April 2016 in “Journal of Investigative Dermatology” Tumor cell adhesion is linked to higher risk of SLN metastasis and melanoma recurrence, and a model including these factors predicts these outcomes better than one with just clinical data.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
66 citations
,
December 2013 in “Nature Cell Biology” Inactive hair follicle stem cells help prevent skin cancer.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
1 citations
,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
10 citations
,
January 1985 in “Elsevier eBooks” Active oxygen species might be involved in skin tumor growth, but their exact role is unclear.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
96 citations
,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
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.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
2 citations
,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
54 citations
,
January 2016 in “Cell reports” Activating β-catenin in different skin stem cells causes various types of hair growth and skin tumors.
51 citations
,
March 2014 in “Nature Communications” Skin tumor regression is helped by retinoic acid signaling blocking Wnt signaling.
7 citations
,
May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
5 citations
,
August 2020 in “Curēus” The document concludes that recent studies help tell apart desmoplastic trichoepitheliomas from other skin tumors, but more research is needed for clear differentiation.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
April 2020 in “Journal of the Endocrine Society” A woman's severe hirsutism was caused by Leydig cell tumors in her ovaries, which improved after surgery.
July 2019 in “Acta Scientiae Veterinariae” Removing a testicular tumor in a dog reduced its aggressive behavior and skin problems.
Hair follicles can be used to quickly assess drug effects in cancer treatment.
18 citations
,
February 2023 in “PLoS ONE” A new triple drug system using nanoparticles effectively targets breast tumors in 3D models.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.