Search

everythingexperts & clinicslearnresearchcommunity

for

Search:↓

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

A new rat strain with a specific gene mutation causes hair loss and kidney issues.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

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

5% topical minoxidil improves hair density and quality in monilethrix patients.

A genetic variant in the KRT25 gene causes tightly curled hair.

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

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

A new genetic mutation causing Werner's syndrome was found in an Indian man.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.

A specific gene mutation causes congenital hair loss.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

Robertsonian translocation can cause recurrent miscarriages.

A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.

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

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

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

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

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

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

Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.