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A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

Longer CAG repeats in gene linked to more severe hair loss in females.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

Mutations in specific genes cause different types of ectodermal dysplasias.

The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.

A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.

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

The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.

Neurotrophin-4 increases calcium current in specific mouse neurons through the PI3K pathway.

An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

Copper supplements during pregnancy improve survival and development in mutant mice.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

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

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.

Cathepsin L deficiency causes hair and skin issues in mice.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.

Some HIV treatments can harm mitochondria, potentially causing side effects like lactic acidosis and nerve damage.

A gene deletion causes the "hairless" trait in Iffa Credo rats.

The N gene affects the protein makeup of mouse hair.

A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.

CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.

PLDζ2 and NPC4 have different roles in lipid changes and root hair growth in Arabidopsis under low phosphate, with PLDζ2 reducing root hair growth and NPC4 promoting it.