166 citations
,
February 2005 in “Behavioural brain research” Vitamin D receptor knockout mice have significant motor impairments but no cognitive deficits.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
45 citations
,
March 1997 in “Journal of Investigative Dermatology” October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
36 citations
,
July 2007 in “Journal of Investigative Dermatology” Certain HLA class II alleles increase or decrease the risk of alopecia areata.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
100 citations
,
May 2003 in “Journal of Neuroscience” Neuroactive steroids affect cocaine's rewarding effects through the ς1 receptor.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
September 2023 in “International journal of biological macromolecules” The chitosan/PDRN polyplex improved wound healing in diabetic rats.
December 2025 in “Molecules” DPP may help hair regrowth by improving blood vessel function under stress.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” Blocking Prostaglandin D₂ may help treat hair loss.
2 citations
,
February 2019 in “Journal of Investigative Dermatology” Higher levels of the DP2 receptor may lead to hair loss.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
15 citations
,
March 2008 in “The Journal of Dermatology” Topical squaric acid dibutylester worsened discoid lupus erythematosus in a patient.
November 2021 in “Zenodo (CERN European Organization for Nuclear Research)” Understanding the 2D:4D digit ratio in vitiligo patients may help in clinical assessments.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
85 citations
,
May 2009 in “Hippocampus” Progesterone helps adult male mice grow more neurons and improves memory.
January 2025 in “Fìzìologìčnij žurnal” PDRN may reduce inflammation and complications in revision rhinoplasty for patients with high fibrinogen levels.
32 citations
,
October 2015 in “Frontiers in Cellular Neuroscience” DHT is needed for long-term depression, while E2 is needed for full long-term potentiation in male rat brains.
April 2019 in “Journal of Investigative Dermatology” Skin grafts from related donors significantly healed chronic wounds in patients with a severe skin condition over a year.
July 1999 in “Journal of the American Academy of Dermatology” April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
5 citations
,
May 2019 in “Anais Brasileiros de Dermatologia” Finger length ratios might predict risk for skin condition in males.