research Current evaluation of amenorrhea
Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
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research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Current evaluation of amenorrhea
Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Current evaluation of amenorrhea
Amenorrhea, or the absence of periods, should be evaluated by age 15 or within five years of early breast development, and is most commonly caused by conditions like polycystic ovary syndrome and hypothalamic amenorrhea.
research Establishment of keratinocyte cell lines from human hair follicles
Scientists created keratinocyte cell lines from human hair that can differentiate similarly to normal skin cells, offering a new way to study skin biology and diseases.
research Female pattern hair loss: beyond an androgenic aetiology?
Estrogen and prolactin may play bigger roles in female hair loss than previously thought.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Finasteride use in the male infertility population: effects on semen and hormonal parameters
Finasteride may improve sperm count in subfertile men with low sperm count.
research Polycystic Ovary Syndrome (PCOS) Presenting with Delayed Menarche and Clitoromegaly
PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
research Can Extra Adrenal Cortisol Secretion Occur in an Adrenalectomized Patient?
A patient produced cortisol after adrenalectomy, possibly due to residual tissue or other body parts making steroids.
research Tuberous sclerosis: Clinical findings in 57 patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
research Numerous faces of yellow dots
Yellow dots look different in various hair loss conditions and can help diagnose them.
research Dominant dystrophic epidermolysis bullosa: Seven familial cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
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 Molecular Genetics of Human Hair Diseases
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research In situ labeling of DNA reveals interindividual variation in nuclear DNA breakdown in hair and may be useful to predict success of forensic genotyping of hair
In situ DNA labeling in hair can help predict forensic DNA analysis success.
research Raman spectroscopy and electronic microscopy structural studies of Caucasian and Afro human hair
Hair treatments cause significant structural changes, especially with excessive heat, regardless of ethnicity.
research A study of female pattern hair loss
research Visualization of individual cell division history in complex tissues
The tool iCOUNT helps understand how stem cells divide and affect tissue development and repair.
research Improved two‐dimensional electrophoretic mapping of Japanese human hair proteins; application to curved and straight Japanese human hairs; and protein identification by MALDI MS and MS/MS quadrupole time‐of‐flight mass spectrometry
The study found that minor protein differences between curved and straight Japanese hair are unlikely to significantly affect hair structure.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Studies of Developing Human Hair Shaft Cells In Vitro
research Complete sequence of a hair-like intermediate filament type II keratin gene
KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
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 Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research Plucked human hair as a tissue in which to assess pharmacodynamic end points during drug development studies
Plucked human hair can be used to study drug effects on certain cell markers.