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The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

Monilethrix is linked to the type II keratin gene on chromosome 12q13.

Somatic BHD mutations are rare in Japanese renal tumors.

Basonuclin may help control ribosomal RNA gene activity in skin cells.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

mrp/plf-mRNA can indicate tumor-promoting effects in skin.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.

The IBHRS is now operational.

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

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

Strontium ranelate helps cartilage growth by blocking a specific cell pathway.

Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.

Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.

CLK1 is needed for skin cells to become epidermal cells but not sebocytes.

The protein FLCN is involved in cellular cleanup and is regulated by ULK1.

Gene knockout mice developed scars similar to human hypertrophic scars, useful for studying scar progression.

Strontium ranelate helps cartilage growth by blocking a specific cell pathway.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

The hair disorder was caused by abnormal protein formation, making hair easily damaged.

Double-stranded RNA helps regenerate hair follicles by increasing retinoic acid production and signaling.

Topical tacalcitol can treat psoriasis by acting directly on skin cells.

Hormone replacement therapy may lower the risk of severe COVID-19 outcomes in non-immunosuppressed people and male organ transplant recipients.

Researchers converted human embryonic stem cells into trophoblast stem cells using specific transcription factors.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

TNF alpha in skin cells causes weight loss, hair and fat issues, and skin inflammation in mice.

Interferon α‐2b can temporarily reduce hepatitis C virus and normalize liver enzyme levels.

A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.