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

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.

Azathioprine can cause severe blood issues and hair loss, needing careful monitoring and possible discontinuation.

Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.

The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.

Notch signaling disruptions can cause various skin diseases.

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

A gene mutation in Lama3 is linked to a common type of hair loss.

Explosions don't stop hair proteins from being used to identify people.

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.

Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

Genetic variations affect dutasteride treatment response for male pattern hair loss.

Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

Cantú syndrome is caused by mutations in the ABCC9 gene.

The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.

Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.

The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.

The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.

The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.

Keratins are crucial for cell structure, growth, and disease risk.

Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.

FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.

Notch-related genes play a key role in the development and cycling of hair follicles.

With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.

FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.