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A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

A genetic mutation in the LIPH gene causes hair loss and growth defects.

The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.

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.

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

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

Hidradenitis suppurativa might be a type of autoinflammatory skin disease.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.

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.

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.

The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.

The 14-3-3σ gene is essential for preventing hair loss.

Overexpression of HDGF in melanocytes does not cause cancer.

The gene therapy showed significant wound healing and was safe for treating severe RDEB.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

Minoxidil improved hair growth in a child with a rare genetic disorder.

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

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.

A mutation in the KRT82 gene is significantly associated with Alopecia Areata.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

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

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

Blocking the ATX-LPA pathway may improve insulin sensitivity and mitochondrial function in obesity.

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

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

Hairless protein affects hair follicle structure by regulating the Dlx3 gene.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.