1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
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.
1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
1 citations,
July 2018 in “Elsevier eBooks” Heredity and hormones cause common hair loss, and topical minoxidil is the first recommended treatment.
1 citations,
May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
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.
1 citations,
December 2016 in “Trichology and cosmetology:” Panax ginseng might help with hair growth and has fewer side effects than synthetic treatments.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Blocking both main energy pathways can stop hair follicle stem cell-induced skin cancer growth.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
The study aims to create a model to improve personalized and preventive health care.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
December 2022 in “Research Square (Research Square)” Key genes linked to immune response are upregulated in hair follicles and skin tissues in chronic discoid lupus erythematosus.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
October 2022 in “Research Square (Research Square)” Key genes linked to immune response are highly active in lupus-affected hair follicles.
Wild African goats have genetic adaptations for surviving harsh desert conditions.
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.
September 2020 in “Journal of Investigative Medicine” Omics techniques are needed to understand the scalp microbiome's role in alopecia areata for new treatments.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Different fish use the same genes to regrow teeth.
September 2020 in “Research Square (Research Square)” Researchers found that certain RNA sequences play a role in yak hair growth and these sequences are somewhat similar to those in cashmere goats.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Semecarpus anacardium leaf extracts may offer safe, effective cancer treatment alternatives.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
September 2019 in “Journal of Investigative Dermatology” People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
September 2019 in “Journal of Investigative Dermatology” Specialized ribosomes affect aging in human skin cells.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
July 2018 in “Benha Journal of Applied Sciences” Higher levels of miR-203 may contribute to hair loss in alopecia areata.
January 2017 in “Elsevier eBooks” Antioxidants may help improve mitochondrial health and could be used to treat diseases related to cell damage.