Search

everythinglearnresearchcommunity

for

Search:↓

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 boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.

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.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

A gene mutation causes woolly hair in a Syrian patient.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

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

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

β-catenin is essential for stem cell activation and proliferation in hair follicles.

Understanding where cancer cells come from helps create better prevention and treatment methods.

AXR3 and SHY2 genes control the growth and timing of root hair development in plants.

Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.

Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.

The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

A gene mutation in mice causes permanent hair loss and skin issues.

Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.

Lack of cystatin M/E causes thin hair and dry skin.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

SGK3 is essential for proper hair growth and health.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

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