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A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.

The Itpr3 gene causes a specific hair pattern in mice.

A new gene mutation linked to a skin condition was found in a Spanish family.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.

Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.

Dynlt3 is important for melanosome transport and skin coloration.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.

Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.

Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.

A truncated protein linked to breast cancer may change cell adhesion.

CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.

A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.