research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
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180-210 / 1000+ resultsresearch Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research 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 877 Loss of UBE2N in keratinocytes leads to skin inflammation and immune infiltration through IRAK1/4-mediated processes
Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
research 3 alpha, 17 beta-androstanediol glucuronide in plasma. A marker of androgen action in idiopathic hirsutism.
High levels of 3 alpha-diol glucuronide in the blood are a marker of increased androgen action in women with excessive hair growth of unknown cause.
research The activin binding proteins follistatin and follistatin-related protein are differentially regulated in vitro and during cutaneous wound repair
FLRG and follistatin have different roles in wound healing.
research The compatibility of Bacillus thuringiensis Cry protein-solubilizing buffers with the droplet feeding method in fall armyworm larvae
Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
research Signaling from keratins
Keratin 17 is crucial for cell growth in wound healing by aiding protein synthesis.
research Vertex balding, plasma insulin-like growth factor 1, and insulin-like growth factor binding protein 3
Men with balding at age 45 had higher IGF-1 and lower IGFBP-3, suggesting these factors might be important in male pattern baldness.
research LPA3, a unique G protein-coupled receptor for lysophosphatidic acid
LPA3 is crucial for embryo implantation and links LPA to prostaglandin signaling.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research A pilot study on relationship between quantity of growth factors and cytokines to blood groups in umbilical cord blood-derived PRP
B blood type has the highest growth factors and cytokines in umbilical cord blood-derived PRP.
research Serum Interleukin 18 and NLRP3 in patients with Alopecia Areata
Patients with Alopecia Areata have higher levels of certain inflammatory markers.
research CtBP1 Overexpression in Keratinocytes Perturbs Skin Homeostasis
Overexpressing CtBP1 in skin cells causes skin and hair problems.
research Keratins 6, 16, and 17 in Health and Disease: A Summary of Recent Findings
Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.
research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease
BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
research Vertex balding, plasma insulin-like growth factor 1, and insulin-like growth factor binding protein 3
Men with balding at age 45 had higher IGF-1 and lower IGFBP-3 levels, suggesting these factors might influence male pattern baldness.
research S100A6: molecular function and biomarker role
S100A6 is important for cell functions and can help diagnose and treat diseases.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research Endothelial NMMHC IIA dissociation from PAR1 activates the CREB3/ARF4 signaling in thrombin-mediated intracerebral hemorrhage
Targeting NMMHC IIA may help treat blood-brain barrier damage.
research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle
research 322 Upregulation of SERPINB3/B4 and S100A7-9 in hidradenitis suppurativa/acne inversa
Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research miR-3606-3p alleviates skin fibrosis by integratively suppressing the integrin/FAK, p-AKT/p-ERK, and TGF-β signaling cascades
miR-3606-3p reduces skin fibrosis by blocking key signaling pathways.
research Genetic alteration of cyclic adenosine 3',5'-monophosphate-dependent protein kinase subunit expression affects calcium currents and beta-endorphin release in AtT-20 clonal pituitary cells.
Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Keratin 16 Expression Defines a Subset of Epithelial Cells During Skin Morphogenesis and the Hair Cycle
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.