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.
Search
for
Sort by
Research
60-90 / 1000+ resultsresearch Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Corticotropin-Releasing Hormone and the Skin
CRH in the skin acts like the body's stress response system, affecting cell behavior and immune activity.
research Characterization of Human KAP24.1, A Cuticular Hair Keratin-Associated Protein with Unusual Amino Acid Composition and Repeat Structure
Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
research CRISPR/Cas9-Mediated Loss of FGF5 Function Increases Wool Staple Length in Sheep
Disabling the FGF5 gene in sheep leads to longer wool.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Increasing GSH-Px Activity and Activating Wnt Pathway Promote Fine Wool Growth in FGF5-Edited Sheep
Editing the FGF5 gene in sheep increases fine wool growth.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Hair Cycle Control by Leptin as a New Anagen Inducer
Leptin, a hormone, is important for starting hair growth.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Overexpression of Activin A in the Skin of Transgenic Mice Reveals New Activities in Epidermal Morphogenesis, Dermal Fibrosis, and Wound Repair
Overexpression of activin A in mice skin causes skin thickening, fibrosis, and improved wound healing.
research Klhl24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia
A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
research Compartmentalized Organization: A Common and Required Feature of Stem Cell Niches?
Compartmentalized organization might be crucial for stem cells to effectively respond to growth or injury.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Management of Pregnancy in a Carrier of the Donohue Mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Activin Controls Skin Morphogenesis and Wound Repair Predominantly via Stromal Cells and in a Concentration-Dependent Manner via Keratinocytes
Activin helps skin growth and healing mainly through stromal cells and affects keratinocytes based on its amount.
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 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 5α-Reductase Type 2 Gene Variant Associations with Prostate Cancer Risk, Circulating Hormone Levels, and Androgenetic Alopecia
A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
research Convergent Evolution of Cysteine-Rich Keratins in Hard Skin Appendages of Terrestrial Vertebrates
Cysteine-rich keratins evolved independently in mammals, reptiles, and birds for hard skin structures like hair, claws, and feathers.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Disruption of Anthrax Toxin Receptor 1 in Pigs Leads to a Rare Disease Phenotype and Protection from Senecavirus A Infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Characterization of Hairless (Hr) and FGF5 Genes Provides Insights into the Molecular Basis of Hair Loss in Cetaceans
Cetaceans lost hair due to changes in the Hr and FGF5 genes.
research Polymorphisms in the Human High Sulfur Hair Keratin-Associated Protein 1, KAP1, Gene Family
Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
research Hedgehog Signaling Reprograms Hair Follicle Niche Fibroblasts to a Hyper-Activated State
Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.