research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
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5 / 1000+ results research A Novel Nonsense Mutation in the STS Gene in a Pakistani Family with X-Linked Recessive Ichthyosis: Including a Very Rare Case of Two Homozygous Female Patients
This study investigated a large Pakistani family with 16 individuals affected by X-linked ichthyosis (XLI), including a rare occurrence of two homozygous female patients. The research identified a novel hemizygous nonsense mutation (c.287G > A; p.W96*) in exon 4 of the STS gene in all affected males, while the two affected females were homozygous for this mutation. Clinical manifestations included generalized dryness and scaling of the skin, with no extracutaneous features observed. The findings contributed to understanding the genetic basis of XLI, expanded the known mutational spectrum of the STS gene, and aided in the diagnosis of female carriers, providing valuable information for genetic counseling.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Substrate Specific Sulfatase Activity from Hair Follicles in Recessive X-Linked Ichthyosis
Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
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5 / 656 resultscommunity Hair loss and ethnicity - Caucasian men the most likely to experience hair loss
The conversation discusses how Caucasian men are more likely to experience hair loss due to genetic predisposition, with factors like the androgen receptor on the X chromosome playing a significant role. The user also expresses confusion about the evolutionary reasons for hair loss, especially in colder climates where it would seem beneficial to retain hair for warmth.
community Why do we have head hair in first place if we evolved to start losing it in some cases as soon as puberty hits
Hair loss is influenced by genetics and sensitivity to hormones like DHT. Treatments like Minoxidil and finasteride are commonly used, and baldness persists as it doesn't affect reproductive success.
community In my opinion baldness is more prevalent now and it's being ignored..
The conversation is about the prevalence of baldness among young men and the potential factors contributing to it. Specific treatments mentioned include minoxidil and finasteride.
community Balding while your father has a full head of hair must suck
Unexpected hair loss despite family members having full hair. Treatments include finasteride, minoxidil, and dutasteride.
community Why balding gets worse in every generation?
Balding seems to worsen with each generation, possibly due to stress, diet, and environmental factors. The user started treatments like Minoxidil and finasteride.