88 citations
,
August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
694 citations
,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
4 citations
,
March 2012 in “European journal of wildlife research” Wire brush snares are best for collecting Eurasian Lynx hair for DNA analysis.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.
18 citations
,
June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
New peptides can delay aging and improve cell function.
24 citations
,
June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
January 2025 in “Journal of Pharmaceutical Research Science & Technology” Dissolving microneedles offer efficient, minimally invasive drug delivery through the skin.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
January 2022 in “Elsevier eBooks” Nanospanlastics are effective in targeted drug delivery for chronic diseases, improving skin conditions, treating hair loss, and increasing drug absorption.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
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.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
2 citations
,
December 2024 in “Journal of Cosmetic Dermatology” SNP profiling allows personalized skincare treatments for better results and fewer side effects.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
October 2022 in “Dermatology practical & conceptual” Scalp skin condition LEDS has similar features to Zoon's balanitis, a mucosal skin disorder.
16 citations
,
March 2021 in “EvoDevo” Different species use the same genes for tooth regeneration.
2 citations
,
July 2015 in “Case Reports in Dermatology” DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.
January 2010 in “USFEU Scientific Library (Ural State Forest Engineering University)” Grooved microneedles made from hyaluronic acid can deliver drugs into the skin with 98% accuracy.
2 citations
,
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
260 citations
,
January 2019 in “Pharmaceutics” Niosomes are a promising, stable, and cost-effective drug delivery system with potential for improved targeting and safety.
129 citations
,
January 2004 in “Journal of medicinal chemistry” Researchers developed new compounds that target the androgen receptor effectively with fewer side effects.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.