35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
21 citations
,
February 2016 in “Reproductive Biomedicine Online” The conclusion suggests that PCOS may persist due to genetic traits that, while harmful for female fertility, could have provided survival and reproductive benefits to males.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
36 citations
,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
46 citations
,
February 2016 in “Experimental Dermatology” Genes play a significant role in male-pattern baldness, and understanding them could lead to new treatments and insights into related health issues.
Social media data can help track and predict COVID-19 symptoms and trends.
66 citations
,
December 2013 in “Nature Cell Biology” Inactive hair follicle stem cells help prevent skin cancer.
60 citations
,
January 2007 in “Human Genetics” AR polyglycine repeat doesn't cause baldness.
14 citations
,
February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
3 citations
,
May 2018 in “Experimental Dermatology” Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” Certain gene variations may increase the risk of PCOS in South Indian women.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” Hair, teeth, and mammary glands develop similarly at first but use different genes later.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
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.
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
June 2008 in “British Journal of Dermatology” UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
43 citations
,
June 2018 in “Clinics in dermatology” People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
47 citations
,
January 2013 in “International Journal of Cosmetic Science” Hair diversity is influenced by complex genetics and environmental factors, requiring more research for practical solutions.
1308 citations
,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
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.
68 citations
,
November 2012 in “Journal of Investigative Dermatology” Prostaglandin D2 blocks new hair growth after skin injury through the Gpr44 receptor.