1 citations
,
May 2024 in “Journal of Dermatological Science” Injecting specific cells into the skin can help improve skin structure and reduce blisters in a genetic skin disorder.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
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.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
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.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
9 citations
,
May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
7 citations
,
February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
5 citations
,
July 2020 in “JAMA Dermatology” Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
5 citations
,
May 2018 in “Veterinary dermatology” Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
3 citations
,
February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
2 citations
,
December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
November 2024 in “Journal of Investigative Dermatology” Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.