December 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
18 citations,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
14 citations,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
43 citations,
January 2014 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
25 citations,
August 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
245 citations,
January 2018 in “Bone Research” TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
50 citations,
July 2021 in “Nature Communications” The drug enzalutamide may reduce the ability of the virus causing COVID-19 to enter lung cells.
4 citations,
April 2021 in “Experimental and Molecular Medicine” The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
12 citations,
June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
8 citations,
December 2022 in “Nature Reviews Endocrinology” Sex hormones' effects on COVID-19 are unclear and more research is needed to understand their potential as treatment.
8 citations,
April 2013 in “Central European Journal of Biology” Melanocytes are diverse cells important for pigmentation and skin health, influenced by genetics and environment.
31 citations,
January 2007 in “Journal of biological chemistry/The Journal of biological chemistry” Stress activates a special function of the Vitamin D receptor with the help of c-Jun, which can also prevent cell death.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
5 citations,
February 2014 in “PloS one” Eyelid cells share signaling components but differ in pathway activity.
35 citations,
November 2017 in “Trends in Molecular Medicine” Mice with enhanced regeneration abilities may help develop new regenerative medicine therapies.
163 citations,
March 2012 in “BMC biology” Stem cell niches support, regulate, and coordinate stem cell functions.
6 citations,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
8 citations,
October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
35 citations,
December 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
1 citations,
January 2017 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
12 citations,
September 2022 in “Foods” Some nutraceuticals may help in COVID-19 prevention and treatment, but more research is needed.
5 citations,
January 2023 in “Cell proliferation” Chick embryo extract helps rat hair follicle stem cells potentially turn into Schwann cells, important for the nervous system.
4 citations,
November 2014 The skin protects the body, regulates temperature, senses touch, and makes vitamin D.