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ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.

Understanding genetics is crucial for treating heart and skin diseases.

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

Mutations in certain receptors can cause diseases and offer new treatment options.

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.

K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.

Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.

Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.

New markers and pathways have been found in skin tumors, helping better understand and diagnose them.

Faulty inflammasome activation may lead to autoimmune skin diseases and could be a target for new treatments.

TCDD speeds up skin barrier formation by increasing certain gene expressions.

Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.

Melatonin directly affects mouse hair follicles and may influence hair growth.

Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

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

Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.

A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.

The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.

Overactive Wnt signaling in mouse skin stem cells causes acne-like cysts and shrinking oil glands, which some treatments can partially fix.

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

Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.

Blocking the prolactin receptor might help treat various diseases, but more research is needed.

A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.

Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.

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

Mouse zigzag hair bends form due to a 3-day cycle of changes in hair progenitors and their environment.

Using old drugs for new uses can help treat rare immune deficiencies.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.