February 2026 in “Advanced Science” TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
11 citations
,
October 2011 in “Allergologia et immunopathologia” A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
11 citations
,
August 2019 in “Journal of Molecular Histology” NFIC helps rat dental cells grow and turn into bone-like cells.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
7 citations
,
September 2011 in “International Journal of Dermatology” The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
81 citations
,
July 2012 in “Translational Psychiatry” Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
37 citations
,
January 2010 in “Journal of Clinical Investigation” N-WASP is essential for normal hair growth in mice.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
May 2023 in “Journal of the Dermatology Nurses' Association” The DNA convention was a valuable opportunity for learning and networking, especially after COVID-19.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
41 citations
,
December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
April 2018 in “Journal of Investigative Dermatology” NDRG1 protein helps infantile hemangioma, a common infant tumor, to grow, and its mismanagement by FOXO1 protein plays a big role in causing the tumor.
4 citations
,
December 2024 in “JAAD Case Reports” Nirogacestat can cause severe skin issues like hidradenitis suppurativa.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
2 citations
,
April 2024 in “Journal of Dermatological Science” Necrosulfonamide helps hair grow by blocking a protein linked to hair loss.
December 2018 in “Dermatologic Surgery”
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
24 citations
,
February 2015 in “Experimental Cell Research” NFIC helps human dental stem cells grow and become tooth-like cells.
April 2018 in “Journal of Investigative Dermatology” Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
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.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.