April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
767 citations,
September 2016 in “Human Reproduction” Polycystic ovary syndrome affects about 6-10% of women, with varying symptoms and the need for standardized global definitions.
16 citations,
February 2016 in “Gynecological Endocrinology” Indian women with PCOS from Delhi and Srinagar show different symptoms, with Delhi women having higher obesity and blood sugar issues, and Srinagar women showing more hair growth and testosterone levels.
3 citations,
January 2021 in “Journal of The American Academy of Dermatology” Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
1 citations,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
1 citations,
January 2017 in “Evolutionary studies” Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
December 2022 in “Nepal Journal of Obstetrics and Gynaecology” The most common form of PCOS in the group was anovulatory PCOS, with no cases of obese PCOS, highlighting the importance of assessing lean women with menstrual issues.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
April 2015 in “Dentistry 3000” Premature hair graying in the face may be influenced by genetics and environment.
130 citations,
January 2000 in “Nature biotechnology” 52 citations,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
24 citations,
April 2021 in “BMC women's health” High BMI worsens hair growth in women with PCOS.
12 citations,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
5 citations,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
3 citations,
June 2016 in “Dermatology Reports” Finger length ratios don't predict baldness in men.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
January 2021 in “Medicine Science | International Medical Journal” 340 citations,
September 2014 in “PLOS Genetics” The study found that in Latin America, ancestry varies by location, influences physical traits, and affects how people perceive their own heritage.
August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
February 2024 in “Acta dermato-venereologica” This type of hair loss is probably often missed and treatments reducing inflammation might work well.
47 citations,
June 2016 in “JAMA Dermatology” Men with early hair loss have similar hormone levels to women with PCOS, possibly increasing risk of obesity and heart issues.
30 citations,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
1 citations,
June 2021 in “Journal of gynecology and womens health” The study found that PCOS affects about 6.5-6.8% of women in both urban and rural areas of Telangana, India, and highlighted the importance of lifestyle changes for management.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
13 citations,
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Four drugs were found that could potentially treat COVID-19 by inhibiting the virus in lab tests.
June 2016 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” April 2021 in “Medical Science and Discovery” Early hair loss in men may signal broader health issues similar to PCOS in women.
353 citations,
July 2015 in “Molecular immunology” Porcine skin is very similar to human skin, making it a useful model for research.