43 citations,
November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
29 citations,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
7 citations,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
1 citations,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
26 citations,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
January 2017 in “Springer eBooks” The document explains various skin conditions and their treatments.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
610 citations,
April 2014 in “Nature Reviews Immunology” The document concludes that understanding how the skin's immune system and inflammation work is complex and requires more research to improve treatments for skin diseases.
77 citations,
April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
49 citations,
January 2018 in “Immunology” Psoriasis is linked to other autoimmune diseases and involves a specific inflammatory process.
42 citations,
March 2006 in “Drug Discovery Today: Therapeutic Strategies” The conclusion is that we need more effective hair loss treatments than the current ones, and these could include new drugs, gene and stem cell therapy, hormones, and scalp cooling, but they all need thorough safety testing.
36 citations,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
7 citations,
March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
3 citations,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
1 citations,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
1533 citations,
October 2008 in “Endocrine reviews” Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
131 citations,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin grafts on mice can cause an immune response leading to hair loss, useful for studying human hair loss conditions.
128 citations,
September 2011 in “British Journal of Dermatology” Obesity is linked to various skin problems and may increase the risk of skin cancer.
125 citations,
September 2019 in “Journal of Clinical Immunology” Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
112 citations,
January 2014 in “Molecular and cellular therapies” Blocking the Wnt pathway could lead to new treatments for cancer and tissue repair but requires careful development to avoid side effects.
87 citations,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
86 citations,
December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
82 citations,
March 2016 in “Autoimmunity reviews” Animal models have helped understand hair loss from alopecia areata and find new treatments.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
74 citations,
May 2016 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” Both vitiligo and alopecia areata involve an immune response triggered by stress and specific genes, with treatments targeting this pathway showing potential.