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Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

sPLA2-X is crucial for normal hair growth and follicle health.

Genetic variations greatly affect individual metabolism and can impact health and disease risk.

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

The document talks about hard-to-treat and rare acne types, their connection with other health issues, the importance of correct diagnosis, and the challenges in managing them.

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

Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

Environmental factors can cause mutations in skin proteins, leading to skin disorders.

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.

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

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.

CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.

CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.

Researchers made a mouse model with curly hair and hair loss by editing a gene.

Protein profiling of forehead skin can help distinguish between frontal fibrosing alopecia and androgenetic alopecia.

TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

Alopecia areata is an autoimmune disease where T cells attack hair follicles.

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

Human hair proteins vary by individual, body site, and ethnicity, useful for forensics.

Notch signaling disruptions can cause various skin diseases.

English springer spaniels are more prone to severe sebaceous adenitis than standard poodles.

Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.

All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.

Transglutaminase activity is important for skin and is found in both mammals and birds.

Polycystic ovary syndrome and iron overload share similar symptoms and can be potentially treated with blood removal, diet changes, and probiotics.

People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.