22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
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.
June 2004 in “Annales de Dermatologie et de Vénéréologie” 89 citations
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April 2023 in “Forensic Science International Genetics” Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
21 citations
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March 2023 in “Journal of Crohn s and Colitis” Microvascular damage and platelet issues persist in ulcerative colitis remission, helping assess disease states.
4 citations
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March 2024 in “Forensic Sciences Research” Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
3 citations
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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.
2 citations
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March 2023 in “Research Square (Research Square)” Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
1 citations
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May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Ulcerative colitis involves immune activation, chronic inflammation, and metabolic issues, some of which persist even during remission.
March 2026 in “Egyptian Journal of Forensic Sciences” Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
August 2024 in “Clinical & experimental pathology” Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Forensic DNA phenotyping can predict physical traits from DNA but faces challenges in knowledge and ethics.
May 2023 in “GSC biological and pharmaceutical sciences” Forensic DNA phenotyping is becoming useful for predicting physical traits in criminal investigations but is limited by ethical concerns and incomplete genetic understanding.
December 2022 in “IntechOpen eBooks” Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
767 citations
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September 2016 in “Human Reproduction” Polycystic ovary syndrome affects about 6-10% of women, with varying symptoms and the need for standardized global definitions.
54 citations
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November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
16 citations
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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.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
2 citations
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January 2025 in “Veterinary Dermatology” Male Pomeranians with woolly coats are more likely to develop alopecia X.
1 citations
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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
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January 2017 in “Evolutionary studies” Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
January 2026 in “Animal Advances” Genes linked to coat color and fiber length in Chinese goats were identified.
January 2025 in “Iraqi Journal of Science” PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
April 2023 in “Digital Library of Theses and Dissertations (Universidade de São Paulo)” Mesenchymal stem cells from laser-assisted liposuction are as effective and safe as those from conventional liposuction for cell therapy.
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.