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Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.

The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.

Patient-derived melanocytes can potentially treat vitiligo by restoring skin pigmentation.

Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.

Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.

The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.

The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.

Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.

Different stem cells have benefits and challenges for tissue repair, and more research is needed to find the best types for each use.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.

CCL5 is important for the hair growth potential of human dermal papilla cells.

Finasteride may improve sperm count in subfertile men with low sperm count.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.

Deleting the CRIF1 gene in mice disrupts skin and hair formation, certain proteins affect hair growth, a new compound may improve skin and hair health, blood cell-derived stem cells can create skin-like structures, and hair follicle stem cells come from embryonic cells needing specific signals for development.

Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.

Applying pseudoceramide improved skin and hair health.

Blood cells turned into stem cells can become skin cells similar to normal ones, potentially helping in skin therapies.

Stem cells can create hair follicles, potentially treating permanent hair loss, and healthy skin and hair depend on mitochondrial function and special fats.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

Conditions affecting sex development show that sexual diversity is a natural part of human variation.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

Skin-derived stem cells grow faster and are easier to obtain than hair follicle stem cells, but both can become various cell types.

Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.

The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.

Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.