2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
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.
5 citations
,
January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
2 citations
,
May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.
25 citations
,
January 2014 in “Annals of Dermatology” Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
June 2010 in “Expert Review of Dermatology” Scientists found key proteins and genes that affect skin and hair health, and identified potential new treatments for hair loss, skin disorders, and wound healing.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
18 citations
,
June 2016 in “Brain Research” Increasing TSPO in the brain may help improve memory problems.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
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.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
2 citations
,
September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
7 citations
,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
7 citations
,
July 2019 in “Animals” The KRTAP21-1 gene affects wool yield and can help improve wool production.
140 citations
,
October 2008 in “Nature Genetics”
25 citations
,
August 2007 in “Molecular Therapy” Researchers found a safe and effective way to pick genetically modified skin cells with high growth potential using CD24.
22 citations
,
December 2020 in “mSphere” A fungal enzyme was used to make compounds more soluble, aiding drug discovery and crop protection.
2 citations
,
April 2012 in “Science-business Exchange” Blocking a protein called prostaglandin D2 might help treat hair loss.
January 2004 in “Molecular biotechnology” April 2019 in “Journal of the Endocrine Society” Androgens and estrogens are crucial for insulin secretion in males.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
38 citations
,
February 1989 in “Journal of Investigative Dermatology”
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.