November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
4 citations
,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
April 2023 in “Research Square (Research Square)” Gene therapy with a vitamin D receptor gene improved hair growth in rats with a type of rickets-related baldness.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
7 citations
,
February 2015 in “Journal of comparative pathology” CD8+ T cells play a key role in graft-versus-host disease in certain mice models.
91 citations
,
May 1972 in “Journal of Biological Chemistry” Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
35 citations
,
December 2017 in “Journal of Experimental Botany” AtCSLD3 and GhCSLD3 genes enhance root growth and cell elongation in plants.
1 citations
,
October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
May 2025 in “Texas Digital Library (University of Texas)” Extracellular ATP promotes growth, while adenosine inhibits it in Arabidopsis plants.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
46 citations
,
June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
April 2018 in “Journal of Investigative Dermatology” The role of γδT-cells in causing alopecia areata remains unclear.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
2 citations
,
February 2025 in “Poultry Science” TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
6 citations
,
March 2020 in “Anais Brasileiros de Dermatologia” CTLA4 gene variants are not linked to alopecia areata in Monterrey's Mexican population.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
3 citations
,
August 2020 in “Cutaneous and Ocular Toxicology” ATP helps prevent skin damage from vandetanib by reducing stress.
14 citations
,
February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
11 citations
,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
13 citations
,
October 2016 in “Acta Biochimica et Biophysica Sinica” GhPLDα1 helps thicken cotton fiber walls by boosting cellulose production.
73 citations
,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.