research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
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research Polycystic Ovary Syndrome Phenotypes and Infertility Treatment
Different PCOS types respond uniquely to infertility treatments, with some having lower pregnancy rates and higher risks of complications.
research Global Landscapes of Human Phenotypic Variation in Inherited Traits
Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Acquired Progressive Kinking of the Hair: A Narrative Review of the Androgen‐Dependent Phenotype
APKH in young males may signal early hair loss and needs early attention.
research Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women
Male relatives of women with PCOS show similar health issues, suggesting a male version of the condition.
research 0877 Activated wound phenotype and microbial dysbiosis are driven by AhR suppression in hidradenitis suppurativa tunnels
Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
research Genotypic and Phenotypic Study of PDCD4 gene Concerning micro RNA-21 and micro RNA-449b Polymorphism in Breast Cancer
PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
research FORENSIC DNA PHENOTYPING FOR CRIMINAL IDENTIFICATION
Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research POS0548 ACUTE AND SUBACUTE SKIN MANIFESTATIONS OF SYSTEMIC LUPUS ERYTHEMATOSUS ARE ASSOCIATED WITH AN EARLIER RESPONSE TO BELIMUMAB THAN THE CHRONIC PHENOTYPE: PRELIMINARY DATA FROM THE NEW NATION-WIDE COHORT OF BELIMUMAB IN REAL LIFE SETTING STUDY—NEW JOINT AND SKIN (BERLISS-NEJS)
Patients with acute and subacute skin lupus respond faster to belimumab than those with chronic skin lupus.
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.
research 203 Automated skin surface phenotype for melanoma risk assessment
An automated method accurately assesses melanoma risk using 3D body images to analyze skin traits.
research Analysis of the phenotypic variants of polycystic ovarian syndrome in women of reproductive age group
The most common form of PCOS in the group was anovulatory PCOS, with no cases of obese PCOS, highlighting the importance of assessing lean women with menstrual issues.
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research The alopecia areata phenotype is induced by the water avoidance stress test in cchcr1-deficient mice
Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
research Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype
A genetic change in the FGF5 gene affects hair growth in cashmere goats.
research Factors Driving Unique Urination Phenotypes of Male and Female 9-week-old C57BL/6J Mice
Testosterone significantly affects urination differences between male and female mice.
research 1430 Modeling the onset of senescence associated secretory phenotype predicts therapeutic targets
The research found that blocking a gene called NEMO can potentially prevent harmful effects of aging at the cellular level.
research Preservation of a specialized phenotype of dermal papilla cells of a human hair follicle under cultivation conditions
Specific conditions are needed to keep hair follicle cells effective for hair growth.
research Regulation of the metabolic phenotype of human hepatocytes by glucocorticoids and androgens
Glucocorticoids reduce fat production in liver cells, while androgens increase it in females; manipulating certain enzymes can influence these effects.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research Iron deficient toxic milk leads to the mask phenotype in hephaestin knockout mice (907.4)
Iron deficiency in mothers causes hair loss in their baby mice.
research Reimagining Hair Science: A New Approach to Classify Curly Hair Phenotypes via New Quantitative Geometric and Structural Mechanical Parameters
New methods can better classify curly hair types and lead to improved hair care products.
research Patient reported androgen driven phenotypes do not associate with biochemical recurrence after radical prostatectomy
Androgen-driven traits don't predict prostate cancer recurrence.
research 891 Comparison of phenotypes and transcriptomes of mouse skin-derived precursors and dermal mesenchymal stem cells
The search scheme SMRI is faster and more secure for retrieving encrypted data from the cloud.
research Prevalence of various phenotypes of polycystic ovarian syndrome among high school girls of Shiraz (2009)
Early investigation of PCOS in high school girls is necessary due to associated risks and side effects.
research Intermediate Hair Follicles from Patients with Female Pattern Hair Loss Are Associated with Nutrient Insufficiency and a Quiescent Metabolic Phenotype
Nutritional supplements may help improve hair growth in female pattern hair loss.
research The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.