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Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.

Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.

Some early COVID-19 mutations in patients predicted future common virus mutations.

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

Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.

A new gene mutation linked to a skin condition was found in a Spanish family.

Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.

A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.

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

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.

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.

Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.

Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.

Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.

Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

A male with aromatase deficiency improved bone health with estradiol treatment.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.