research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
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 Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome
There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
research Left ventricular myocardial mass index and its correlates as an early marker of cardiovascular risk among nonobese normotensive Indian women with polycystic ovary syndrome: lessons from a cross-sectional study
Nonobese, normotensive Indian women with PCOS may have a higher risk of heart problems linked to inflammation and insulin resistance.
research Comparison of mathematical indices of insulin resistance for clinical application in the four phenotypes of polycystic ovarian syndrome
Insulin resistance varies among PCOS types, and simple math tools can help identify it early.
research Deep phenotyping of skin tissue remodeling in patients with systemic sclerosis treated with CD19-CAR T cells
CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.
research Learning from nudity: lessons from the nude phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
research Madarosis: A marker of many Maladies
Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research LRIG1 is a positive prognostic marker in Merkel cell carcinoma and Merkel cell carcinoma expresses epithelial stem cell markers
LRIG1 is linked to better survival in Merkel cell carcinoma.
research Markers of peripheral androgen action in vivo and in vitro
Dihydrotestosterone (DHT) is crucial for conditions like male-pattern baldness and acne, and measuring a byproduct, androstanediol glucuronide, is a better way to assess DHT's effects than DHT blood levels.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype
HuR is essential for Treg function and preventing autoimmunity.
research Forensic DNA phenotyping: the need for proportionate regulation and judicial clarity in law enforcement
Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
research Perspectives of Alopecia behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research Integrative skin phenotypic and transcriptomic analyses reveal candidate genes for coat color and fiber length in four Chinese goat breeds (Capra hircus)
Genes linked to coat color and fiber length in Chinese goats were identified.
research Comparing classic and newer phenotypes in Greek PCOS women: the prevalence of metabolic syndrome and their association with insulin resistance.
Greek women with classic PCOS are more likely to have metabolic syndrome and insulin resistance than those with newer PCOS types.
research Markers to Evaluate the Quality and Self-Renewing Potential of Engineered Human Skin Substitutes In Vitro and after Transplantation
Cytokeratin 19 and cytokeratin 15 are key markers for monitoring the quality and self-renewing potential of engineered skin.
research A Simple Screening Approach for Assessing Community Prevalence and Phenotype of Polycystic Ovary Syndrome in a Semiurban Population in Sri Lanka
A simple screening method found that 6.3% of women in a semiurban area in Sri Lanka have polycystic ovary syndrome, with most showing menstrual irregularities.
research Stem cell markers (cytokeratin 15, CD34 and nestin) in primary scarring and nonscarring alopecia
Scarring alopecia affects different hair follicle stem cells than nonscarring alopecia, and the infundibular region could be a new treatment target.
research Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs
Researchers found two genes that may explain why some Casertana pigs don't have hair.
research Helpful diagnostic markers of steroidogenesis for defining hyperandrogenemia in hirsute women
The study concluded that androstendione and DHEA are important for diagnosing high male hormone levels in women with excessive hair growth.
research Marked Reduction of the Number and Individual Volume of Sebaceous Glands in Psoriatic Lesions
Psoriasis lesions have fewer and smaller oil glands, which might affect the condition's development.
research Distinct expression profile of stem cell markers, LGR5 and LGR6, in basaloid skin tumors
LGR5 and LGR6 are expressed differently in various skin tumors, which may offer clues about their origins.
research Assessment of markers expressed in human hair follicles according to different skin regions
Different body parts have varying levels of certain hair follicle markers.
research Cardiovascular risk markers and thyroid status in young Indian women with polycystic ovarian syndrome: A case-control study
Young Indian women with PCOS have a higher risk of heart disease, not linked to thyroid function but to higher levels of certain fats and homocysteine.