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A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

Different PIN proteins affect plant root hair growth by changing how auxin is transported.

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

SHISA6 helps maintain certain stem cells in mouse testes by blocking signals that would otherwise cause them to differentiate.

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.

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

Whale genes show changes that help them live in water, like less hair and better flippers.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.

Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.

Different light affects cell functions and can help treat skin conditions.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.

A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.

New genetic mutations linked to rare skin disorders were found in three newborns.

Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.

Some women with PCOS have rare genetic variants linked to the condition.

Maintaining DNA integrity in stem cells is crucial to prevent aging and cancer.

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

The oncoprotein causes abnormal hair growth without increasing skin cancer risk.

The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.

A gene mutation in Lama3 is linked to a common type of hair loss.