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A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.

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

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.

Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.

A man with KID syndrome developed a rare cancer in a long-term skin infection.

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.

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.

The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

Vitamin D receptor is crucial for bone health and mineral metabolism.

A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.

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

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

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

The mutation helps mice handle heat better without affecting hair growth.

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.

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

Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.

The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.

Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.

Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.

Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.