research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
Search
for
Sort by
Research
150-180 / 1000+ results 
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Effects of different concentrations of androgens on KAP24.1 gene expression in Hetian sheep and Karakul sheep
Different androgen concentrations affect wool-related gene expression differently in Hetian and Karakul sheep breeds.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research 555 Dermal single-cell atlas: a novel tool to explore fibroblast heterogeneity
A new tool helps study hair follicle cells to develop better treatments for hair disorders.
research Dermal fibroblasts: the terminology, heterogeneity of subpopulations and common properties
Dermal fibroblasts have at least three distinct types, each with unique roles in skin structure and hair development.
research Author response: Sphingosine 1-phosphate-regulated transcriptomes in heterogenous arterial and lymphatic endothelium of the aorta
Sphingosine 1-phosphate affects inflammation and gene expression in different aorta cells.
research Decision letter: Sphingosine 1-phosphate-regulated transcriptomes in heterogenous arterial and lymphatic endothelium of the aorta
S1PR1 helps control inflammation in blood vessel cells by affecting gene activity differently in various cell types and locations.
research Decision letter: A multi-scale model for hair follicles reveals heterogeneous domains driving rapid spatiotemporal hair growth patterning
Understanding hair follicle communication can help treat hair loss.
research Cells within the bulge region of mouse hair follicle transiently proliferate during early anagen: heterogeneity and functional differences of various hair cycles
Mouse hair follicle cells briefly grow during the early hair growth phase, showing that these cells are important for starting the hair cycle.
research Compartmentalized Epidermal Activation of β-Catenin Differentially Affects Lineage Reprogramming and Underlies Tumor Heterogeneity
Activating β-catenin in different skin stem cells causes various types of hair growth and skin tumors.
research Mechanism of TAp73 inhibition by ΔNp63 and structural basis of p63/p73 hetero-tetramerization
ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
research Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer
Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
research Design, Synthesis, and Optimization of Silver Nanoparticles Using anArtocarpus heterophyllusLam. Leaf Extract and Its Antibacterial Application
Silver nanoparticles made from jackfruit leaf extract are effective against bacteria and fungi.
research The promoted synthesis of minoxidil by magnetic nanoparticles of cobalt ferrite(CoFe2O4) as a heterogeneous reusable catalyst
Researchers made minoxidil efficiently using cobalt ferrite nanoparticles as a reusable catalyst.
research Outcomes of paediatric patients with chronic liver disease in early adulthood: A heterogeneous, but representative, regional cohort study
Young adults who had liver disease as children often experience significant health problems and frequently need transplants.
research Decision‐Making Regarding the Administration of Live Vaccines to Patients With a FOXN1 Heterozygous Missense Variant
Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
research An organ-on-a-chip approach for investigating root-environment interactions in heterogeneous conditions
The dfRootChip revealed how Arabidopsis roots adapt and grow in uneven conditions.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research A Case Series and Literature Review of Telogen Effluvium and Alopecia Universalis after the Administration of a Heterologous COVID-19 Vaccine Scheme
Some people experienced hair loss after COVID-19 vaccination, but it's very rare and vaccines' benefits are greater than this risk.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Growth of the Mouse Coat VII. Hair Cycles and Sebaceous Glands in Homozygous and Heterozygous Naked Mice
The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
research Biological and mechanical influence of three-dimensional microenvironment formed in microwell on multicellular spheroids composed of heterogeneous hair follicle stem cells
3D microenvironments in microwells improve hair follicle stem cell behavior and hair regeneration.
research Body dynamics, social meaning-making, and scale heterogeneity: re-considering contextualization cues and language as mixed-mode semiosis
Confinement in farrowing crates doesn't increase chronic stress in sows, but hair cortisol measurements may not reliably indicate stress due to hair growth variations.
research Frans van Gaal,Wat mij nou toch soms mankeert! Over de idealen, twijfels, en tweestrijd in het leven van Anton van den Ende (1910-2000), missionaris Nijmegen:Valkhof Pers ,2010 9789056252991
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Therapeutic Strategies to Target the Androgen Receptor
Therapies targeting the androgen receptor are being developed to treat prostate cancer and improve bone and muscle health.
research Optimization of menthol-loaded nanocapsules for skin application using the response surface methodology
Researchers created better skin-application menthol capsules that are stable, safe, and penetrate the skin quickly.