36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
42 citations
,
August 1999 in “The American journal of pathology” Basal cell carcinomas have much higher levels of Vitamin D3 receptors compared to healthy skin.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
41 citations
,
April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
October 1993 in “The Journal of Clinical Pharmacology”
341 citations
,
November 2009 in “The FASEB Journal” Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
2 citations
,
August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
January 2025 in “Nature Communications” Large-scale reconstructions enhance understanding of vibrissal sensory mapping in the brain.
September 2025 in “Animals” The KRTAP22-2 gene in sheep does not significantly affect wool traits.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
October 2007 in “Revue du Rhumatisme”
2 citations
,
December 2018 in “Journal of cosmetic dermatology” Higher CRBP1 levels are linked to more severe alopecia areata.
May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Cannabidivarin (CBDV) helps new brain cells grow and develop in a specific brain area through a certain receptor.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
277 citations
,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
March 2026 in “Frontiers in Veterinary Science” All-trans retinoic acid slows cell growth and increases cell death in goat hair follicles through a specific pathway.
20 citations
,
January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
43 citations
,
May 1999 in “Journal of Biological Chemistry” Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
16 citations
,
April 2000 in “Journal of Investigative Dermatology” The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
14 citations
,
March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
4 citations
,
April 2007 in “Journal of Pediatric Gastroenterology and Nutrition” A liver transplant patient with APECED had a rare VZV recurrence and pneumonia, treated successfully, but later died from other infections.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
1 citations
,
January 2024 in “Wiadomości Lekarskie” Detecting early breast arterial calcifications can help assess cardiovascular disease risk.
107 citations
,
April 2014 in “The Plant cell” The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
31 citations
,
January 2007 in “Journal of biological chemistry/The Journal of biological chemistry” Stress activates a special function of the Vitamin D receptor with the help of c-Jun, which can also prevent cell death.
October 2021 in “Journal of Mind and Medical Sciences” The study found a unique vein pattern around the aorta and two arteries in the right kidney.
September 2023 in “Bangladesh Journal of Neurosurgery” Stereotactic Radiosurgery is an effective non-invasive treatment for cerebral AVM, with successful outcomes and minimal side effects.