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Fibrinogen/LDL apheresis may improve speech perception in sudden hearing loss, especially for those with high fibrinogen and LDL levels.

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

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

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

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

Lhx2 helps retinal cells respond to signals for eye development.

An 87-year-old man showed unusual signs of Hodgkin lymphoma, primarily high calcium levels, which improved after treatment and revealed the disease.

Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.

The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.

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.

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

A man had two rare autoimmune diseases that might be connected.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

People with lichen planus are more likely to have abnormal blood fats than healthy people.

A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.

A vitamin D receptor mutation causes rickets and affects immune responses.

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

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 mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

Higher HDAC1 levels in alopecia areata suggest HDAC inhibitors might help treat it and acne.

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

High levels of 3 alpha-diol glucuronide in the blood are a marker of increased androgen action in women with excessive hair growth of unknown cause.

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.

Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.

The gene HDC is important for the development of hair follicles in newborn mice.

The 2012 criteria are better for diagnosing atypical lupus cases.

Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.