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The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A new gene mutation causes insulin resistance in a girl and her mother.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

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

The LMNA mutation affects skin structure even in asymptomatic carriers.

The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

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

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

HLD10 can include increased body hair and Mongolian spots.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

Mice hair follicles take in the amino acid cystine.

MEX3A is crucial for maintaining intestinal stem cells in mice.

A gene variant causes a skin and hair disorder by disrupting protein balance.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.

TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.

The lentiviral array can monitor and predict gene activity during stem cell differentiation.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

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