9 citations,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
3 citations,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
57 citations,
July 2005 in “Genetics” Key genes are crucial for Drosophila wing development and could be insecticide targets.
50 citations,
June 1993 in “European journal of biochemistry” Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.
17 citations,
May 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
3 citations,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
688 citations,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
36 citations,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
22 citations,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
9 citations,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
8 citations,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
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,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
68 citations,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
July 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
18 citations,
March 2015 in “Journal of Endocrinological Investigation” The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.
14 citations,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
8 citations,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
1 citations,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
1308 citations,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
6 citations,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
5 citations,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.