62 citations,
August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
55 citations,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
48 citations,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
47 citations,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
35 citations,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
11 citations,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
10 citations,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” FP-1 is a key protein in rat hair growth, active only during the growth phase.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
35 citations,
April 2014 in “Journal of proteomics” Feed restriction in sheep leads to finer wool fibers but may reduce wool quality.
2 citations,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
6 citations,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
24 citations,
April 2013 in “PLOS ONE” TNFα, IFNγ, and Substance P significantly affect prolactin levels in human skin, suggesting new treatments for skin and hair conditions.
11 citations,
April 2022 in “Biophysical Journal” Disulfide bonds in keratin fibers break more easily under stress, especially when wet, affecting fiber strength.
May 2024 in “International Journal of Cosmetic Science” Disulfide bonds are crucial for hair's strength, especially when wet.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
15 citations,
July 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
15 citations,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
7 citations,
January 2023 in “Journal of Hematology & Oncology” Using protein degradation to fight cancer drug resistance shows promise but needs more precise targeting and fewer side effects.
7 citations,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
6 citations,
September 2023 in “Experimental physiology” A special receptor in sensory nerve endings helps control how they respond to stretching.
78 citations,
November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
28 citations,
April 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
10 citations,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
5 citations,
August 2013 in “InTech eBooks” KLF4 is important for maintaining stem cells and has potential in cancer treatment and wound healing.
403 citations,
November 2005 in “Journal of Endocrinology” Dehydroepiandrosterone (DHEA) is a prohormone important for producing sex steroids and has potential health benefits.
59 citations,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.