research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
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research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.
research MALDI Imaging Mass Spectrometry of Skin: Aspects of Sample Preparation
MALDI Imaging Mass Spectrometry is a useful method for studying skin conditions, but sample preparation is crucial for accurate results.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Defining the Identity of Mouse Embryonic Dermal Fibroblasts
Researchers identified specific genes that are important for mouse skin cell development and healing.
research Study on the Zona Pellucida 4 (ZP4) Gene Sequence and Its Expression in the Ovaries of Patients with Polycystic Ovary Syndrome
The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.
research Vitamin D Activates Type A Natriuretic Peptide Receptor Gene Transcription in Inner Medullary Collecting Duct Cells
Vitamin D boosts a specific gene activity in kidney cells that could improve heart and kidney function.
research Variant 1859G→A (Arg620Gln) of the Hairless Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Lineage Tracing of Hair Follicle Stem Cells in Epidermal Whole Mounts
The method allows for 3D tracking of hair follicle stem cells and shows they can regenerate hair for up to 180 days.
research Deficiency in Nucleotide Excision Repair Family Gene Activity, Especially ERCC3, Is Associated with Non-Pigmented Hair Fiber Growth
Low ERCC3 gene activity is linked to non-pigmented hair growth.
research First Symposium on Natural Gene Therapy of the Skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/- Mice
Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
research Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
research Genotoxicity of Rice Bran Oil Extracted by Supercritical CO2 Extraction
Rice bran oil extracted by supercritical CO2 is considered non-genotoxic.
research Evaluation of Biophysical Skin Parameters and Hair Changes in Patients with Acne Vulgaris Treated with Isotretinoin, and the Effect of Biotin Use on These Parameters
Biotin supplementation during isotretinoin treatment for acne may help maintain skin hydration and improve hair growth.
research Computational Derivation of a Molecular Framework for Hair Follicle Biology from Disease Genes
The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.
research Metformin or Thiazolidinedione Therapy in Polycystic Ovary Syndrome?
Metformin and thiazolidinediones are similarly effective for PCOS, but metformin is often preferred due to fewer side effects.
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.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Cardiac Biopsy in Myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Buschke-Ollendorff Syndrome: Clinical Features and Genetic Insights
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Epidermal Growth Factor Receptor Mutant T790M-L858R-V948R Inhibitor from Calophyllum Inophyllum L. Leaf as Potential Non-Small Cell Lung Cancer Drugs
A compound from Calophyllum inophyllum L. leaf may help treat non-small cell lung cancer.
research Ton1 Recruiting Motif 21 Positively Regulates the Flavonoid Metabolic Pathway at the Translational Level in Arabidopsis Thaliana
TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Salt-Losing Tubulopathy and Chronic Dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Dermal Wnt/β-Catenin Activation Tunably Controls Hair Follicle Initiation
Activating Wnt in skin cells controls the number of hair follicles by directing cell movement and fate.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.