81 citations
,
July 2012 in “Translational Psychiatry” Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
208 citations
,
November 2000 in “Development” Edar and Eda proteins are crucial for proper tooth development.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
21 citations
,
January 1999 in “Molecular and Cellular Biochemistry” Niacin deficiency makes rats more sensitive to cancer-causing chemicals.
July 2022 in “Journal of Investigative Dermatology” Dkk4 is necessary for the initial development and arrangement of hair follicles.
December 2023 in “International Journal of Dermatology”
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” Dopamine receptors in the brain influence itch-related scratching behavior.
October 2021 in “Journal of Investigative Dermatology” DPP4, a molecule in skin, helps heal large wounds and regrow hair follicles when its levels are reduced.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.
April 2018 in “Journal of Investigative Dermatology” Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
39 citations
,
August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
1 citations
,
November 2003 in “SKINmed Dermatology for the Clinician” A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
July 2023 in “International Journal of Molecular Sciences” N,N-Dimethylglycine Sodium Salt helps reduce skin inflammation and improves skin cell growth and healing.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
14 citations
,
June 1982 in “Archives of Dermatology” A man had bad reactions to a hair loss treatment called DNCB.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
3 citations
,
March 2024 in “Journal of the American Academy of Dermatology” Low-dose naltrexone helps improve symptoms and stabilize frontal fibrosing alopecia and lichen planopilaris.