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MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.

A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.

CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.

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

Intermediate filaments are crucial for cell differentiation and stem cell function.

AE can have varied symptoms and genetic causes, but zinc therapy helps.

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.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

Understanding wool keratin-associated proteins in sheep can help improve wool quality through selective breeding.

Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.

Understanding how DHT works is important for diagnosing and treating hormone-related disorders.

The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.

Different types of cells in the eye express specific keratins at various stages of development.

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.

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

The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.

A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.

The Hedgehog Signaling Pathway is important for skin and hair development and skin cancer treatment, but more research is needed to understand it fully.

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.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.

The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.

Researchers created a skin graft that senses blood glucose and could treat diabetes using CRISPR-edited stem cells.

Found new possible treatments for hair loss.

The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.

Some people with primary cicatricial alopecia also have inflammatory bowel disease, suggesting a possible connection.

The PDGF/PDGFR pathway is a potential drug target with mixed success in treating various diseases, including some cancers and fibrosis.