Search

everythinglearnresearchcommunity

for

Search:↓

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

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

A specific gene mutation causes congenital hair loss.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.

The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

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

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

A genetic marker linked to a type of hair loss was found in most patients studied.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

CCL5 is important for the hair growth potential of human dermal papilla cells.

The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.

A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

New genetic mutations causing hair loss were found in a Chinese family.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

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

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

AL136131.3 slows hair growth by affecting energy processes in hair loss.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

A mutation in the KRTHB5 gene causes hair and nail issues.

Mutations in the KRT85 gene cause hair and nail problems.

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

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

The ethanol patch test reliably identifies ALDH phenotype.