40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
29 citations
,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
5 citations
,
January 2025 in “Burns & Trauma” Machine learning and single-cell analysis improve understanding and treatment of wound healing.
5 citations
,
June 2022 in “Frontiers in Endocrinology” Research from 2011 to 2020 shows androgen receptors could be key for prognosis and treatment in certain breast cancers.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
1 citations
,
September 2021 in “Pharmaceutics” High-dose finasteride may help treat glioblastoma but needs localized delivery for effectiveness.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
June 2025 in “Microorganisms” Microbial imbalances in hair follicles may contribute to hair loss, especially in women.
August 2024 in “Cosmetics” Personalized treatments for hair loss are becoming more effective by using genetic information.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
Hairlessness in mammals is due to complex genetic changes in both genes and regulatory regions.
62 citations
,
January 2015 in “Journal of Dermatological Science” New genetic discoveries may lead to better treatments for alopecia areata.
4 citations
,
August 2023 in “Journal of Investigative Dermatology” Certain genes influence the direction of hair whorls on the scalp.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
7 citations
,
October 2011 in “BMC Cancer” Overexpression of HDGF in melanocytes does not cause cancer.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
7 citations
,
January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
March 2025 in “MINAR International Journal of Applied Sciences and Technology” Certain genes can predict how well breast cancer patients respond to chemotherapy.
November 2023 in “npj regenerative medicine” Skin spheroids with both outer and inner layers are key for regrowing skin patterns and hair.
153 citations
,
June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
83 citations
,
June 2018 in “Frontiers in immunology” Certain types of T cells are essential for healthy skin and play a role in skin diseases, but more research is needed to improve treatments.
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.
25 citations
,
April 2015 in “Journal of Investigative Dermatology” GasderminA3 is important for normal hair cycle transitions by controlling Wnt signaling.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
April 2019 in “Molecular Informatics” Researchers developed reliable models to predict how well certain compounds bind to androgen receptors, emphasizing the importance of atomic electronegativity.