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The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

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

Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.

The HR protein's role as a repressor is essential for controlling hair growth.

Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.

Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

A child with a rare vitamin D-resistant condition improved with treatment.

Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.

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.

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

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.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

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

No effective treatment exists to stimulate hair growth in atrichia with papular lesions.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.

21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.