research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
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630-660 / 1000+ results 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 The association of cytosine-adenine-guanine repeat polymorphism in the androgen receptor gene with nodulocystic acne in Egyptian patients
Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Determining the Relationship Among Cattle Genotype, Hair Coat Score, and Productivity Through the Investigation of Single Nucleotide Polymorphisms within Prolactin, Dopamine Receptor D2, and Melatonin Receptor 1A
research A novel actor in skin biology: the mineralocorticoid receptor
Blocking the mineralocorticoid receptor can help treat skin thinning caused by steroids.
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 Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men
A new gene, JMJD1C, may affect testosterone levels in men.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Amelioration by Copper Supplementation of Mutant Gene Effects in the Crinkled Mouse
Copper supplements during pregnancy improve survival and development in mutant mice.
research Unravelling the link between insulin resistance and androgen excess
AKR1C3 could be a treatment target for metabolic issues in PCOS.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Gene expression profiling suggests severe, extensive central centrifugal cicatricial alopecia may be both clinically and biologically distinct from limited disease subtypes
Severe CCCA may be biologically and clinically different from milder forms.
research Understanding Melanocyte Stem Cells for Disease Modeling and Regenerative Medicine Applications
Melanocyte stem cells are crucial for skin pigmentation and have potential in disease modeling and regenerative medicine.
research Transduction‐induced overexpression of Merkel cell T antigens in human hair follicles induces formation of pathological cell clusters with Merkel cell carcinoma‐like phenotype
Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research C‐reactive protein promotes adhesion of monocytes to endothelial cells via NADPH oxidase‐mediated oxidative stress
C-reactive protein helps monocytes stick to blood vessel cells by causing oxidative stress.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Alterations in Endogenous Retinoids with Acute UVB Exposure and in the Progression of Cutaneous Squamous Cell Carcinoma
UVB exposure affects retinoid metabolism, which is important for skin cancer progression and treatment.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Are STK11 polymorphisms a predictor of the response to metformin in polycystic ovarian syndrome?
STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
research Causal relationship between inflammatory cytokines and polycystic ovary syndrome: a bidirectional mendelian randomization study
Certain inflammatory factors may increase or decrease the risk of developing PCOS.
research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions
research Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled
Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
research scMC learns biological variation through the alignment of multiple single-cell genomics datasets
scMC effectively separates biological signals from technical noise in single-cell genomics data.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research Exploring differential gene expression and biomarker potential in systemic lupus erythematosus: a retrospective study
FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
research Polymorphism of Keratin Gene KRT71 and Its Relationship with Wool Properties in Gansu Alpine Fine-Wool Sheep
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.