258 citations
,
July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
9 citations
,
August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
6 citations
,
March 2022 in “Frontiers in drug discovery” Some small molecule antivirals show promise against COVID-19, but more research is needed to understand and improve them.
87 citations
,
March 2015 in “The EMBO Journal” Adult tissue stem cells can adapt and switch roles to help repair and maintain the body.
48 citations
,
January 2024 in “Frontiers in Pharmacology” Improving topical drug delivery involves overcoming skin barriers and using personalized dosing to enhance effectiveness.
8 citations
,
November 2023 in “Social Science & Medicine” Gendered social factors, not just biology, contribute to sex differences in adverse drug events.
22 citations
,
March 2023 in “Bioengineering” Stem cell therapies may help improve symptoms and quality of life for people with epidermolysis bullosa.
14 citations
,
July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
1 citations
,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
97 citations
,
May 2019 in “Frontiers in Cell and Developmental Biology” Abnormal ECM and immune cell interactions can cause skin diseases.
52 citations
,
January 2021 in “Journal of Thoracic Oncology” Effective vaccines and treatments are crucial for long-term COVID-19 control.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
78 citations
,
January 2013 in “Dermatology Online Journal” Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
29 citations
,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
1 citations
,
October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
May 2024 in “Indian Journal of Dermatology” The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
4 citations
,
January 2021 in “JAMA Dermatology” Improved access to hair removal is crucial for transgender individuals before feminizing surgeries.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
46 citations
,
October 1999 in “Journal of The American Academy of Dermatology” Finasteride effectively treats male pattern hair loss with a 1 mg daily dose.
33 citations
,
September 1998 in “Dermatologic Surgery” Surgeons suggested a standard system for hair transplant methods to improve communication and results.
33 citations
,
January 1991 in “The Journal of Dermatologic Surgery and Oncology” Incisional slit grafting for hair transplantation gives natural-looking results and has a high success rate.
5 citations
,
September 1997 in “Dermatologic Surgery” Dr. Russell Knudsen's system classifies hair grafts by class, shape, and size for clearer communication in hair restoration surgery.
5 citations
,
January 1985 in “Facial Plastic Surgery” Flap surgery is effective for treating male baldness, offering immediate results with dense hair growth.
4 citations
,
December 1992 in “The American Journal of Cosmetic Surgery” The modified S pattern for scalp reduction is effective for removing more bald scalp and hiding scars in hair restoration.