research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
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540-570 / 1000+ resultsresearch Inheritance-Specific Dysregulation of Th1- and Th17-Associated Cytokines in Alopecia Areata
Certain immune-related proteins are higher in people with alopecia and their healthy relatives, hinting at a genetic link.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Expression and Activity Assay of Human Steroid 5 Alpha-Reductase Type II in CHO Cells
Finasteride effectively inhibits the enzyme steroid 5 alpha-reductase II.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Dickkopf-1 Expression in Androgenetic Alopecia and Alopecia Areata in Male Patients
DKK-1 gene linked to hair loss in AGA and AA patients; more research needed for potential therapy.
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 mRNA Levels of Aromatase, 5α-Reductase Isozymes, and Prostate Cancer-Related Genes in Plucked Hair from Young Men with Androgenic Alopecia
Men with early balding showed higher levels of certain genes linked to hair loss and possibly prostate cancer.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Arabidopsis ADF8 and ADF11 contribute to root hair growth to respond to hormone and environmental signals
ADF8 and ADF11 help root hairs grow by responding to hormones and environmental signals.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research 457 Impact of alpha-melanocyte-stimulating hormone on mitochondrial function in human dermal fibroblasts
Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
research Characterization of recombinant human liver dehydroepiandrosterone sulfotransferase with minoxidil as the substrate
Human liver enzyme DHEA ST helps process minoxidil.
research Expression pattern of human hair keratin basic 1 (hHbl) in hair follicle and pilomatricoma
hHbl gene is active in hair shaft cells and some pilomatricomas.
research Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor†
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research GTL1 is required for a robust root hair growth response to avoid nutrient overloading
GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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 11β-Hydroxysteroid dehydrogenase type 1 inhibitors for the treatment of type 2 diabetes
Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
research Serum interleukin-37 and its gene polymorphism (rs3811047) in Egyptian patients with alopecia areata
Higher IL-37 levels are linked to more severe alopecia areata, but the gene variation doesn't affect disease risk.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia
Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
research Serum Level of Programmed Death Ligand1 in Alopecia Areata Patients in Relation to Disease Severity
Higher levels of PD-L1 are linked to more severe hair loss in people with Alopecia Areata.
research MiR‐200c‐3p as a novel genetic marker and therapeutic tool for alopecia areata
miR-200c-3p could help diagnose and treat alopecia areata.