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Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

KLHL24-mutant stem cells help understand skin and heart disease.

Early diagnosis and treatment of TPP can prevent complications.

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

Valproate can cause brain swelling with high ammonia levels, possibly underreported, especially in psychiatric patients.

Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.

Excessive vitamin A can cause symptoms that mimic serious brain conditions.

A woman's shingles infection triggered her first episode of a rare neurological disorder and blood vessel inflammation.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

A man developed severe skin reactions after using a treatment for hair loss.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

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

A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.

Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.

Finasteride effectively and safely treats recurrent priapism in children and adolescents with sickle cell disease.

A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

Most patients with dermatomyositis had skin rash and were treated with prednisolone and hydroxychloroquine.

Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.

Diphenylcyclopropenone is effective and safe for treating severe alopecia areata in children, with maintenance therapy reducing relapse risk.