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An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.

GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.

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

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.

Whale genes show changes that help them live in water, like less hair and better flippers.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.

ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

CD8A and FOXD2-AS1 may be key for diagnosing and treating alopecia areata.

High levels of ODC and a mutant Ha-ras gene cause tumors in mice.

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

Certain genetic markers can indicate a person's risk of developing prostate cancer.

Nelfb is essential for dermal fat development and survival.

Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.

Syndecan-1 is essential for maintaining skin fat and preventing cold stress.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

Colorectal cancer's ability to spread is due to changes in many genes, not just one.

The FTO gene hinders stem cells in hair follicles from becoming pigment cells.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

Allergic contact dermatitis may promote hair growth by activating hair follicle stem cells.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.