Search

everythingexperts & clinicslearnresearchcommunity

for

Search:↓

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

A specific gene mutation causes sparse, brittle hair in a family.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Researchers found a new mutation causing total hair loss from birth.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

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.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

A specific gene mutation causes different hair defects in Indian monilethrix families.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

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

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

A new mouse mutation causes skin and hair defects due to a gene change.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

A specific gene mutation causes severe skin and nail issues and hair loss.

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

The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.

The G allele of IFITM3 rs12252 is linked to more severe COVID-19.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

Certain genetic markers may increase or decrease prostate cancer risk.