75 citations,
February 2017 in “Aging” SkQ1 antioxidant improved health and lifespan in mice.
41 citations,
August 2015 in “The FASEB Journal” Blocking the Wnt/β‐catenin pathway can speed up wound healing, reduce scarring, and improve cartilage repair.
11 citations,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
4 citations,
January 2020 in “Genes” The KRTAP21-2 gene affects wool length and quality in sheep.
October 2023 in “BMC endocrine disorders” A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
47 citations,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
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.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
2 citations,
November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
2 citations,
March 2020 in “International Journal of Molecular Sciences” Topical treatments can deliver active molecules to skin stem cells, potentially helping treat skin and hair disorders, including skin cancers and hair loss.
2 citations,
July 2023 in “Water” Tradescantia plants can effectively test for the toxicity of harmful algae.
4 citations,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
42 citations,
April 2012 in “Seminars in Oncology” Targeted cancer therapies often cause skin problems that need careful management to improve patient quality of life and treatment success.
56 citations,
March 2015 in “Journal of Investigative Dermatology” Healthy mitochondria in skin cells are essential for proper hair growth and skin cell interaction in mice.
19 citations,
February 2023 in “Environmental and experimental botany” Jasmonic acid helps plants grow, defend against threats, and survive stressful conditions like drought and salt.
3 citations,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
137 citations,
April 2015 in “Nature Reviews Molecular Cell Biology” Different types of stem cells with unique roles exist in blood, skin, and intestines, and this variety is important for tissue repair.
91 citations,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
44 citations,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
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.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
13 citations,
February 2010 in “Stem Cell Reviews and Reports” Stem cells compete for space using cell adhesion, and mutations can affect their competitive success, with implications for tissue health and disease.
70 citations,
January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
2 citations,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
June 2012 in “Expert Review of Dermatology” Japanese researchers created new hair follicles from human cells that grew hair when put into mice, and other findings showed a link between eye disease severity and corneal thickness, gene mutations affecting hearing and touch, and the safety of the shingles vaccine for adults over 50.
30 citations,
October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.