48 citations
,
July 2008 in “Acta Biochimica et Biophysica Sinica” Wnt signaling is important for development and cell regulation but can cause diseases like cancer when not working properly.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
24 citations
,
February 2015 in “Experimental Cell Research” NFIC helps human dental stem cells grow and become tooth-like cells.
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.
556 citations
,
September 2008 in “Genes & Development” Wnt signaling is vital for cell growth, development, and cancer research.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
3 citations
,
December 2023 in “Aging” hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
February 2020 in “Definitions” KRT72 gene helps form hair.
27 citations
,
June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.
20 citations
,
January 2008 in “Journal of Korean Medical Science” NGAL may help maintain skin balance and is linked to skin disorders and cancers.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
3 citations
,
August 2024 in “Molecular Biology Reports” LncRNA018392 helps goat skin cells grow by increasing CSF1R.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
145 citations
,
May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
15 citations
,
January 1991 in “Mammalian Genome” 41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
61 citations
,
January 2008 in “Cold Spring Harbor Symposia on Quantitative Biology” Beta-catenin is crucial for skin cell growth, development, and cancer formation.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
22 citations
,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
3 citations
,
April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
1 citations
,
October 2024 in “Journal of Clinical Immunology” Vaccines work well in Netherton syndrome patients, similar to healthy people.
3 citations
,
May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.