research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
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research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research TLR2 regulates hair follicle cycle and regeneration via BMP signaling
TLR2 is important for hair growth and can be targeted to treat hair loss.
research Armadillo Repeat Only Proteins Are Crucial for the Function of Plant CNGC Channels
Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
research Generation of Genetically Modified Rats Using CRISPR/Cas9 Genome-Editing System to Reveal Novel Vitamin D Actions
Genetically modified rats help reveal how vitamin D affects bone and skin health.
research DcR3 reprograms macrophage plasticity to promote wound healing and hair regeneration
DcR3 helps heal wounds and regrow hair by changing macrophages to a repair-focused type.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research TLR2 Regulates Hair Follicle Cycle and Regeneration via BMP Signaling
TLR2 helps control hair growth and regeneration, and its reduction with age or obesity can impair hair growth.
research Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.
research Transcriptomic characterization of Lonrf1 at the single-cell level under pathophysiological conditions
LONRF1 is important for oxidative damage response and tissue remodeling during wound healing.
research Effect of thioredoxin reductase 1 on glucocorticoid receptor activity in human outer root sheath cells
Thioredoxin reductase 1 does not affect glucocorticoid receptor activity in hair follicle cells.
research OsPHR2 Is Involved in Phosphate-Starvation Signaling and Excessive Phosphate Accumulation in Shoots of Plants
OsPHR2 gene causes excessive phosphate in rice shoots, affecting plant growth and root development.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Consequences of steroid-5α-reductase deficiency and inhibition in vertebrates
Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
research Detection of circular RNA expression and related quantitative trait loci in the human dorsolateral prefrontal cortex
Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
research The role of vitamin D receptor mutations in the development of alopecia
Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Hypothesis: Wound‐induced TLR3 activation stimulates endogenous retinoic acid synthesis and signalling during regeneration
Activating TLR3 may help produce retinoic acid, important for tissue regeneration.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research SRD5A2 and emerging therapies in androgen-driven disorders
research Functional mapping of the mouse hairless gene promoter region
Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
research Zeb2 recruits HDAC–NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination
Zeb2 is crucial for nerve repair by controlling Schwann cell function.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is crucial for normal hair structure and pigmentation.