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The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.

A child with a rare vitamin D-resistant condition improved with treatment.

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.

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

Eyelid cells share signaling components but differ in pathway activity.

Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.

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

Studying rare genetic disorders can help us understand and treat common diseases better.

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

Cell adhesion molecules are important in the development of certain skin diseases.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

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.

Keratin 79 is linked to liver damage and may help diagnose liver diseases.

Myc activation reduces skin stem cells by affecting cell adhesion.

FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.

Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.

Certain bacteria from the Citrullus colocynthis plant may be a new source of antibiotics to fight drug-resistant diseases.

Alopecia areata is an autoimmune disease with genetic links, treatable with certain medications, and can affect mental health.

Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.

Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

Notch signaling disruptions can cause various skin diseases.

cDermo-1 causes dense skin, feathers, and scales in chickens.

Genetic discoveries are leading to new treatments for alopecia areata.

Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.

EGCG may help treat alopecia areata by blocking certain immune responses and reducing specific harmful immune cells.

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.