Search

everythinglearnresearchcommunity

for

Search:↓

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

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

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

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

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

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.

Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.

Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

Genetic variants at 20p11 increase baldness risk in Chinese Han people.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

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.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

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

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

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