11 citations,
January 2015 in “Dermatology” The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
3 citations,
December 2020 in “Scientific reports” Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
[object Object] 2 citations,
August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
2 citations,
March 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” HAIR may cause fetal loss by triggering different cell death processes in the uterus and placenta.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
43 citations,
December 2017 in “BMC Plant Biology” GmMAX3b gene in soybeans boosts nodulation and affects hormone levels.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
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.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
3 citations,
July 2023 in “Biomolecules” B2m-free HLA variants may be a new class of HLA important in immune responses and diseases.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
1 citations,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
9 citations,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
2 citations,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
8 citations,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
49 citations,
November 2021 in “Annual review of pathology” Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
2 citations,
August 2019 in “Journal of skin and stem cell” The study concludes that regulating apoptosis could lead to new treatments for various skin and hair conditions.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
[object Object] 189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
134 citations,
July 2020 in “Experimental dermatology” Hair follicles are normally protected from the immune system, but when this protection fails, it can cause hair loss in alopecia areata.
19 citations,
December 2015 in “Journal of Investigative Dermatology” The protein p53 directly reduces the production of Keratin 17, a skin and hair protein, in rats with radiation dermatitis.
7 citations,
February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
353 citations,
February 2022 in “Nature Immunology” Long-haul COVID can cause lasting symptoms affecting many body systems and may be linked to ongoing inflammation and immune system issues.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
45 citations,
October 2015 in “BMC Genomics” Chicken feather growth involves specific genes and shares similarities with hair development.
5 citations,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
29 citations,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
December 2024 in “Medical Review” Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.