June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
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.
5 citations
,
March 2022 in “Clinical Cosmetic and Investigational Dermatology” The model accurately predicts skin conditions in Korean women using genetic information, aiding personalized skincare.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
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.
49 citations
,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
8 citations
,
November 2012 in “Journal of Endocrinological Investigation” Greek women with classic PCOS are more likely to have metabolic syndrome and insulin resistance than those with newer PCOS types.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
18 citations
,
December 2005 in “Journal of Medicinal Chemistry” A brominated phenoxy compound effectively inhibits a human enzyme and shows potential for clinical use.
13 citations
,
December 2020 in “PLoS ONE” Genetic factors influence growth and brain development in children.
8 citations
,
April 2016 in “Experimental Dermatology” The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
42 citations
,
September 2007 in “The Journal of Clinical Endocrinology and Metabolism” The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
January 2005 in “Experimental Dermatology” Genetic factors play a major role in acne.
1 citations
,
December 2017 in “International Journal of Public Health Science (IJPHS)” Obesity and BMI don't differ among PCOS types, but teens should learn about long-term health risks.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
47 citations
,
February 2014 in “Journal of Cutaneous Pathology” Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
32 citations
,
April 2016 in “Journal of Obstetrics and Gynaecology Research” Women with severe types of PCOS are more likely to have metabolic syndrome, and belly fat is a key predictor of this risk.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
3 citations
,
May 2018 in “The Indian Journal of Animal Sciences” The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
153 citations
,
October 2012 in “Skin Pharmacology and Physiology” Caffeine in cosmetics may reduce cellulite, protect skin, and stimulate hair growth, but more research is needed on its use and effects.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.