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Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

Cats with abnormal hair had DSG4 gene changes causing hair problems.

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

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

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

Genetic mutations can affect female sexual development, requiring personalized medical care.

A gene deletion causes the "hairless" trait in Iffa Credo rats.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

Environmental factors can cause mutations in skin proteins, leading to skin disorders.

Desmoglein 4 is controlled by specific proteins that affect hair growth.

Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.

Cantú syndrome is caused by mutations in the ABCC9 gene.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.

FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.