research 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC
A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
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540-570 / 1000+ resultsresearch A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Ectodysplasin research—Where to next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Real-world assessment of ritlecitinib in patients with severe alopecia areata: a 24-week multicentre retrospective study
Ritlecitinib may be more effective for severe alopecia areata than conventional treatments.
research The calcium-binding protein calretinin is a marker of the companion cell layer of the human hair follicle
Calretinin identifies the companion cell layer in human hair follicles.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research RETRACTED ARTICLE: Up-regulated lncRNA5322 elevates MAPK1 to enhance proliferation of hair follicle stem cells as a ceRNA of microRNA-19b-3p
A specific RNA increases hair stem cell growth and skin healing by affecting a protein through interaction with a microRNA.
research Hdac1 and Hdac2 regulate the quiescent state and survival of hair-follicle mesenchymal niche
Hdac1 and Hdac2 help maintain and protect the cells that control hair growth.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research 409 ANDROGEN RECEPTOR GENE POLYMORPHISM (SNP RS6152) – ITS RELATIONSHIP TO ANDROGEN-SENSITIVE GENES EXPRESSION IN BENIGN PROSTATIC HYPERPLASIA, CARCINOMA OF THE PROSTATE AND ANDROGENETIC ALOPECIA
Gene variation affects prostate issues and hair loss.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Progressive Hair Loss and Myocardial Degeneration in Rough Coat Mice: Reduced Lysyl Oxidase-Like (LOXL) in the Skin and Heart
The gene causing hair loss and heart issues in rough coat mice is still unknown.
research Increased calcidiol level in redhaired people: Could redheadedness be an adaptation to temperate climate?
Redheaded people have higher levels of a vitamin D precursor, suggesting red hair may be an adaptation for better vitamin D synthesis in areas with less sunlight.
research Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche
Hair growth-related cells need the enzyme SCD1 to help maintain the area that supports hair growth.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research 1393 Human TMEM2 is not a hyaluronidase but a regulator of hyaluronan metabolism
Human TMEM2 does not break down hyaluronan but helps control its metabolism.
research Novel recombinant R-spondin1 promotes hair regeneration by targeting the Wnt/β-catenin signaling pathway
rRSPO1 protein boosts hair growth by activating a key signaling pathway.
research Gsdma3 is required for hair follicle differentiation in mice
The Gsdma3 gene is essential for normal hair development in mice.
research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Roles of Type 10 17beta-Hydroxysteroid Dehydrogenase in Intracrinology and Metabolism of Isoleucine and Fatty Acids
This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.