November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
47 citations
,
April 2021 in “BMC Medical Genomics” Certain gene variants can influence acne risk and severity.
5 citations
,
March 2017 in “Gene” CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
2 citations
,
September 2021 in “F1000Research” The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
January 2024 in “Animals” SP1 promotes and KROX20 inhibits hair cell growth by affecting the CUX1 gene.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” FOXA1 and CCL2 genes are more active in women with PCOS, varying by phenotype.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
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.
1 citations
,
April 2025 in “BMC Veterinary Research” PSAT1 is key for hair growth and stem cell function in cashmere goats.
2 citations
,
December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
30 citations
,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
8 citations
,
January 2022 in “Infectious diseases News Opinions Training” Genetic differences affect COVID-19 severity and treatment effectiveness.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
1 citations
,
October 2010 in “2010 3rd International Conference on Biomedical Engineering and Informatics” The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.
305 citations
,
March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
25 citations
,
September 2014 in “SpringerPlus” Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
9 citations
,
November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
88 citations
,
July 2009 in “Experimental and Clinical Endocrinology & Diabetes” 3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
29 citations
,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
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.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
30 citations
,
February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.