January 2019 in “Publisher” Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
70 citations
,
December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
April 2016 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Sox9 is important in the development of tumors in domestic animals.
26 citations
,
February 1998 in “DNA and Cell Biology” K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
44 citations
,
May 1997 in “Journal of Biological Chemistry” The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
2 citations
,
June 2022 in “International Journal of Molecular Sciences” Lower levels of certain genes in hair cells improve hair loss treatment outcomes.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
16 citations
,
March 2020 in “Animal Biotechnology” Transgenic sheep embryos with a specific promoter were successfully created, but more research is needed for gene expression in hair follicles.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
1 citations
,
December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
25 citations
,
May 1994 in “Journal of Investigative Dermatology” Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
November 2022 in “Scientific Reports” Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
16 citations
,
April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
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.
January 2011 in “Zhongguo nongye Kexue” Transgenic sheep cells with spider silk gene were successfully created for future sheep hair expression.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.