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Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

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

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

Cantú syndrome is caused by mutations in the ABCC9 gene.

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

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

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

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

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

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

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

Researchers found a new mutation causing total hair loss from birth.

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

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

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

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

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.

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

The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.

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

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.

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

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

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

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

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

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.