research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
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330-360 / 1000+ results research Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Skin regional specification and higher-order HoxC regulation
A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
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 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research The Role of Pannexin 3 in Bone Biology
Pannexin 3 is important for bone formation and the development of bone cells.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Gene profile analysis of colorectal cancer cell lines by cDNA macroarray
Colorectal cancer's ability to spread is due to changes in many genes, not just one.
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.
research CD271 orchestrates skin structure, differentiation, and inflammation via PI3K/Akt and PKCα/ERK pathways
CD271 is crucial for maintaining healthy skin and preventing inflammation.
research Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms
Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
research CLK1 and its Effects on Skin Stem Cell Differentiation
CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
research CD44/TRPV1 dual-targeted nanocarrier enables drug retention and multidimensional therapy for inflammatory skin diseases
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes
Ectodysplasin inhibits Wnt signaling to help form hair follicles.
research Pharmacological Inhibition of Stearoyl CoA Desaturase in the Skin Induces Atrophy of the Sebaceous Glands
Blocking SCD1 in the skin with XEN103 shrinks sebaceous glands in mice.
research CD123 immunohistochemistry for plasmacytoid dendritic cells is useful in the diagnosis of scarring alopecia
Using CD123 to detect certain immune cells helps diagnose a type of hair loss condition.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Characterization of a Test for Invasive Breast Cancer Using X-ray Diffraction of Hair—Results of a Clinical Trial
Combining hair x-ray diffraction with mammography improves breast cancer detection.
research A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles
A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research QuantAnts machines discover biomarkers for RAS signaling activation and design sgRNAs for CRISPR to target complex CD9, CD34, and CD74.
The QuantAnts machines can find cancer markers and create CRISPR targets for them.
research Dysmorphic Concern Questionnaire: Greek Translation, Validation and Psychometric Properties
The Greek DCQ is a reliable and valid tool for assessing dysmorphic concern.
research Squamous epithelial proliferation induced by walleye dermal sarcoma retrovirus cyclin in transgenic mice
The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
research 0034 Cross-species insights into hair follicle-T cell interactions in discoid lupus erythematosus: A comparison of human, canine and mouse models using spatial transcriptomics
Discoid lupus erythematosus involves immune activation and fibrosis around hair follicles, with shared pathways across humans, dogs, and mice, suggesting potential treatments for both humans and animals.
research New insights into the functions of Cox-2 in skin and esophageal malignancies
Cox-2 significantly contributes to the development and progression of skin and esophageal cancers.
research BC05 Technological and clinical demonstration of a skin ageing analysis prototype
The prototype for analyzing skin aging works technically and clinically.