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

Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.

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

A specific gene mutation causes long hair in Angora rabbits.

Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.

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

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.

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

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

Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.

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

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

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

Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.

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

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.

Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

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 in the HR gene causing hair loss and skin bumps in a Pakistani family.

People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.

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.

The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.

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

Mice are useful for researching human hair loss and testing treatments, despite some differences between species.

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

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.