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Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Robotic hair transplantation with AI offers more reliable, precise, and efficient hair restoration.

Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.

A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.

Scientists can now create skin with hair by reprogramming cells in wounds.

Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.

Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

Wild African goats have genetic adaptations for surviving harsh desert conditions.

The document is a detailed medical reference on skin and genetic disorders.

A mother and daughter have a rare genetic hair loss disorder with no effective treatment.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

Scientists found a new method using 3D cell cultures to grow human hair which may improve hair restoration treatments.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

5% topical minoxidil improves hair density and quality in monilethrix patients.

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.

5% topical minoxidil improves hair density and quality in monilethrix patients.

Cantú syndrome is caused by mutations in the ABCC9 gene.

Autofluorescence can sort plant cells without labeling.

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.