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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.

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

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

A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.

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

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

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

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

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

The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.

Golden oyster mushroom extract may protect skin cells from aging by its antioxidant properties.

Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.

Netherton Syndrome can cause severe skin lesions in rare cases.

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.

Certain skin proteins can form anchoring structures without the protein AMACO.

Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.

Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.

Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

KCNQ potassium channels help control the sensitivity of touch receptors in the skin.

New treatments for immune disorders caused by FOXN1 deficiency are promising.

Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.

The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.

A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.

A new gene variant causes glucocorticoid resistance in a mother and son.

Loss of keratin K2 causes skin problems and inflammation.