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

The new rodent model successfully mimics non-lean human PCOS symptoms.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Women with only irregular periods or excess hair have a better hormone profile than those with full PCOS, but both groups are similar, indicating a need for better PCOS diagnosis methods.

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

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

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

Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.

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

Ichthyoses are genetic skin disorders that affect the skin's barrier function.

Classical PCOS types A and B are most common and linked to higher health risks.

FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.

Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.

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

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

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

PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.

The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.

Gene differences may affect baldness treatment response in Korean men.

The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.

New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.

The document concludes that anti-dsDNA antibodies are not unique to SLE and their use as indicators is doubtful, highlighting the need for better understanding and classification of the disease.

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.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

Japanese cases of fibrosing alopecia show a unique age and hair loss pattern, possibly due to racial differences.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A new gene mutation causes insulin resistance in a girl and her mother.

The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.

A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.

Multi-omics techniques help understand the molecular causes of androgenetic alopecia.