Search

everythinglearnresearchcommunity

for

Search:↓

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

A mutation in the Sgkl gene causes defective hair growth in mice.

SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.

A specific gene mutation causes long hair in Angora rabbits.

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.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.

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

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

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

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

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

A gene mutation causes monilethrix in a Chinese family.

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.