58 citations
,
February 2013 in “Journal of Biological Chemistry” LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
October 2022 in “Frontiers in Genetics” The research found new potential mechanisms in mouse hair growth by studying RNA interactions.
November 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Melatonin may treat rosacea and Alzheimer's by reducing inflammation and affecting blood vessel growth.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
February 2026 in “Pediatric Dermatology”
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
April 2025 in “Journal of Diabetes & Metabolic Disorders” Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
1 citations
,
May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
7 citations
,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
1 citations
,
April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
20 citations
,
December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
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.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
March 2010 in “European Journal of Cancer Supplements”
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
26 citations
,
February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
9 citations
,
December 2002 in “Novartis Foundation Symposium” LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
4 citations
,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.