April 2026 in “Human Genome Variation” A study on a patient with IFAP syndrome, characterized by ichthyosis, alopecia, and photophobia, identified a hemizygous intronic variant in the MBTPS2 gene. This variant, previously known to cause a 20-base skipping in exon 7, was further investigated using long-read RNA sequencing. The analysis revealed additional skipping of exons 6 and 7 and a significant reduction in normal transcript expression compared to healthy skin. This highlights the utility of long-read RNA sequencing in identifying diverse transcript isoforms and understanding the impact of splice-altering variants.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
7 citations
,
July 2019 in “Animals” The KRTAP21-1 gene affects wool yield and can help improve wool production.
9 citations
,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
336 citations
,
August 2015 in “European Journal of Epidemiology” The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
September 2023 in “Nature Communications” Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
47 citations
,
April 2021 in “BMC Medical Genomics” Certain gene variants can influence acne risk and severity.
4 citations
,
May 2024 in “Genes” KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
5 citations
,
December 2022 in “Genes” Genetic differences affect how people respond to COVID-19.
18 citations
,
January 2013 in “PLoS ONE” HLA-DRB5 and other genes may be linked to alopecia universalis.
1 citations
,
January 2024 in “Animal Research and One Health” Mouse models are essential for studying and improving genetic traits in agriculture.
Early NAS level changes affect alcohol consumption vulnerability.
23 citations
,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
38 citations
,
September 2021 in “Signal Transduction and Targeted Therapy” Genetic differences affect COVID-19 severity and treatment development.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
258 citations
,
July 2016 in “Reproductive Biology and Endocrinology” The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
88 citations
,
May 2005 in “Journal of Dermatological Science” Versican, a protein, is less present in thinning hair follicles and this decrease might contribute to common hair loss in men.
42 citations
,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
4 citations
,
April 2021 in “Experimental and Molecular Medicine” The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
4 citations
,
January 2019 in “International journal of molecular sciences” Genetically modified sheep with more β-catenin grew more wool without changing the wool's length or thickness.
349 citations
,
January 2005 in “The FASEB journal” Human skin can make serotonin and melatonin, which help protect and maintain it.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
20 citations
,
February 2004 in “Clinical & Experimental Immunology” SADBE treatment led to complete hair regrowth in mice with alopecia areata by altering immune cell movement.
4 citations
,
July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
10 citations
,
March 2024 in “Endocrine Reviews” Significant progress was made in understanding androgen excess disorders, but much is still unknown.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
1 citations
,
October 2023 in “Animals” A small dose of Platycladus orientalis leaf extract improves raccoon dogs' growth and health, but higher doses can be harmful.