January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.
January 2019 in “Springer Reference Medizin” Follicle Stimulating Hormone is important for fertility.
October 2018 in “InTech eBooks” The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
January 2015 in “Dermatology” The document covers various dermatological treatments and conditions.
June 2006 in “British Journal of Dermatology” Lower adrenal hormone levels may cause hair loss in postmenopausal women, certain patterns help diagnose nail cancer, and a gene variant linked to higher skin cancer risk in kidney transplant patients suggests monitoring folate levels.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
2 citations,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
July 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
21 citations,
January 2022 in “Biomaterials Science” RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.
14 citations,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
7 citations,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
1 citations,
April 2023 in “International journal of molecular sciences” Certain skin proteins can form anchoring structures without the protein AMACO.
1 citations,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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.
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.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
148 citations,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
143 citations,
January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
91 citations,
January 2010 in “Journal of Allergy and Clinical Immunology” NK cells play a role in skin diseases like eczema and psoriasis.
89 citations,
August 2013 in “PloS one” Androgen receptors are active in many tissues of both male and female mice, not just reproductive organs.
51 citations,
October 2019 in “Cells” Baricitinib reduces inflammation and improves cell health in premature aging cells.
48 citations,
May 2019 in “Genome Biology” Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
48 citations,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
47 citations,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.