research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
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900-930 / 1000+ results research Expression of MK6a dominant-negative and C-terminal mutant transgenes in mice has distinct phenotypic consequences in the epidermis and hair follicle
Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS
The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
research 卵巣摘出術が毛髪の成長に与える影響を探る : 卵巣摘出マウスはヒトの女性型脱毛症を研究するためのモデルとなるか?
Ovariectomy in mice affects hair growth and skin thickness, suggesting potential for obesity treatment research.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Polycystic Ovary Syndrome (PCOS) and Fertility
PCOS affects fertility and is linked to obesity and menstrual irregularities; lifestyle changes are recommended for treatment.
research Mécanismes moléculaires et cellulaires des processus de différenciation et de plasticité cellulaire pour la formation des adipocytes
EGM2 and SOX2 help form beige adipocytes by maintaining ASC immaturity and activating brown adipocytes.
research A Prospective Study of the Prevalence of the Polycystic Ovary Syndrome in Unselected Caucasian Women from Spain
About 6.5% of young Caucasian women in Spain have polycystic ovary syndrome.
research Approach to the Patient: Diagnostic Challenges in the Work Up for Polycystic Ovary Syndrome
Diagnosing PCOS is challenging due to its complex and varied symptoms.
research Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women
Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
research Majocchi’s Granuloma – The Great Mimicker: A Case Report
Majocchi’s granuloma should be considered when rashes don't improve with typical treatments.
research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research When whorls collide: the development of hair patterns in frizzled 6 mutant mice
Hair follicles in mutant mice self-organize into ordered patterns within a week.
research Prevalence of Type II diabetes mellitus and insulin resistance in parents of women with polycystic ovary syndrome
Parents of women with PCOS have a higher risk of Type II diabetes and insulin resistance, especially fathers.
research FROM PATHOPHYSIOLOGY TO POTENTIAL INTERVENTIONS: INVESTIGATING THE INTRICATE DYNAMICS OF POLYCYSTIC OVARY SYNDROME, AGING, AND FERTILITY
PCOS, aging, and fertility are linked by hormonal and metabolic issues, with lifestyle changes and treatments offering potential help.
research Genetic basis of polycystic ovary syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Hyperandrogenism and insulin resistance modulate gravid uterine and placental ferroptosis in PCOS-like rats
Hyperandrogenism and insulin resistance in PCOS-like rats can lead to pregnancy complications due to increased cell death in the uterus and placenta.
research Management of neonates and children with male pseudohermaphroditism
Individuals with male pseudohermaphroditism often do better raised as females with early surgery.
research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.