1 citations,
May 2023 in “Cell reports medicine” Sons of mothers with polycystic ovary syndrome (PCOS) have a higher risk of obesity and insulin resistance, possibly due to certain genes and factors passed down from their mothers.
144 citations,
July 2015 in “Clinical, Cosmetic and Investigational Dermatology” Alopecia areata is a common autoimmune disease affecting about 2% of people, causing significant disability and often associated with mental health issues and other autoimmune conditions.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
33 citations,
October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
8 citations,
August 2020 in “PLOS Computational Biology” A machine learning model called CATNIP can predict new uses for existing drugs, like using antidepressants for Parkinson's disease and a thyroid cancer drug for diabetes.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
247 citations,
August 2011 in “European Journal of Epidemiology” The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.
20 citations,
June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
January 2018 in “Springer eBooks” Hidradenitis Suppurativa is likely an autoinflammatory disease, and better understanding its causes could improve treatments.
9 citations,
May 2021 in “Frontiers in Cell and Developmental Biology” DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
83 citations,
July 2008 in “Current Opinion in Chemical Biology” The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
47 citations,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
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.
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.
4 citations,
April 2021 in “Experimental and Molecular Medicine” The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
1 citations,
May 2021 in “BMC Proceedings” The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
64 citations,
March 2017 in “Nature communications” Researchers found 63 genes linked to male-pattern baldness, which could help in understanding its biology and developing new treatments.
49 citations,
December 2009 in “Journal of Investigative Dermatology” Thyroid function affects skin health, with a complex interaction between the two.
28 citations,
June 2021 in “Frontiers in immunology” A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
April 2024 in “Journal of Investigative Dermatology” Using quantitative traits in genetics can improve understanding and management of skin health and conditions.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
15 citations,
April 2022 in “Immunology” Men and women get COVID-19 at similar rates, but men tend to get sicker and have a higher risk of dying, while women usually have stronger immune responses and vaccine reactions.
52 citations,
December 2014 in “Journal of Dermatological Science” Apremilast may help treat hair loss in alopecia areata.
11 citations,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
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.
127 citations,
January 2015 in “Journal of Biological Rhythms” The skin's internal clock affects healing, cancer risk, aging, immunity, and hair growth, and disruptions can harm skin health.