cause gene expression variation, and the N-end rule pathway senses nitric oxide for protein breakdown.
research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
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 RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Learning From Nudity: Lessons From The Nude Phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Analysis Of The Function Of ADAM17 In IRhom2 Curly-Bare And Tylosis With Esophageal Cancer Mutant Mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.