Search

everythinglearnresearchcommunity

for

Search:↓

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.

PCFCL may have unrecognized subtypes and needs more research.

The B2 genes are crucial for hair growth in rats.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

Three new types of a skin blistering disease were found, caused by specific gene mutations.

Hidradenitis suppurativa might be a type of autoinflammatory skin disease.

BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Dopaminergic neurons in the gut have diverse subtypes with different neurotransmitter contents.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.

Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.

Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.