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A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.

A baby with KID syndrome died from infections and organ failure at 18 months old.

The gene Prss53 affects hair shape and bone development in rabbits.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.

Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.

Cantú syndrome is caused by mutations in the ABCC9 gene.

A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.

ESR2 gene linked to female-pattern hair loss.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.

Gene variant linked to prostate cancer, hormone levels, and hair loss.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.

Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.

Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.

Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.

Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.

Tsukushi helps control inflammation and aids in wound healing.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.